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_14500
|
A genetic alteration is present in BAG3 (BAG cochaperone 3) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Myofibrillar myopathy 6
|
GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
|
GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCAAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
|
Task1_train_14501
|
A variant affecting Chromosome 10, within the gene BAG3 (BAG cochaperone 3), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Primary dilated cardiomyopathy
|
GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
|
GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCAAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
|
Task1_train_14502
|
A change on Chromosome 10 affects gene BAG3 (BAG cochaperone 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Cardiovascular phenotype
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GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
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GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCAAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
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Task1_train_14503
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A genomic change on Chromosome 10 affects BAG3 (BAG cochaperone 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Dilated cardiomyopathy 1HH
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GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
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GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCAAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
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Task1_train_14504
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A variant was discovered in gene BAG3 (BAG cochaperone 3), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Myofibrillar myopathy 6
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GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
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GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCAAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTT
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Task1_train_14505
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This variant impacts the gene BAG3 (BAG cochaperone 3) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Dilated cardiomyopathy 1HH
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GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTTGCCACTGTTAGCCTGCTGAGGAAGGCTGAAGTCATTCCCATGGGA
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GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACTCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTTGCCACTGTTAGCCTGCTGAGGAAGGCTGAAGTCATTCCCATGGGA
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Task1_train_14506
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This sequence change occurs on Chromosome 10, altering BAG3 (BAG cochaperone 3). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Myofibrillar myopathy 6
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GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTTGCCACTGTTAGCCTGCTGAGGAAGGCTGAAGTCATTCCCATGGGA
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GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACTCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTTGCCACTGTTAGCCTGCTGAGGAAGGCTGAAGTCATTCCCATGGGA
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Task1_train_14507
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A genetic alteration is present in BAG3 (BAG cochaperone 3) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Myofibrillar myopathy 6
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GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTTGCCACTGTTAGCCTGCTGAGGAAGGCTGAAGTCATTCCCATGGGA
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GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCTAAGGTGAGAGGATCACTTGAGGCCAGAAGGTTGAGGCTGCATTGAGCTGTGATAGCCCCGCTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCCCCCACAAAAATCTATATATCTATATGGCTGTAGTTTATAGTCACAGGAAAACCTGTGCAGCCAGAGGTTAGCACAGAGGCGCTGTGTCATTGCTGAATGTTAGGCTACAGCACAGCTATCCTGAAGCAAAATTGTTCTGGAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTTGAGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAATGACATAATCGTGGCTCACTACAGCCTTGAATTCCTGGGCTCAAGCGATTCTTCCGCCTCAGCCTTCTGAGTAGCTGGGACTACGAGTGCAAGCTCCCACACCTGGCTAATTTTTAAAGATTTTTTGTAGGGTTGGGGTCTTACTATATTGCCCAGGTTAGCTATTTTCATTTTTGAAAATTTTATTGGGTTTCTTTTCATTGCCATTAAGAATACCATCTACAGAGAAATTCAGTGAGAGGTAATAGACAAATAGCCTGGGGTGATCAATGGAAGCCTGACTAATGATTGGGTTACATACATGATTAATACCATGTTTTTATTTTGTAACAGCCATTGATTGACTTTGAAAATCTTTTATACTATTAAACTTTTTTTAAAAAGCCATTTCTCAGTTTTCTTTCTAATCTGTACTAGCTACAAACAATTTCTGTGACTTTCAGTCAGTTATTAAAAATATATTTTTGTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAACCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAAGTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAGAAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCTTCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACTGCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCAGGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGACAACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAAGAGCTGCTGGCCCTGGATTCAGTGGACTCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGATGTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCACTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGAAATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCAAACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAGCCTCTGCCCTGTAAAAATCAGACTCGGAACCGATGTGTGCTTTAGGGAATTTTAAGTTGCATGCATTTCAGAGACTTTAAGTCAGTTGGTTTTTATTAGCTGCTTGGTATGCAGTAACTTGGGTGGAGGCAAAACACTAATAAAAGGGCTAAAAAGGAAAATGATGCTTTTCTTCTATATTCTTACTCTGTACAAATAAAGAAGTTGCTTGTTGTTTGAGAAGTTTAACCCCGTTGCTTGTTGTTCTGCAGCCCTGTCTACTTGGGCACCCCCACCACCTGTTAGCTGTGGTTGTGCACTGTCTTTTGTAGCTCTGGACTGGAGGGGTAGATGGGGAGTCAATTACCCATCACATAAATATGAAACATTTATCAGAAATGTTGCCATTTTAATGAGATGATTTTCTTCATCTCATAATTAAAATACCTGACTTTAGAGAGAGTAAAATGTGCCAGGAGCCATAGGAATATCTGTATGTTGGATGACTTTAATGCTACATTTTAAAAAAAGAAAATAAAGTAATAATATAACTCAAAATGGTTTTTGTGGTTTCTAAATCTTTGAAAGCAGTGGCATCATGGAGATTGTCTGTCCCTGGTTTCAGTCAGAATAAATGACAGGTGCATTTAACAAGCCTGCTTTGGGTTTTGTGACGTCTCCAATAGCCCGGCTCAAGAGAGAATTGTCTTGGTCACCTTTCAGTCTCAGATTGCAACAGGAACCTGGGAAGACTCAGGGCTGTGAACTCCGGTAATGGGAACATGCCTGCTGCATCCGTTCGGACCGACCCAGCCAACAGCCAAGGTGCCAGTTAGGTAGCATGTCTGCCCACCTGTCCTCAGGCCTCACCAAGAAGCTGAGATTGTCCAAAAGTGCCCAGAGGGCCTGGCGCAATGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAACAAATCAGCCAGGTGGTGGCATGCGTCTTCAGTCCCAAGCTACCAGGGATGCTGAGACGTGAAGATAGTTTAAGTCCAAGAGATGAGGCTGCCGTGAGCTGTGATCCCGCCACTGCACTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAGGAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGTGTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCTTGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACCAGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACGAGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGGCTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATGGAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTTAACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACTCTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTGTATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTGGTGTGCTTGCCACTGTTAGCCTGCTGAGGAAGGCTGAAGTCATTCCCATGGGA
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Task1_train_14508
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A mutation in WDR11 (WD repeat domain 11), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hypogonadotropic hypogonadism 14 with anosmia
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TCCTGCAAGTCAACAGTGAAAAAAAGCGGGAACCCTAGTGAGAAAATGAACAAAGTCTGTGAAGAGCTAATGAGAGGCAGAGAAACCTAAAAGGCCAACAAGCCATATAAAGGAATGTTCAAACTCATCAGTTTTCAGAGATGTTCAAACCATGATATGGATCTACCGTTTAGACTAACAAAAACTGGACAGCCATATAGTGTTAAGTACGGGTGGAACATAGGGTATGGGAATCCTTGTGCATTGCTGGTAGGAATGTAGACCAATGCAGCCATTCTGTAAAGCACGCTGGCAGCACTTGGGCAAACACAGACATCTTCTGTGTCCGCTGAGCTCTTGGTCGTAAATGAACTTTTGCAAGGATATTGACTGGTGTGTTTTGTCATGATGTGAGTTTGGAGACCATCTGTGTGTTTTTACTGAGAGAGGAGACAGATTAACAATTGGCTGATGCACCCATGGAGTATTACGTAGCATGCAGAAACAGGAGGAAGAGGACTTAAATACAGTGGAAAGAGTAAGAAACAGGATGAAGTATATATATATATATACACACACACACACACACACACACATATAAACACAATACTATTTAGGTAAATTAGATAATAACTACATGTTAAGAACTTATACATATGCGAGGATATTGGACTAAAAGGCTTTACAATAGGTGGAATATAAAAGAATATATAAATAAAACAAGTGATTTTGGAGGAATCTATGGATGATAAAGGACCCTGGTTCGAGAACTGTGATTGTCTTATCGTGTGCACATAAGAGATGGGGGAGGAGACGAGGAATAGGCAATACTATCATTGAATTCATTATTTTCATTTTGTAAGTATTTTATAAAAACATCAAAAGGTCAGACCTTTTGGAAGTTTGCCATAAAAGCTCCAATTAAAATGCATTCATTTAGCCTTTCTCTAAGTAGGTAAAATCTAAAGAACAAATGTGGATTCATGTGTAGTAATAATAAATGATACTGGGCAGTGGTGTGTGTGCCCAGCTCTTCTGGACGATTCTTTGACAGAAGGAAACCTAGCACTTCTAGGTTTGTCTGCATTTGCTTTACAGGAGTGGTCACCATCTCACAACTTGAAGAGCCTGAGAAAGAAGCAACTTGCAACTCGAGAGGCCATGGCCCGCCAGACCGTAGTCTCAGACACAGAGCTGAGTATTGTTGAATCATCTGTGATCAGGTACAGTACAGTGTTTCTTGACACTGTCATTTGTGCCATTAGCATCATGTCTGGGAAGTTGACAAGTATCATCGGAAGGTGTCTATGGTAGCAAGTTGGACTCTGCTTTTGAACATACTTAGTTTCATCTTTCAGTACATACCCAGATTACTAAAAAGATAATTTTATCATTTTTAGTATTGTACTATACTGTTTGTTATAACTAATAACATATGCAGTAATATTCACCCATCAGCATCTAGTAGTAAATGTGCTCATTCCGAGTGCCCTTCTACTCCATACACTTCAGCTTCTGAAATTCAAATGAACATAGCATAGACATACAGATAGATCATATTATCATTTATACACACCAAAGAAAATGTGTTGGGAATCCTAAATTTGTGTATCATCCCCATCCATACCAATCTTACAGATAAAAGGCTTCAGAGATAATGTTGGGTCACTGTACAGCCTCCCTTCTGTTGAGCACAGTTCTATAGCCAAAATCTCTATGAATTTTATTTTTCTTGTGTTAAGTTTAGATCACCATTTCTCTCTGTGCAGGGTAAACTTCCTCTGATGTTGTGGCTGTTAAGGAGTGATTCATGTTTACCCATAATTAGCTGGGCAAATATTAGTTTCAGACTTTTAAAAAAATAGTTTTGGACCTCCTCTTAATGCGTCTGTACTTTGGGCAAGTTAATTAATTATGAGTATCACTCTAGGGGAAAAAAAAACATCTTTATCATATGTTTCACTATCCCAAAGCTTGCTGCAGGAGGCAGAAAGTAAATCTGAACTTAGTCAGAACATCTCTGCCCGGGAACATTTTGTATTTACCGATATTGATGGCCAAGTGTATCATCTCACTGTTGAAGGAAACTCAGTAAAAGACAGTGCTCGGATTCCACCAGATGTGAGTACAACCTTGATTAAATCTTCATCAAGAAGATTTTGTTTTGTTGGTTCCATATCCAGTGAAGGCATAGTTAAGTTGGAAACTTCAGAAAAGCCTAATGTAAATAAACTTTATTTAAGGAGATATTATCGATTAAACTTGTTCCATACTGCTAGAGAATAACGCTGTAACTATTTTGATTAAATGTTTACTGTGTGCTACTCATTTTTATCCCTGTAATAATCCATGAGGAGTTATCTCCATTTTACCCATAACAAAACTGTGGGAGAATAAGTAACTTTCCCAAAGTTATCCAGCTTACTCATATGGCAGAGCAGTGTTTTAAACTCAGGCCTGTCTGACTTCAGTATCTGTCTTCTTTCCATTTCAGGCATTACCCTGAAGGATTTGACTTACAATCTAGTATTATTTTTGGATAATAGTAATCAGGTTGTAAGTGTAATAGTATTATTAACATTTACTAACTTACATATATTCTTATGGCCTTGTGGAATCTGTAACTAAAGTTTTGCCATTAATCATTTGTGTCAGCATGCATCTCATAGATAGTTTTTAATAGATGGATCATGAAAATGTTTATGTTAATTAATGCAGGCTATTATAATGGTTAAATGAAGGCATGAGGGGATTTTTTAAAATAGGTATATTTATTTTAAATTGCTATCTAAAAATGGAATGCTCTAGTAGAATGCCAACCCCCATAATTTTATAGGTGGCTTTGGGGTCTCATAAAGTTACAATCTAGATGTTGGCTGTGGCTACAGTCTTTTGAAGTGTAATGGGACAGAAGGATCTATTTCCAAGTTGGCTGCCTCACAGGCTATTGCACATTAATGCTGGCTGTTGACGAGGGACCTTAGTTCTTCATGTCGATCTTTCCATAAGGCTGCTTGAGTGTCCTCACGACATGACAACTGGCCTCCCCTAGAGTAAGTGATCTGATAAAGCAAGAAGGAAGTTGCAGAGTCTATTATGACCTGGTTTCAGAAGTCTCTTCAAAGGCAACTTCTTAATTAAACATTCTATTTTATGGCTAGGAAAGTAGATATCTTAAAATGTTGCTTCATATTATATACAGAATTTCATTTCTTTAATATTTTTTTTTATTAATGGACTTTATTATAATATTGATTTTTAAATCCAGTTTTTGTTTTGTTTCTTGACTATTACCAGAGTTTTTACGGTATTCAGTGTGTGTGCTAGTCCACTAATGGTCAATTATTCAAACCACTAGAGTTTTCTTACTTTTTACCATGGATACCATTTGAATTTTTATGTTGTACAATAAATGCAAAAATAAAATTTCTTTTAATAAATAGAGAAGTAATTGAGCAGTAATATTATTTAATAGCTAACATGTATTGACTATTTACTGCATGGCAGGCATTGCTTTAAGGCCTTTGCCTTTATAAATTTATTAATACTAGCAACAACTCAAGTTTCATGAACTTACCCTACTTTATGGACAATAAATCCAAGACAGAAAGGTTAAGTAAACATGCCTCAAATCACATACCAGTTTCAAGCTGGGATTCAAGCCCAGGCAGTGTGACTGCAGAGCCCAGGCTGCTGAGCCCTCCATGATACCACCTCTGAGCATCTATTAGAACTGCAAGTTCCTTTCTTCCTCCAAGTTAGATTGACTACAGCAGCATTTCATTCTTATGTTGTGCTTCTATATGTAACTTCTGAGCAAAGCTTTCTGTGAATTTAAACTGCATATGCCTTTAGTAAACAGCATCTCTTCACCTTCATGATTCCACAATGTTCCAAAACGTGTCAGTGAAGCTCTGGATCCTTTTTTCAATAGAAAAATCACGGCACAATTAGTTATAAAAGAGCTTTAAGTTTCCCTTGGAATGGATTTAGTTATCCTTTTGCAGTGAGAGATAAGTTTGAGTTGGCTCTCTGGAAAACCTTCCCTTTACTTCTCTGTTTTTCTTACTTTAATTTCCCCCTTTTTTTTTTGAGGTATTTGTTCCTCAAAAGACAT
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TCCTGCAAGTCAACAGTGAAAAAAAGCGGGAACCCTAGTGAGAAAATGAACAAAGTCTGTGAAGAGCTAATGAGAGGCAGAGAAACCTAAAAGGCCAACAAGCCATATAAAGGAATGTTCAAACTCATCAGTTTTCAGAGATGTTCAAACCATGATATGGATCTACCGTTTAGACTAACAAAAACTGGACAGCCATATAGTGTTAAGTACGGGTGGAACATAGGGTATGGGAATCCTTGTGCATTGCTGGTAGGAATGTAGACCAATGCAGCCATTCTGTAAAGCACGCTGGCAGCACTTGGGCAAACACAGACATCTTCTGTGTCCGCTGAGCTCTTGGTCGTAAATGAACTTTTGCAAGGATATTGACTGGTGTGTTTTGTCATGATGTGAGTTTGGAGACCATCTGTGTGTTTTTACTGAGAGAGGAGACAGATTAACAATTGGCTGATGCACCCATGGAGTATTACGTAGCATGCAGAAACAGGAGGAAGAGGACTTAAATACAGTGGAAAGAGTAAGAAACAGGATGAAGTATATATATATATATACACACACACACACACACACACACATATAAACACAATACTATTTAGGTAAATTAGATAATAACTACATGTTAAGAACTTATACATATGCGAGGATATTGGACTAAAAGGCTTTACAATAGGTGGAATATAAAAGAATATATAAATAAAACAAGTGATTTTGGAGGAATCTATGGATGATAAAGGACCCTGGTTCGAGAACTGTGATTGTCTTATCGTGTGCACATAAGAGATGGGGGAGGAGACGAGGAATAGGCAATACTATCATTGAATTCATTATTTTCATTTTGTAAGTATTTTATAAAAACATCAAAAGGTCAGACCTTTTGGAAGTTTGCCATAAAAGCTCCAATTAAAATGCATTCATTTAGCCTTTCTCTAAGTAGGTAAAATCTAAAGAACAAATGTGGATTCATGTGTAGTAATAATAAATGATACTGGGCAGTGGTGTGTGTGCCCAGCTCTTCTGGACGATTCTTTGACAGAAGGAAACCTAGCACTTCTAGGTTTGTCTGCATTTGCTTTACAGGAGTGGTCACCATCTCACAACTTGAAGAGCCTGAGAAAGAAGCAACTTGCAACTCGAGAGGCCATGGCCCGCCAGACCGTAGTCTCAGACACAGAGCTGAGTATTGTTGAATCATCTGTGATCAGGTACAGTACAGTGTTTCTTGACACTGTCATTTGTGCCATTAGCATCATGTCTGGGAAGTTGACAAGTATCATCGGAAGGTGTCTATGGTAGCAAGTTGGACTCTGCTTTTGAACATACTTAGTTTCATCTTTCAGTACATACCCAGATTACTAAAAAGATAATTTTATCATTTTTAGTATTGTACTATACTGTTTGTTATAACTAATAACATATGCAGTAATATTCACCCATCAGCATCTAGTAGTAAATGTGCTCATTCCGAGTGCCCTTCTACTCCATACACTTCAGCTTCTGAAATTCAAATGAACATAGCATAGACATACAGATAGATCATATTATCATTTATACACACCAAAGAAAATGTGTTGGGAATCCTAAATTTGTGTATCATCCCCATCCATACCAATCTTACAGATAAAAGGCTTCAGAGATAATGTTGGGTCACTGTACAGCCTCCCTTCTGTTGAGCACAGTTCTATAGCCAAAATCTCTATGAATTTTATTTTTCTTGTGTTAAGTTTAGATCACCATTTCTCTCTGTGCAGGGTAAACTTCCTCTGATGTTGTGGCTGTTAAGGAGTGATTCATGTTTACCCATAATTAGCTGGGCAAATATTAGTTTCAGACTTTTAAAAAAATAGTTTTGGACCTCCTCTTAATGCGTCTGTACTTTGGGCAAGTTAATTAATTATGAGTATCACTCTAGGGGAAAAAAAAACATCTTTATCATATGTTTCACTATCCCAAAGCTTGCTGCAGGAGGCAGAAAGTAAATCTGAACTTAGTCAGAACATCTCTGCCCGGGAACATTTTGTATTTACCGATATTGATGGCCAAGTGTATCAACTCACTGTTGAAGGAAACTCAGTAAAAGACAGTGCTCGGATTCCACCAGATGTGAGTACAACCTTGATTAAATCTTCATCAAGAAGATTTTGTTTTGTTGGTTCCATATCCAGTGAAGGCATAGTTAAGTTGGAAACTTCAGAAAAGCCTAATGTAAATAAACTTTATTTAAGGAGATATTATCGATTAAACTTGTTCCATACTGCTAGAGAATAACGCTGTAACTATTTTGATTAAATGTTTACTGTGTGCTACTCATTTTTATCCCTGTAATAATCCATGAGGAGTTATCTCCATTTTACCCATAACAAAACTGTGGGAGAATAAGTAACTTTCCCAAAGTTATCCAGCTTACTCATATGGCAGAGCAGTGTTTTAAACTCAGGCCTGTCTGACTTCAGTATCTGTCTTCTTTCCATTTCAGGCATTACCCTGAAGGATTTGACTTACAATCTAGTATTATTTTTGGATAATAGTAATCAGGTTGTAAGTGTAATAGTATTATTAACATTTACTAACTTACATATATTCTTATGGCCTTGTGGAATCTGTAACTAAAGTTTTGCCATTAATCATTTGTGTCAGCATGCATCTCATAGATAGTTTTTAATAGATGGATCATGAAAATGTTTATGTTAATTAATGCAGGCTATTATAATGGTTAAATGAAGGCATGAGGGGATTTTTTAAAATAGGTATATTTATTTTAAATTGCTATCTAAAAATGGAATGCTCTAGTAGAATGCCAACCCCCATAATTTTATAGGTGGCTTTGGGGTCTCATAAAGTTACAATCTAGATGTTGGCTGTGGCTACAGTCTTTTGAAGTGTAATGGGACAGAAGGATCTATTTCCAAGTTGGCTGCCTCACAGGCTATTGCACATTAATGCTGGCTGTTGACGAGGGACCTTAGTTCTTCATGTCGATCTTTCCATAAGGCTGCTTGAGTGTCCTCACGACATGACAACTGGCCTCCCCTAGAGTAAGTGATCTGATAAAGCAAGAAGGAAGTTGCAGAGTCTATTATGACCTGGTTTCAGAAGTCTCTTCAAAGGCAACTTCTTAATTAAACATTCTATTTTATGGCTAGGAAAGTAGATATCTTAAAATGTTGCTTCATATTATATACAGAATTTCATTTCTTTAATATTTTTTTTTATTAATGGACTTTATTATAATATTGATTTTTAAATCCAGTTTTTGTTTTGTTTCTTGACTATTACCAGAGTTTTTACGGTATTCAGTGTGTGTGCTAGTCCACTAATGGTCAATTATTCAAACCACTAGAGTTTTCTTACTTTTTACCATGGATACCATTTGAATTTTTATGTTGTACAATAAATGCAAAAATAAAATTTCTTTTAATAAATAGAGAAGTAATTGAGCAGTAATATTATTTAATAGCTAACATGTATTGACTATTTACTGCATGGCAGGCATTGCTTTAAGGCCTTTGCCTTTATAAATTTATTAATACTAGCAACAACTCAAGTTTCATGAACTTACCCTACTTTATGGACAATAAATCCAAGACAGAAAGGTTAAGTAAACATGCCTCAAATCACATACCAGTTTCAAGCTGGGATTCAAGCCCAGGCAGTGTGACTGCAGAGCCCAGGCTGCTGAGCCCTCCATGATACCACCTCTGAGCATCTATTAGAACTGCAAGTTCCTTTCTTCCTCCAAGTTAGATTGACTACAGCAGCATTTCATTCTTATGTTGTGCTTCTATATGTAACTTCTGAGCAAAGCTTTCTGTGAATTTAAACTGCATATGCCTTTAGTAAACAGCATCTCTTCACCTTCATGATTCCACAATGTTCCAAAACGTGTCAGTGAAGCTCTGGATCCTTTTTTCAATAGAAAAATCACGGCACAATTAGTTATAAAAGAGCTTTAAGTTTCCCTTGGAATGGATTTAGTTATCCTTTTGCAGTGAGAGATAAGTTTGAGTTGGCTCTCTGGAAAACCTTCCCTTTACTTCTCTGTTTTTCTTACTTTAATTTCCCCCTTTTTTTTTTGAGGTATTTGTTCCTCAAAAGACAT
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Task1_train_14509
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Here is a mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; FGFR2-related craniosynostosis
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CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACT
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CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTATTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACT
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Task1_train_14510
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Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; FGFR2-related disorder
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CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACT
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CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTGTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACT
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Task1_train_14511
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This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; FGFR2-related craniosynostosis
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CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACT
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CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTGTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACT
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Task1_train_14512
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A variant was discovered in gene FGFR2 (fibroblast growth factor receptor 2), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Levy-Hollister syndrome
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TCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACTGATTCTAAACACTGAAATATTAAATACTTGCTGCA
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TCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGTGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACTGATTCTAAACACTGAAATATTAAATACTTGCTGCA
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Task1_train_14513
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Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; FGFR2-related craniosynostosis
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TCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACTGATTCTAAACACTGAAATATTAAATACTTGCTGCA
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TCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGTGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACTGATTCTAAACACTGAAATATTAAATACTTGCTGCA
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Task1_train_14514
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The following genetic variant occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not provided
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CACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGCTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACTGATTCTAAACACTGAAATATTAAATACTTGCTGCAGAACAGCTAATTTATTGTCTTGACACTAACTCTTGGGTCTCAGAAAGATCTAGCTATTAC
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CACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTTGAGAGGACCAACTATGGTAGCACAGAATTAATGCCTACCCAGAACTCCTCCTGCTCATACAAATAAAAAATAGTTCAAGTGATTTTTTTTTCCCCAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGTGGAGATTACAGACACGCATAACTACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGCCCTCCCAAAGTGCTGGGATTGATTACAGGTATGAGTCACTGCACACAGCCTTCAACTGAATTTTCAAATCTAAAATATCAGTTGGAGCCTGACCCCACTGGTTTTGTCAGTATATCATAATAGAAATATTCTACTGTGTTTCTAGAATGCTATCAAGGATGCCAAAGCAAGATCAGACCTTTTTGTTGAGGGATAAACATAGAGAGTAGACCCTGTGGAGGTCCCCAGCCTGGACCACATCTCACTCAGCTCCACTCTTTAAGGACAAATCTGGGTTAGAGGGAAATATGACAAACTACTCGTAAGTGGGAAAAGCTCCAGGATTACTCCTTTAATGGAGTGAAGAACATGCCAAGAGCTTGGCGAATTAGATAACCGCTTTGTAGTTGCACATCCATGAATATGTTCAAGGGAAGGACTTCCGCTCTGGCAGGGGGAGGTCAGCAGTTCCACCTTCTGTGCTCTTTGAAGCCAGGCAGATTAGTAACAGAGCATTGGTTATCAGCCTACCATAAAATCTGTCCTTTCTAAGGCCAGCTCCTGCACCTTCTACGAATGTGTGAAATGCAGCAGCCACTAAAGAAGGAAGAAAGGTGAAGTACGTACAGTATTTTTGCAGCTCAAGCCCAGGAAAAAGCCAGAGAAAAGAGAGTTACTCACACATCACTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTTGACTGGAAGCCGCCCCTGCAAATGTAGAGGAAAATGCAAAAACTAAATATATTTAAAAGAATTTATCTTAGCAGGCTCAATAGGGCTATGCCCTGTTTAAGAGCTGATATTCTCGGTTTTTACTAGTCAGTCAATAGAGCAGAAATCAGTCCCAATGAGGACCATGAACAATGTGTGAGATGCACAGGTCTGGGCCGTTAATAAAATGCCATCTCCTTGGATTCTATCCTTTATCTCCCTAGCACACAGATGCTCCTTGACCAGTTATTAGGCAAAAATTAAACCAGTAACTTCCAAGCTGTAGTTTTTGCTATGAAAGTTCTTGATGAGAACCATAAGAAAATCCTAGCGGTTGCTGATTATTCTGTATATAAGTGTTTCACATTTACTAAAATTGACATAATAGAGGCTAAATTTGCATATTGAGAGTTTGTGAATAGTAAGTCAAAAGAACGGGAATCGGGGCAGGGGAATGGGTCCCCAGCCATCCCACCCAGCTCTCAACATTGACGGCCTTTCTTCCTGGAACATTCTGAGCCTCACCCCCGCCCCTGCCCACTGTGTTACTGCCATCGACTTACATTGGTGGTCTTTTTGTAATAGTCTATATTGTTGATATCTCTGGCGAGTCCAAAGTCTGCTATTTTCATCACATTGTTTTCTGTTACCAAAACATTTCTGGCTGTTAAATCTCGATGAATACACTGAAATCAAGAAAGAAGCAAGAGAAATAACTAATTTCAAAACACCGCCAGAACAAAAAGGAAATATGTTCATTTCTTAAAATGCAGATAGAAAATATAGCTGATGTTAAAAACCAGTTGCGGTATACTATAAGAAATACAGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATACCAGCACTTTGGGAGGTCAAGGTGGGCGGATCACTTGAGGTCAGTAGTTCGAGACCAGCCTGGCCAACACGGCAAAATCCCATCTCTGCTAAAACTACAAAAATTAGCCGAGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAACGCAGTGTGGCTCTAAGATTAAGAAGACAGGTCAACTGGGATCATCGGAGAGCCTGGATCACGACATGTATTTGTTTTGGAATTATAAATAAATAGAATGATCATTTTGAAGAGCGAAGGTAGACTAAATAACCATATTCTCTTCTACCTCCAGTTGTCCAGCCACACCAGTGTCTTTCTTTCAGCTGCTTATAGATCTGTATCTGATCATCCTAAAATCTTTTCTCTCAACACTTGCTCTCCTGCCCTTTAAACCTGAATTTTCAGAAGCGTTGGTTAAAATCCAACATTGTGTCTTCTTCATTCCTGGTCACTTCTCAAACATTCTAATCTGTGTTCCACTCTTGCCTCTCCTGAAGCTTATGAAGAACCTCTGAATTGTTAGACGCAAATGACGTCCTCCAACTCCTCAGTTGTTCCTCCTCTGTGGCTTCAGATGCTATTGATTTCTTGCTTGTTTTTTAAAATGGTCCCTCTGTTTAGGTTTTCTTGTTTTTGTTTTTTTTGTTTTAACATGGAGTCTTGTCCTTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTACAGGTGCCTGCCACCACACCCGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCATCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTAAGCCACCACACCCAGCCCCTCTGTTTAGTTTTATCCCGTCCCCTTCCCTCAGCTGCCTCTCTGTCTCTCCCTGCCCTCTTAGAATCTCTGGCTGGCTCTTCTCTTTTTCTGTCCCTTCAAATAGAGGAATTGTTCCATTAAGTTTATGTATTTCCATATATCCTCAAGGCATTAATTCTAAACACATACAAAATATGCGCAAGTTCGTATCTCCATCATGACCTCCCTCCTGAGACCCATGTTCTCATTTTCAACTGTCTATGGGACACTTCCCCACTGACATTCCCTTGACGTCTCAAATTCAAGGTTTCAACTCCTCCAATGCTTTGTCTCTCTTAATCGGAGAGCTATACACCGGTATTCTTTACACATTCCTCCCAAGTCCTGTTGATTTCAACTCCAAAATGCCTTCCCATGTGTCCACACCATGCCTTTCCCACTGCTAATGCCTTAGTCCAGGCCATCTTCACTGTCTGCCCCTCCCCCTGAGACTTCCACACTGCCCGTCTAGCGGGTCTCTACGCTTCCAAACTTAGCCCTGTTGTACCTCCTCCATGTCCCATGACTAAGGTTCCTGAAATGACTAGTCATGTCCTTTCTTGGTCTCTACCATGGCCAATGCCCGTCTATCCACGTTCTCAGTCCAGTTTCTCCTAACACCTGGCCTCAGCCTGAATGTGCCACATACACTGATTCTAAACACTGAAATATTAAATACTTGCTGCAGAACAGCTAATTTATTGTCTTGACACTAACTCTTGGGTCTCAGAAAGATCTAGCTATTAC
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Task1_train_14515
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A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, 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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TTCTTTAAAGACATTTTTAGTTGGATTCCACCCAGCCAAGTAGAATGTGAAAGACTCACTTTTTGGGAAGCCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTGCCTCATATCTGTAATCCCAGCCCTTACAGAGGCCGAGGCAGGTGGATCACATGAGGCCAGGAGTTCAAGACCAGCCTGGCCAGCATAGCGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACACACCTATAGTCCCAGCTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGTAGTGAGCCGAGATCACACCACTGCACTGCAGCCTAGGCAACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAGAAAAAGTTTTAACATACAGAAAAGCACACATAAAAATATGATTATAATCTCTCCAAAATGATAAATAAGCCCTTGGTCATGATAGCCTCAAAAGGCACAGAGACACAGTTGACGTGCTCTTCCCTGTCACTCTCATGCTGTCACCTGCGCCCTCTTGGAAAGCAATGGATCCCTCCACTCTATCCTTTTGGTTCATTTTAACTATTCAATAAGTAATATATTATTTTTAATCACATAAATGAATAATAAAGCTCTTAGATCTTTGCAACATTTTTTACCCATACATTATCCTTTTGGAACCTGTTGGGCTTATAAAAACAAAACCAGATCATTCCTTTTCACAGCTGCATATACTGTATCGTATAAACACACCACACTTTATTTATCCATTCCCTTATATGCATAGGCATTTGCTTCCAGGTTTCAGCCATAACAAACAGTAGGCAATGAACATCTCTGTACATGTTCCCTTACACACGTGTGCAATAATTTCTCCATGGTATAGGCTCGGGGTTGGCAGACTACAGCCTGCAAGCCAAATCCTGCCTACCGCCTGTTTGGGTAATTAAATTTTATTGGCATGCAGCCAGGTCCATTCATTTCTGTACTTCTAGCACTGCTTTCTCACTACTATGGCAGACACGAGAAGTTGCGACAAAGACCATACGGCCCACAAAAGTCTAAAATATCTACGACCTCCCTTTACAGAAAAAGTTCACCAATTACTATATAGACCTACAAGAGAAATTGCTAAGTCAAAGATAGGCGTTTTCAAGTTTACTAATTACTTAGCAAATTGATTTCAAAGTGCCAGTAAACATTCAATGGAAGAAGCCAGGGTCTCTCTCCCCCAGGGAAAATAACGTATTCCTTCATACCGCTTTCTCCTCTTTTAAGCTATTCTTGGGAGCTCAGCCATCTGTGACCCACAGCAAGATGTGGATTCTTCAATCCCTGTTTTAAGGGAAGAACTTCTCAACCAAAACATAGGATCTTATTCTGACAAATCTCTCTTAGCACTTACAAAACAAAAACATAAGGAGGCTGCCTTTTCCAAAACCCCCTCCAGGTTATGACCTAGAAACAGCAGCGCCCTCTAGGCCCTCAAATCCAAAGTCACCTGCACCCTCCTTTCCACTGGCCCCCAGGTACGGGCACAGACCCTTCTTTGTGTTCATGGCTAGGAACATCTTCCAATGGGGATTTTAAAAAGAACTTTAAACATGCACACAGGGTGCTCTGGGAGCAGGATCTGGAAGCCCAGCCATTTCTAAAATGATTCAATCAAACTGCAGAGTATTTGGGCGAATGCAGTTTTTCCTCCTACTCACCATCCTGTGTGCAGGCTCCAAGAAGATTTATGATATTCTTGTGTTTCCCAATCATCTTCATCATCTCCATCTCTGACACCAGATCAGAAAGGTCTTTCTCTGTGGCATCATCTATGAACAGTAGGCATATTCACAAATCAGTTCATTTCCTCTAACTCATGGGCAGCTACTGTTAGTTGCCAAAGACTTAGTTGAAACAGCATGAAATTGAATTTCAGAATCAGAAAAGATTTTCCAAATCATCTCCCTCATTTTATCGAGGAAGGGACAAAGGCCTACACAGGGAACTGCCTCACTCTGTGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCTGAGCAGGTAAAGGGCTGCGACTTCTAGTGGCTTCTCAGAGGGCACTGCAGTTCCCATCCTAAGAAAAGTTACATAAACTTCCGCTCTGTAATTTCAAGCAAGAATGGCACAGGTTCCACATACGCGGGCTCGCAGTTAGCTTCTCTTAGATTCTCCTAAGTGGCAAGACTTTCCCATGTGCCCTCCACCTCAAGCTAATTCAGTATGGAAAAATCTGGGTTTCCTTTAAAAAAAAAATGAAATATGGGCATGGATAAGAACCATGTTGCAAACAGTTTTTTAGCTTCACAAAAGGAAGATCAATACAAGTGACTGTGTGTGCAAAATTTACACTGATGTATGTGAAGGAGGGAGCCACGGGCCATGAGGAGGGAGGGAGACACAGCCGTGGGCTGTAAGAAAGGACACGCCACAATGGCTTGGGGACTAATATCCTTCTGTGTCCTTACAGGGAAGGCTGCCAGCCTGGGCATCACAAGAGAAAGAGAACTCCCAGACCTCCCTTTTTGCAATATCCCATGTAACTCTGAGCTCCATTAGCAAAACCAGAAGTTCCGCCAAAAGAGATGAGAAGCCTGGGTCCTCCCCACACCTGGCCCTGGTACGCAGCCAGGGGCTGCCTCAGTCAGTGGTGCCATGACACCTGGGGCAAGACAGCACAGTGTTCCTCCCCGGCATCAGGCTCCAAGGTGGGGAACATCTCAAAGCACTCTAGTTTTCCTTGGGAGTCACTCAGATAAACAGCCTTTTAAAAAACCCAAAAAACAAAATGCACATCTTGTTGACAAAGTCCAGCCTGCTACTTCCCCTTGGGAGGGATGTGATGACTATCCCATGAGAACCCACAAAAGAAAGACAAAGCCTAACTCCAGAGCGCCTGCGACATGCCCAGCACCATATCCCAAGGATGGGCCTCTCTGCCTGGAAACGTGGGAAACACTCGGCATGGGATCTTCTTTCCGAGATCCCTACAAGAGGATTTATAATGTGACAGTTCCCTATAACTCTTCTCATAAAAGAATACTGCAGGACGAATAAGTTAATGGTTAAAAGTTCTTTAAGTTCTTTGGACATGGGCATGAAGCAGGGTTGGAAGGTTAACGTAGAAGTGTTCACAGTCCCACAAACACAACACGACATTTACATCTCAGGGTAATTGTTTATGTGTCCCAGGAGGCTCTGCACCAGCCCTGATCCTGTTCACTCCTTCTCAGCTTCTAAGTGACTCTCCCAGACCAGTGTCATTTCTGCTTTGTTCCTCACGCAAAAGAGAAGGCTTTCTGCTCCCTTACGTCTCTTCGTTCCCTCCAAAAACACAAATTTTCTTGTACTTGTAAAGTTAAGGTTTAAGTCCCAAATCTAACACACCAACTCCTAGCTAATAAATTCAATTATATGTGAGTTGATAATTTCTAAGCACATAAAAATACAGAGAGAATGAAGAATTGTGGTCA
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TTCTTTAAAGACATTTTTAGTTGGATTCCACCCAGCCAAGTAGAATGTGAAAGACTCACTTTTTGGGAAGCCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTGCCTCATATCTGTAATCCCAGCCCTTACAGAGGCCGAGGCAGGTGGATCACATGAGGCCAGGAGTTCAAGACCAGCCTGGCCAGCATAGCGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACACACCTATAGTCCCAGCTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGTAGTGAGCCGAGATCACACCACTGCACTGCAGCCTAGGCAACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAGAAAAAGTTTTAACATACAGAAAAGCACACATAAAAATATGATTATAATCTCTCCAAAATGATAAATAAGCCCTTGGTCATGATAGCCTCAAAAGGCACAGAGACACAGTTGACGTGCTCTTCCCTGTCACTCTCATGCTGTCACCTGCGCCCTCTTGGAAAGCAATGGATCCCTCCACTCTATCCTTTTGGTTCATTTTAACTATTCAATAAGTAATATATTATTTTTAATCACATAAATGAATAATAAAGCTCTTAGATCTTTGCAACATTTTTTACCCATACATTATCCTTTTGGAACCTGTTGGGCTTATAAAAACAAAACCAGATCATTCCTTTTCACAGCTGCATATACTGTATCGTATAAACACACCACACTTTATTTATCCATTCCCTTATATGCATAGGCATTTGCTTCCAGGTTTCAGCCATAACAAACAGTAGGCAATGAACATCTCTGTACATGTTCCCTTACACACGTGTGCAATAATTTCTCCATGGTATAGGCTCGGGGTTGGCAGACTACAGCCTGCAAGCCAAATCCTGCCTACCGCCTGTTTGGGTAATTAAATTTTATTGGCATGCAGCCAGGTCCATTCATTTCTGTACTTCTAGCACTGCTTTCTCACTACTATGGCAGACACGAGAAGTTGCGACAAAGACCATACGGCCCACAAAAGTCTAAAATATCTACGACCTCCCTTTACAGAAAAAGTTCACCAATTACTATATAGACCTACAAGAGAAATTGCTAAGTCAAAGATAGGCGTTTTCAAGTTTACTAATTACTTAGCAAATTGATTTCAAAGTGCCAGTAAACATTCAATGGAAGAAGCCAGGGTCTCTCTCCCCCAGGGAAAATAACGTATTCCTTCATACCGCTTTCTCCTCTTTTAAGCTATTCTTGGGAGCTCAGCCATCTGTGACCCACAGCAAGATGTGGATTCTTCAATCCCTGTTTTAAGGGAAGAACTTCTCAACCAAAACATAGGATCTTATTCTGACAAATCTCTCTTAGCACTTACAAAACAAAAACATAAGGAGGCTGCCTTTTCCAAAACCCCCTCCAGGTTATGACCTAGAAACAGCAGCGCCCTCTAGGCCCTCAAATCCAAAGTCACCTGCACCCTCCTTTCCACTGGCCCCCAGGTACGGGCACAGACCCTTCTTTGTGTTCATGGCTAGGAACATCTTCCAATGGGGATTTTAAAAAGAACTTTAAACATGCACACAGGGTGCTCTGGGAGCAGGATCTGGAAGCCCAGCCATTTCTAAAATGATTCAATCAAACTGCAGAGTATTTGGGCGAATGCAGTTTTTCCTCCTACTCACCATCCTGTGTGCAGGCTCCAAGAAGAGTTATGATATTCTTGTGTTTCCCAATCATCTTCATCATCTCCATCTCTGACACCAGATCAGAAAGGTCTTTCTCTGTGGCATCATCTATGAACAGTAGGCATATTCACAAATCAGTTCATTTCCTCTAACTCATGGGCAGCTACTGTTAGTTGCCAAAGACTTAGTTGAAACAGCATGAAATTGAATTTCAGAATCAGAAAAGATTTTCCAAATCATCTCCCTCATTTTATCGAGGAAGGGACAAAGGCCTACACAGGGAACTGCCTCACTCTGTGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCTGAGCAGGTAAAGGGCTGCGACTTCTAGTGGCTTCTCAGAGGGCACTGCAGTTCCCATCCTAAGAAAAGTTACATAAACTTCCGCTCTGTAATTTCAAGCAAGAATGGCACAGGTTCCACATACGCGGGCTCGCAGTTAGCTTCTCTTAGATTCTCCTAAGTGGCAAGACTTTCCCATGTGCCCTCCACCTCAAGCTAATTCAGTATGGAAAAATCTGGGTTTCCTTTAAAAAAAAAATGAAATATGGGCATGGATAAGAACCATGTTGCAAACAGTTTTTTAGCTTCACAAAAGGAAGATCAATACAAGTGACTGTGTGTGCAAAATTTACACTGATGTATGTGAAGGAGGGAGCCACGGGCCATGAGGAGGGAGGGAGACACAGCCGTGGGCTGTAAGAAAGGACACGCCACAATGGCTTGGGGACTAATATCCTTCTGTGTCCTTACAGGGAAGGCTGCCAGCCTGGGCATCACAAGAGAAAGAGAACTCCCAGACCTCCCTTTTTGCAATATCCCATGTAACTCTGAGCTCCATTAGCAAAACCAGAAGTTCCGCCAAAAGAGATGAGAAGCCTGGGTCCTCCCCACACCTGGCCCTGGTACGCAGCCAGGGGCTGCCTCAGTCAGTGGTGCCATGACACCTGGGGCAAGACAGCACAGTGTTCCTCCCCGGCATCAGGCTCCAAGGTGGGGAACATCTCAAAGCACTCTAGTTTTCCTTGGGAGTCACTCAGATAAACAGCCTTTTAAAAAACCCAAAAAACAAAATGCACATCTTGTTGACAAAGTCCAGCCTGCTACTTCCCCTTGGGAGGGATGTGATGACTATCCCATGAGAACCCACAAAAGAAAGACAAAGCCTAACTCCAGAGCGCCTGCGACATGCCCAGCACCATATCCCAAGGATGGGCCTCTCTGCCTGGAAACGTGGGAAACACTCGGCATGGGATCTTCTTTCCGAGATCCCTACAAGAGGATTTATAATGTGACAGTTCCCTATAACTCTTCTCATAAAAGAATACTGCAGGACGAATAAGTTAATGGTTAAAAGTTCTTTAAGTTCTTTGGACATGGGCATGAAGCAGGGTTGGAAGGTTAACGTAGAAGTGTTCACAGTCCCACAAACACAACACGACATTTACATCTCAGGGTAATTGTTTATGTGTCCCAGGAGGCTCTGCACCAGCCCTGATCCTGTTCACTCCTTCTCAGCTTCTAAGTGACTCTCCCAGACCAGTGTCATTTCTGCTTTGTTCCTCACGCAAAAGAGAAGGCTTTCTGCTCCCTTACGTCTCTTCGTTCCCTCCAAAAACACAAATTTTCTTGTACTTGTAAAGTTAAGGTTTAAGTCCCAAATCTAACACACCAACTCCTAGCTAATAAATTCAATTATATGTGAGTTGATAATTTCTAAGCACATAAAAATACAGAGAGAATGAAGAATTGTGGTCA
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Task1_train_14516
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This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; FGFR2-related craniosynostosis
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CCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTGCCTCATATCTGTAATCCCAGCCCTTACAGAGGCCGAGGCAGGTGGATCACATGAGGCCAGGAGTTCAAGACCAGCCTGGCCAGCATAGCGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACACACCTATAGTCCCAGCTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGTAGTGAGCCGAGATCACACCACTGCACTGCAGCCTAGGCAACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAGAAAAAGTTTTAACATACAGAAAAGCACACATAAAAATATGATTATAATCTCTCCAAAATGATAAATAAGCCCTTGGTCATGATAGCCTCAAAAGGCACAGAGACACAGTTGACGTGCTCTTCCCTGTCACTCTCATGCTGTCACCTGCGCCCTCTTGGAAAGCAATGGATCCCTCCACTCTATCCTTTTGGTTCATTTTAACTATTCAATAAGTAATATATTATTTTTAATCACATAAATGAATAATAAAGCTCTTAGATCTTTGCAACATTTTTTACCCATACATTATCCTTTTGGAACCTGTTGGGCTTATAAAAACAAAACCAGATCATTCCTTTTCACAGCTGCATATACTGTATCGTATAAACACACCACACTTTATTTATCCATTCCCTTATATGCATAGGCATTTGCTTCCAGGTTTCAGCCATAACAAACAGTAGGCAATGAACATCTCTGTACATGTTCCCTTACACACGTGTGCAATAATTTCTCCATGGTATAGGCTCGGGGTTGGCAGACTACAGCCTGCAAGCCAAATCCTGCCTACCGCCTGTTTGGGTAATTAAATTTTATTGGCATGCAGCCAGGTCCATTCATTTCTGTACTTCTAGCACTGCTTTCTCACTACTATGGCAGACACGAGAAGTTGCGACAAAGACCATACGGCCCACAAAAGTCTAAAATATCTACGACCTCCCTTTACAGAAAAAGTTCACCAATTACTATATAGACCTACAAGAGAAATTGCTAAGTCAAAGATAGGCGTTTTCAAGTTTACTAATTACTTAGCAAATTGATTTCAAAGTGCCAGTAAACATTCAATGGAAGAAGCCAGGGTCTCTCTCCCCCAGGGAAAATAACGTATTCCTTCATACCGCTTTCTCCTCTTTTAAGCTATTCTTGGGAGCTCAGCCATCTGTGACCCACAGCAAGATGTGGATTCTTCAATCCCTGTTTTAAGGGAAGAACTTCTCAACCAAAACATAGGATCTTATTCTGACAAATCTCTCTTAGCACTTACAAAACAAAAACATAAGGAGGCTGCCTTTTCCAAAACCCCCTCCAGGTTATGACCTAGAAACAGCAGCGCCCTCTAGGCCCTCAAATCCAAAGTCACCTGCACCCTCCTTTCCACTGGCCCCCAGGTACGGGCACAGACCCTTCTTTGTGTTCATGGCTAGGAACATCTTCCAATGGGGATTTTAAAAAGAACTTTAAACATGCACACAGGGTGCTCTGGGAGCAGGATCTGGAAGCCCAGCCATTTCTAAAATGATTCAATCAAACTGCAGAGTATTTGGGCGAATGCAGTTTTTCCTCCTACTCACCATCCTGTGTGCAGGCTCCAAGAAGATTTATGATATTCTTGTGTTTCCCAATCATCTTCATCATCTCCATCTCTGACACCAGATCAGAAAGGTCTTTCTCTGTGGCATCATCTATGAACAGTAGGCATATTCACAAATCAGTTCATTTCCTCTAACTCATGGGCAGCTACTGTTAGTTGCCAAAGACTTAGTTGAAACAGCATGAAATTGAATTTCAGAATCAGAAAAGATTTTCCAAATCATCTCCCTCATTTTATCGAGGAAGGGACAAAGGCCTACACAGGGAACTGCCTCACTCTGTGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCTGAGCAGGTAAAGGGCTGCGACTTCTAGTGGCTTCTCAGAGGGCACTGCAGTTCCCATCCTAAGAAAAGTTACATAAACTTCCGCTCTGTAATTTCAAGCAAGAATGGCACAGGTTCCACATACGCGGGCTCGCAGTTAGCTTCTCTTAGATTCTCCTAAGTGGCAAGACTTTCCCATGTGCCCTCCACCTCAAGCTAATTCAGTATGGAAAAATCTGGGTTTCCTTTAAAAAAAAAATGAAATATGGGCATGGATAAGAACCATGTTGCAAACAGTTTTTTAGCTTCACAAAAGGAAGATCAATACAAGTGACTGTGTGTGCAAAATTTACACTGATGTATGTGAAGGAGGGAGCCACGGGCCATGAGGAGGGAGGGAGACACAGCCGTGGGCTGTAAGAAAGGACACGCCACAATGGCTTGGGGACTAATATCCTTCTGTGTCCTTACAGGGAAGGCTGCCAGCCTGGGCATCACAAGAGAAAGAGAACTCCCAGACCTCCCTTTTTGCAATATCCCATGTAACTCTGAGCTCCATTAGCAAAACCAGAAGTTCCGCCAAAAGAGATGAGAAGCCTGGGTCCTCCCCACACCTGGCCCTGGTACGCAGCCAGGGGCTGCCTCAGTCAGTGGTGCCATGACACCTGGGGCAAGACAGCACAGTGTTCCTCCCCGGCATCAGGCTCCAAGGTGGGGAACATCTCAAAGCACTCTAGTTTTCCTTGGGAGTCACTCAGATAAACAGCCTTTTAAAAAACCCAAAAAACAAAATGCACATCTTGTTGACAAAGTCCAGCCTGCTACTTCCCCTTGGGAGGGATGTGATGACTATCCCATGAGAACCCACAAAAGAAAGACAAAGCCTAACTCCAGAGCGCCTGCGACATGCCCAGCACCATATCCCAAGGATGGGCCTCTCTGCCTGGAAACGTGGGAAACACTCGGCATGGGATCTTCTTTCCGAGATCCCTACAAGAGGATTTATAATGTGACAGTTCCCTATAACTCTTCTCATAAAAGAATACTGCAGGACGAATAAGTTAATGGTTAAAAGTTCTTTAAGTTCTTTGGACATGGGCATGAAGCAGGGTTGGAAGGTTAACGTAGAAGTGTTCACAGTCCCACAAACACAACACGACATTTACATCTCAGGGTAATTGTTTATGTGTCCCAGGAGGCTCTGCACCAGCCCTGATCCTGTTCACTCCTTCTCAGCTTCTAAGTGACTCTCCCAGACCAGTGTCATTTCTGCTTTGTTCCTCACGCAAAAGAGAAGGCTTTCTGCTCCCTTACGTCTCTTCGTTCCCTCCAAAAACACAAATTTTCTTGTACTTGTAAAGTTAAGGTTTAAGTCCCAAATCTAACACACCAACTCCTAGCTAATAAATTCAATTATATGTGAGTTGATAATTTCTAAGCACATAAAAATACAGAGAGAATGAAGAATTGTGGTCACGAAGAAGGAGTCAAAGAATAACTCTATGTAGGAGGCTACCGCTTTCTAACAAAACTGGCTTTTCTTTAT
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CCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTGCCTCATATCTGTAATCCCAGCCCTTACAGAGGCCGAGGCAGGTGGATCACATGAGGCCAGGAGTTCAAGACCAGCCTGGCCAGCATAGCGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACACACCTATAGTCCCAGCTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGTAGTGAGCCGAGATCACACCACTGCACTGCAGCCTAGGCAACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAGAAAAAGTTTTAACATACAGAAAAGCACACATAAAAATATGATTATAATCTCTCCAAAATGATAAATAAGCCCTTGGTCATGATAGCCTCAAAAGGCACAGAGACACAGTTGACGTGCTCTTCCCTGTCACTCTCATGCTGTCACCTGCGCCCTCTTGGAAAGCAATGGATCCCTCCACTCTATCCTTTTGGTTCATTTTAACTATTCAATAAGTAATATATTATTTTTAATCACATAAATGAATAATAAAGCTCTTAGATCTTTGCAACATTTTTTACCCATACATTATCCTTTTGGAACCTGTTGGGCTTATAAAAACAAAACCAGATCATTCCTTTTCACAGCTGCATATACTGTATCGTATAAACACACCACACTTTATTTATCCATTCCCTTATATGCATAGGCATTTGCTTCCAGGTTTCAGCCATAACAAACAGTAGGCAATGAACATCTCTGTACATGTTCCCTTACACACGTGTGCAATAATTTCTCCATGGTATAGGCTCGGGGTTGGCAGACTACAGCCTGCAAGCCAAATCCTGCCTACCGCCTGTTTGGGTAATTAAATTTTATTGGCATGCAGCCAGGTCCATTCATTTCTGTACTTCTAGCACTGCTTTCTCACTACTATGGCAGACACGAGAAGTTGCGACAAAGACCATACGGCCCACAAAAGTCTAAAATATCTACGACCTCCCTTTACAGAAAAAGTTCACCAATTACTATATAGACCTACAAGAGAAATTGCTAAGTCAAAGATAGGCGTTTTCAAGTTTACTAATTACTTAGCAAATTGATTTCAAAGTGCCAGTAAACATTCAATGGAAGAAGCCAGGGTCTCTCTCCCCCAGGGAAAATAACGTATTCCTTCATACCGCTTTCTCCTCTTTTAAGCTATTCTTGGGAGCTCAGCCATCTGTGACCCACAGCAAGATGTGGATTCTTCAATCCCTGTTTTAAGGGAAGAACTTCTCAACCAAAACATAGGATCTTATTCTGACAAATCTCTCTTAGCACTTACAAAACAAAAACATAAGGAGGCTGCCTTTTCCAAAACCCCCTCCAGGTTATGACCTAGAAACAGCAGCGCCCTCTAGGCCCTCAAATCCAAAGTCACCTGCACCCTCCTTTCCACTGGCCCCCAGGTACGGGCACAGACCCTTCTTTGTGTTCATGGCTAGGAACATCTTCCAATGGGGATTTTAAAAAGAACTTTAAACATGCACACAGGGTGCTCTGGGAGCAGGATCTGGAAGCCCAGCCATTTCTAAAATGATTCAATCAAACTGCAGAGTATTTGGGCGAATGCAGTTTTTCCTCCTACTCACCATCCTGTGTGCAGGCTCCAAGAAGATTTATGATATTCTTGTGTTTCCCAATCATCTTCATCATCTCCATCTCTGACACCAGATCAGAAAGGTCTTCCTCTGTGGCATCATCTATGAACAGTAGGCATATTCACAAATCAGTTCATTTCCTCTAACTCATGGGCAGCTACTGTTAGTTGCCAAAGACTTAGTTGAAACAGCATGAAATTGAATTTCAGAATCAGAAAAGATTTTCCAAATCATCTCCCTCATTTTATCGAGGAAGGGACAAAGGCCTACACAGGGAACTGCCTCACTCTGTGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCTGAGCAGGTAAAGGGCTGCGACTTCTAGTGGCTTCTCAGAGGGCACTGCAGTTCCCATCCTAAGAAAAGTTACATAAACTTCCGCTCTGTAATTTCAAGCAAGAATGGCACAGGTTCCACATACGCGGGCTCGCAGTTAGCTTCTCTTAGATTCTCCTAAGTGGCAAGACTTTCCCATGTGCCCTCCACCTCAAGCTAATTCAGTATGGAAAAATCTGGGTTTCCTTTAAAAAAAAAATGAAATATGGGCATGGATAAGAACCATGTTGCAAACAGTTTTTTAGCTTCACAAAAGGAAGATCAATACAAGTGACTGTGTGTGCAAAATTTACACTGATGTATGTGAAGGAGGGAGCCACGGGCCATGAGGAGGGAGGGAGACACAGCCGTGGGCTGTAAGAAAGGACACGCCACAATGGCTTGGGGACTAATATCCTTCTGTGTCCTTACAGGGAAGGCTGCCAGCCTGGGCATCACAAGAGAAAGAGAACTCCCAGACCTCCCTTTTTGCAATATCCCATGTAACTCTGAGCTCCATTAGCAAAACCAGAAGTTCCGCCAAAAGAGATGAGAAGCCTGGGTCCTCCCCACACCTGGCCCTGGTACGCAGCCAGGGGCTGCCTCAGTCAGTGGTGCCATGACACCTGGGGCAAGACAGCACAGTGTTCCTCCCCGGCATCAGGCTCCAAGGTGGGGAACATCTCAAAGCACTCTAGTTTTCCTTGGGAGTCACTCAGATAAACAGCCTTTTAAAAAACCCAAAAAACAAAATGCACATCTTGTTGACAAAGTCCAGCCTGCTACTTCCCCTTGGGAGGGATGTGATGACTATCCCATGAGAACCCACAAAAGAAAGACAAAGCCTAACTCCAGAGCGCCTGCGACATGCCCAGCACCATATCCCAAGGATGGGCCTCTCTGCCTGGAAACGTGGGAAACACTCGGCATGGGATCTTCTTTCCGAGATCCCTACAAGAGGATTTATAATGTGACAGTTCCCTATAACTCTTCTCATAAAAGAATACTGCAGGACGAATAAGTTAATGGTTAAAAGTTCTTTAAGTTCTTTGGACATGGGCATGAAGCAGGGTTGGAAGGTTAACGTAGAAGTGTTCACAGTCCCACAAACACAACACGACATTTACATCTCAGGGTAATTGTTTATGTGTCCCAGGAGGCTCTGCACCAGCCCTGATCCTGTTCACTCCTTCTCAGCTTCTAAGTGACTCTCCCAGACCAGTGTCATTTCTGCTTTGTTCCTCACGCAAAAGAGAAGGCTTTCTGCTCCCTTACGTCTCTTCGTTCCCTCCAAAAACACAAATTTTCTTGTACTTGTAAAGTTAAGGTTTAAGTCCCAAATCTAACACACCAACTCCTAGCTAATAAATTCAATTATATGTGAGTTGATAATTTCTAAGCACATAAAAATACAGAGAGAATGAAGAATTGTGGTCACGAAGAAGGAGTCAAAGAATAACTCTATGTAGGAGGCTACCGCTTTCTAACAAAACTGGCTTTTCTTTAT
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Task1_train_14517
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Assess the clinical impact of this variant on gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Pfeiffer syndrome
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CCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTGCCTCATATCTGTAATCCCAGCCCTTACAGAGGCCGAGGCAGGTGGATCACATGAGGCCAGGAGTTCAAGACCAGCCTGGCCAGCATAGCGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACACACCTATAGTCCCAGCTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGTAGTGAGCCGAGATCACACCACTGCACTGCAGCCTAGGCAACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAGAAAAAGTTTTAACATACAGAAAAGCACACATAAAAATATGATTATAATCTCTCCAAAATGATAAATAAGCCCTTGGTCATGATAGCCTCAAAAGGCACAGAGACACAGTTGACGTGCTCTTCCCTGTCACTCTCATGCTGTCACCTGCGCCCTCTTGGAAAGCAATGGATCCCTCCACTCTATCCTTTTGGTTCATTTTAACTATTCAATAAGTAATATATTATTTTTAATCACATAAATGAATAATAAAGCTCTTAGATCTTTGCAACATTTTTTACCCATACATTATCCTTTTGGAACCTGTTGGGCTTATAAAAACAAAACCAGATCATTCCTTTTCACAGCTGCATATACTGTATCGTATAAACACACCACACTTTATTTATCCATTCCCTTATATGCATAGGCATTTGCTTCCAGGTTTCAGCCATAACAAACAGTAGGCAATGAACATCTCTGTACATGTTCCCTTACACACGTGTGCAATAATTTCTCCATGGTATAGGCTCGGGGTTGGCAGACTACAGCCTGCAAGCCAAATCCTGCCTACCGCCTGTTTGGGTAATTAAATTTTATTGGCATGCAGCCAGGTCCATTCATTTCTGTACTTCTAGCACTGCTTTCTCACTACTATGGCAGACACGAGAAGTTGCGACAAAGACCATACGGCCCACAAAAGTCTAAAATATCTACGACCTCCCTTTACAGAAAAAGTTCACCAATTACTATATAGACCTACAAGAGAAATTGCTAAGTCAAAGATAGGCGTTTTCAAGTTTACTAATTACTTAGCAAATTGATTTCAAAGTGCCAGTAAACATTCAATGGAAGAAGCCAGGGTCTCTCTCCCCCAGGGAAAATAACGTATTCCTTCATACCGCTTTCTCCTCTTTTAAGCTATTCTTGGGAGCTCAGCCATCTGTGACCCACAGCAAGATGTGGATTCTTCAATCCCTGTTTTAAGGGAAGAACTTCTCAACCAAAACATAGGATCTTATTCTGACAAATCTCTCTTAGCACTTACAAAACAAAAACATAAGGAGGCTGCCTTTTCCAAAACCCCCTCCAGGTTATGACCTAGAAACAGCAGCGCCCTCTAGGCCCTCAAATCCAAAGTCACCTGCACCCTCCTTTCCACTGGCCCCCAGGTACGGGCACAGACCCTTCTTTGTGTTCATGGCTAGGAACATCTTCCAATGGGGATTTTAAAAAGAACTTTAAACATGCACACAGGGTGCTCTGGGAGCAGGATCTGGAAGCCCAGCCATTTCTAAAATGATTCAATCAAACTGCAGAGTATTTGGGCGAATGCAGTTTTTCCTCCTACTCACCATCCTGTGTGCAGGCTCCAAGAAGATTTATGATATTCTTGTGTTTCCCAATCATCTTCATCATCTCCATCTCTGACACCAGATCAGAAAGGTCTTTCTCTGTGGCATCATCTATGAACAGTAGGCATATTCACAAATCAGTTCATTTCCTCTAACTCATGGGCAGCTACTGTTAGTTGCCAAAGACTTAGTTGAAACAGCATGAAATTGAATTTCAGAATCAGAAAAGATTTTCCAAATCATCTCCCTCATTTTATCGAGGAAGGGACAAAGGCCTACACAGGGAACTGCCTCACTCTGTGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCTGAGCAGGTAAAGGGCTGCGACTTCTAGTGGCTTCTCAGAGGGCACTGCAGTTCCCATCCTAAGAAAAGTTACATAAACTTCCGCTCTGTAATTTCAAGCAAGAATGGCACAGGTTCCACATACGCGGGCTCGCAGTTAGCTTCTCTTAGATTCTCCTAAGTGGCAAGACTTTCCCATGTGCCCTCCACCTCAAGCTAATTCAGTATGGAAAAATCTGGGTTTCCTTTAAAAAAAAAATGAAATATGGGCATGGATAAGAACCATGTTGCAAACAGTTTTTTAGCTTCACAAAAGGAAGATCAATACAAGTGACTGTGTGTGCAAAATTTACACTGATGTATGTGAAGGAGGGAGCCACGGGCCATGAGGAGGGAGGGAGACACAGCCGTGGGCTGTAAGAAAGGACACGCCACAATGGCTTGGGGACTAATATCCTTCTGTGTCCTTACAGGGAAGGCTGCCAGCCTGGGCATCACAAGAGAAAGAGAACTCCCAGACCTCCCTTTTTGCAATATCCCATGTAACTCTGAGCTCCATTAGCAAAACCAGAAGTTCCGCCAAAAGAGATGAGAAGCCTGGGTCCTCCCCACACCTGGCCCTGGTACGCAGCCAGGGGCTGCCTCAGTCAGTGGTGCCATGACACCTGGGGCAAGACAGCACAGTGTTCCTCCCCGGCATCAGGCTCCAAGGTGGGGAACATCTCAAAGCACTCTAGTTTTCCTTGGGAGTCACTCAGATAAACAGCCTTTTAAAAAACCCAAAAAACAAAATGCACATCTTGTTGACAAAGTCCAGCCTGCTACTTCCCCTTGGGAGGGATGTGATGACTATCCCATGAGAACCCACAAAAGAAAGACAAAGCCTAACTCCAGAGCGCCTGCGACATGCCCAGCACCATATCCCAAGGATGGGCCTCTCTGCCTGGAAACGTGGGAAACACTCGGCATGGGATCTTCTTTCCGAGATCCCTACAAGAGGATTTATAATGTGACAGTTCCCTATAACTCTTCTCATAAAAGAATACTGCAGGACGAATAAGTTAATGGTTAAAAGTTCTTTAAGTTCTTTGGACATGGGCATGAAGCAGGGTTGGAAGGTTAACGTAGAAGTGTTCACAGTCCCACAAACACAACACGACATTTACATCTCAGGGTAATTGTTTATGTGTCCCAGGAGGCTCTGCACCAGCCCTGATCCTGTTCACTCCTTCTCAGCTTCTAAGTGACTCTCCCAGACCAGTGTCATTTCTGCTTTGTTCCTCACGCAAAAGAGAAGGCTTTCTGCTCCCTTACGTCTCTTCGTTCCCTCCAAAAACACAAATTTTCTTGTACTTGTAAAGTTAAGGTTTAAGTCCCAAATCTAACACACCAACTCCTAGCTAATAAATTCAATTATATGTGAGTTGATAATTTCTAAGCACATAAAAATACAGAGAGAATGAAGAATTGTGGTCACGAAGAAGGAGTCAAAGAATAACTCTATGTAGGAGGCTACCGCTTTCTAACAAAACTGGCTTTTCTTTAT
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CCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTGCCTCATATCTGTAATCCCAGCCCTTACAGAGGCCGAGGCAGGTGGATCACATGAGGCCAGGAGTTCAAGACCAGCCTGGCCAGCATAGCGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACACACCTATAGTCCCAGCTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGTAGTGAGCCGAGATCACACCACTGCACTGCAGCCTAGGCAACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAGAAAAAGTTTTAACATACAGAAAAGCACACATAAAAATATGATTATAATCTCTCCAAAATGATAAATAAGCCCTTGGTCATGATAGCCTCAAAAGGCACAGAGACACAGTTGACGTGCTCTTCCCTGTCACTCTCATGCTGTCACCTGCGCCCTCTTGGAAAGCAATGGATCCCTCCACTCTATCCTTTTGGTTCATTTTAACTATTCAATAAGTAATATATTATTTTTAATCACATAAATGAATAATAAAGCTCTTAGATCTTTGCAACATTTTTTACCCATACATTATCCTTTTGGAACCTGTTGGGCTTATAAAAACAAAACCAGATCATTCCTTTTCACAGCTGCATATACTGTATCGTATAAACACACCACACTTTATTTATCCATTCCCTTATATGCATAGGCATTTGCTTCCAGGTTTCAGCCATAACAAACAGTAGGCAATGAACATCTCTGTACATGTTCCCTTACACACGTGTGCAATAATTTCTCCATGGTATAGGCTCGGGGTTGGCAGACTACAGCCTGCAAGCCAAATCCTGCCTACCGCCTGTTTGGGTAATTAAATTTTATTGGCATGCAGCCAGGTCCATTCATTTCTGTACTTCTAGCACTGCTTTCTCACTACTATGGCAGACACGAGAAGTTGCGACAAAGACCATACGGCCCACAAAAGTCTAAAATATCTACGACCTCCCTTTACAGAAAAAGTTCACCAATTACTATATAGACCTACAAGAGAAATTGCTAAGTCAAAGATAGGCGTTTTCAAGTTTACTAATTACTTAGCAAATTGATTTCAAAGTGCCAGTAAACATTCAATGGAAGAAGCCAGGGTCTCTCTCCCCCAGGGAAAATAACGTATTCCTTCATACCGCTTTCTCCTCTTTTAAGCTATTCTTGGGAGCTCAGCCATCTGTGACCCACAGCAAGATGTGGATTCTTCAATCCCTGTTTTAAGGGAAGAACTTCTCAACCAAAACATAGGATCTTATTCTGACAAATCTCTCTTAGCACTTACAAAACAAAAACATAAGGAGGCTGCCTTTTCCAAAACCCCCTCCAGGTTATGACCTAGAAACAGCAGCGCCCTCTAGGCCCTCAAATCCAAAGTCACCTGCACCCTCCTTTCCACTGGCCCCCAGGTACGGGCACAGACCCTTCTTTGTGTTCATGGCTAGGAACATCTTCCAATGGGGATTTTAAAAAGAACTTTAAACATGCACACAGGGTGCTCTGGGAGCAGGATCTGGAAGCCCAGCCATTTCTAAAATGATTCAATCAAACTGCAGAGTATTTGGGCGAATGCAGTTTTTCCTCCTACTCACCATCCTGTGTGCAGGCTCCAAGAAGATTTATGATATTCTTGTGTTTCCCAATCATCTTCATCATCTCCATCTCTGACACCAGATCAGAAAGGTCTTCCTCTGTGGCATCATCTATGAACAGTAGGCATATTCACAAATCAGTTCATTTCCTCTAACTCATGGGCAGCTACTGTTAGTTGCCAAAGACTTAGTTGAAACAGCATGAAATTGAATTTCAGAATCAGAAAAGATTTTCCAAATCATCTCCCTCATTTTATCGAGGAAGGGACAAAGGCCTACACAGGGAACTGCCTCACTCTGTGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCTGAGCAGGTAAAGGGCTGCGACTTCTAGTGGCTTCTCAGAGGGCACTGCAGTTCCCATCCTAAGAAAAGTTACATAAACTTCCGCTCTGTAATTTCAAGCAAGAATGGCACAGGTTCCACATACGCGGGCTCGCAGTTAGCTTCTCTTAGATTCTCCTAAGTGGCAAGACTTTCCCATGTGCCCTCCACCTCAAGCTAATTCAGTATGGAAAAATCTGGGTTTCCTTTAAAAAAAAAATGAAATATGGGCATGGATAAGAACCATGTTGCAAACAGTTTTTTAGCTTCACAAAAGGAAGATCAATACAAGTGACTGTGTGTGCAAAATTTACACTGATGTATGTGAAGGAGGGAGCCACGGGCCATGAGGAGGGAGGGAGACACAGCCGTGGGCTGTAAGAAAGGACACGCCACAATGGCTTGGGGACTAATATCCTTCTGTGTCCTTACAGGGAAGGCTGCCAGCCTGGGCATCACAAGAGAAAGAGAACTCCCAGACCTCCCTTTTTGCAATATCCCATGTAACTCTGAGCTCCATTAGCAAAACCAGAAGTTCCGCCAAAAGAGATGAGAAGCCTGGGTCCTCCCCACACCTGGCCCTGGTACGCAGCCAGGGGCTGCCTCAGTCAGTGGTGCCATGACACCTGGGGCAAGACAGCACAGTGTTCCTCCCCGGCATCAGGCTCCAAGGTGGGGAACATCTCAAAGCACTCTAGTTTTCCTTGGGAGTCACTCAGATAAACAGCCTTTTAAAAAACCCAAAAAACAAAATGCACATCTTGTTGACAAAGTCCAGCCTGCTACTTCCCCTTGGGAGGGATGTGATGACTATCCCATGAGAACCCACAAAAGAAAGACAAAGCCTAACTCCAGAGCGCCTGCGACATGCCCAGCACCATATCCCAAGGATGGGCCTCTCTGCCTGGAAACGTGGGAAACACTCGGCATGGGATCTTCTTTCCGAGATCCCTACAAGAGGATTTATAATGTGACAGTTCCCTATAACTCTTCTCATAAAAGAATACTGCAGGACGAATAAGTTAATGGTTAAAAGTTCTTTAAGTTCTTTGGACATGGGCATGAAGCAGGGTTGGAAGGTTAACGTAGAAGTGTTCACAGTCCCACAAACACAACACGACATTTACATCTCAGGGTAATTGTTTATGTGTCCCAGGAGGCTCTGCACCAGCCCTGATCCTGTTCACTCCTTCTCAGCTTCTAAGTGACTCTCCCAGACCAGTGTCATTTCTGCTTTGTTCCTCACGCAAAAGAGAAGGCTTTCTGCTCCCTTACGTCTCTTCGTTCCCTCCAAAAACACAAATTTTCTTGTACTTGTAAAGTTAAGGTTTAAGTCCCAAATCTAACACACCAACTCCTAGCTAATAAATTCAATTATATGTGAGTTGATAATTTCTAAGCACATAAAAATACAGAGAGAATGAAGAATTGTGGTCACGAAGAAGGAGTCAAAGAATAACTCTATGTAGGAGGCTACCGCTTTCTAACAAAACTGGCTTTTCTTTAT
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Task1_train_14518
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This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Levy-Hollister syndrome
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TGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCTGAGCAGGTAAAGGGCTGCGACTTCTAGTGGCTTCTCAGAGGGCACTGCAGTTCCCATCCTAAGAAAAGTTACATAAACTTCCGCTCTGTAATTTCAAGCAAGAATGGCACAGGTTCCACATACGCGGGCTCGCAGTTAGCTTCTCTTAGATTCTCCTAAGTGGCAAGACTTTCCCATGTGCCCTCCACCTCAAGCTAATTCAGTATGGAAAAATCTGGGTTTCCTTTAAAAAAAAAATGAAATATGGGCATGGATAAGAACCATGTTGCAAACAGTTTTTTAGCTTCACAAAAGGAAGATCAATACAAGTGACTGTGTGTGCAAAATTTACACTGATGTATGTGAAGGAGGGAGCCACGGGCCATGAGGAGGGAGGGAGACACAGCCGTGGGCTGTAAGAAAGGACACGCCACAATGGCTTGGGGACTAATATCCTTCTGTGTCCTTACAGGGAAGGCTGCCAGCCTGGGCATCACAAGAGAAAGAGAACTCCCAGACCTCCCTTTTTGCAATATCCCATGTAACTCTGAGCTCCATTAGCAAAACCAGAAGTTCCGCCAAAAGAGATGAGAAGCCTGGGTCCTCCCCACACCTGGCCCTGGTACGCAGCCAGGGGCTGCCTCAGTCAGTGGTGCCATGACACCTGGGGCAAGACAGCACAGTGTTCCTCCCCGGCATCAGGCTCCAAGGTGGGGAACATCTCAAAGCACTCTAGTTTTCCTTGGGAGTCACTCAGATAAACAGCCTTTTAAAAAACCCAAAAAACAAAATGCACATCTTGTTGACAAAGTCCAGCCTGCTACTTCCCCTTGGGAGGGATGTGATGACTATCCCATGAGAACCCACAAAAGAAAGACAAAGCCTAACTCCAGAGCGCCTGCGACATGCCCAGCACCATATCCCAAGGATGGGCCTCTCTGCCTGGAAACGTGGGAAACACTCGGCATGGGATCTTCTTTCCGAGATCCCTACAAGAGGATTTATAATGTGACAGTTCCCTATAACTCTTCTCATAAAAGAATACTGCAGGACGAATAAGTTAATGGTTAAAAGTTCTTTAAGTTCTTTGGACATGGGCATGAAGCAGGGTTGGAAGGTTAACGTAGAAGTGTTCACAGTCCCACAAACACAACACGACATTTACATCTCAGGGTAATTGTTTATGTGTCCCAGGAGGCTCTGCACCAGCCCTGATCCTGTTCACTCCTTCTCAGCTTCTAAGTGACTCTCCCAGACCAGTGTCATTTCTGCTTTGTTCCTCACGCAAAAGAGAAGGCTTTCTGCTCCCTTACGTCTCTTCGTTCCCTCCAAAAACACAAATTTTCTTGTACTTGTAAAGTTAAGGTTTAAGTCCCAAATCTAACACACCAACTCCTAGCTAATAAATTCAATTATATGTGAGTTGATAATTTCTAAGCACATAAAAATACAGAGAGAATGAAGAATTGTGGTCACGAAGAAGGAGTCAAAGAATAACTCTATGTAGGAGGCTACCGCTTTCTAACAAAACTGGCTTTTCTTTATAAGTACACACAGCTCAAGATAAATAGTCTGTCCGAGATGCTGATTTATACCGAAAACTTCTCAACCCCTAGGTCAACTATGTGCTCTCTGACCCCGTGCCATGATAGAGTTCACATGCCACAAAAGGAACTTTCTTGATAAGACTCTCCACCCAGCCCCTCCCCGAGCCTCCCGCCTCCCCGCTCACCTTTCAACATCTTCACGGCCACGGTGACCGCCTCCTTGGGCTTGTCTTTGTCAATTCCCACTGCTTCCGCCATGACCACTTGCCCAAAGCAACCTTCTCCCAGGGGCTTGCCCAGTGTCAGCCTAAATGTGTAAATAGGGGATTAGCACATAGCATCTGGTGATGGGGTGTAGTGAGGGAAATTCCAGAACTAAATATAAAAATCTTTCAGCGGCTTACTAAAGCATGGAGTGCTTATCATATGGAACTAATGAGACTTAGGGTACACACGCGCCTGAGTATTTTCCTAGTGACGTTTTAGAGAATGTCAATTACTGGTGGAACGGCTATTAAATTTCACATTGGTATTCTCGGTTTATTTTCTTTAGGGAAGGTATCCTTGCTAGTGCGGTGGTCAGCTTTCCTAAGTGCCAGAGAAGAGCTTTTGATCTTGAGCCAATTAAATATTTGTAATTTAGAATGGCTCAAAGAAAAAACGTTAAGACTGTTCTTATTTTTTTGTCCCTGTAAAATGGTGGCTTTAAAATTATTATTCAAATACCAATGGATTTTATGGTCACATTCCTTGCCAAGTTACAGGATATGCCTCTTAAAAGCATTTCAAGGAATCTCTAATTTTTTACTAAAAAGAAAATTCTAAAAAATTGGGGACTTTTTTTTTGACATAAGTTTAAAAGTCCTTATGACTACATAAAATTAACAATGAAGAAAATCCAAAGTGAACACCACAAATTAAATTTCTAAGATTACAAGGTCTATGCACATCGGACGAATAGCCATATATTGTCCTTGTGCATTCCAGAAACCAACAAAACGCAAAAGTCTTTGGAATACTTATGAATACGGCTCTTTCTAACTTAAGCATAACACAGCAAAGCATGGAGCTGCCATTAGTAAACAGTATTTAAGGTAAGTACACAATAGTTTGCAAAAGTGCAGCATAAAGACTAAGGGCAGCATGTGCTATGCTGAGGTCATTTTGTTTCTACCCAGAACGAAAATTAAATTTAACATCTTGGCAGAAAATAAATATTTGCATTGGAAAAATGGCTAATTTATGTCCCACCGCCTTGCTACTACAAGCATAACAATCCTTTCTTTGTATAACTTCTGCCTCCGATCTAATAAACTGCTTCTAAATAGCCTTCATTCATTGGAAATCTGTTCCACCTACGTTTGCGCTAAACACTGTTTTGAAATGTTTAGCACTCAGATTTTCCACACTCAGGGTACCCCGGGTGGGAGGTAACAGTTGGGCACATACAGACTTCCACTGTTGACTGTGGTGTCACAGGTGGCAAAAACTATGGACTAAACCCGAAAGCTGCAATTTCTTAAAATATGATCACAACTCCCCAGTTCAGTTATATATATAGGAATGTGCACATGAACCTATCTGTGTATATAATCACACACAAACTAGGGCTGGCGGAGTTCACAAGAAACATCCATTTCTCCACATCCTACAGGTAAAGAAACCATTCTTTGTGTTTTCTCTGGTGCCCCACCAGTAAATGTCCAATTAACATGCCTTGAGTGAATGAATAAGTGAATGAGTGAGTGGTCTTTTCACTACAGTATACAAATCAACTGGAAATTACTTCCATTAACACTCTAACCAAATAATATCCATACAATTATTCAGTCCTAGCTAACGGTACACATCTCTAAATTGGCACTTGGGAAACAAAACTGATGTGACATCACGTGAATCAAAATCAGAAGTGCCAGCCACATAAGCTACCTCTCCCTTCCAAATAGAGCTCATCAGATCAGTCTCTGGAAGAGCTTATCTTTGCATTTCCAAATGTGTATAGGTACACATGAGAAGTGTATATAATCTGAGGAGCTACTGAAAATGTCAAGGCAAACAGGGTAGCTGCTTATAAGCAAGTCAAGAGCTTATTCCAGTGTATGTGATGCAGAAGTAGTCAGCATTTCCACCTTCCCGTACTCTCAAGCTGTGACGACAAAAAGTACCCCAGAAGTGAGTGGACAGCCCTACAATGACCACTGCACTTCCTTTCATAAGGAGGATCTAGGGGTCGGTCCCTGCCTAGAGGAC
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TGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCTGAGCAGGTAAAGGGCTGCGACTTCTAGTGGCTTCTCAGAGGGCACTGCAGTTCCCATCCTAAGAAAAGTTACATAAACTTCCGCTCTGTAATTTCAAGCAAGAATGGCACAGGTTCCACATACGCGGGCTCGCAGTTAGCTTCTCTTAGATTCTCCTAAGTGGCAAGACTTTCCCATGTGCCCTCCACCTCAAGCTAATTCAGTATGGAAAAATCTGGGTTTCCTTTAAAAAAAAAATGAAATATGGGCATGGATAAGAACCATGTTGCAAACAGTTTTTTAGCTTCACAAAAGGAAGATCAATACAAGTGACTGTGTGTGCAAAATTTACACTGATGTATGTGAAGGAGGGAGCCACGGGCCATGAGGAGGGAGGGAGACACAGCCGTGGGCTGTAAGAAAGGACACGCCACAATGGCTTGGGGACTAATATCCTTCTGTGTCCTTACAGGGAAGGCTGCCAGCCTGGGCATCACAAGAGAAAGAGAACTCCCAGACCTCCCTTTTTGCAATATCCCATGTAACTCTGAGCTCCATTAGCAAAACCAGAAGTTCCGCCAAAAGAGATGAGAAGCCTGGGTCCTCCCCACACCTGGCCCTGGTACGCAGCCAGGGGCTGCCTCAGTCAGTGGTGCCATGACACCTGGGGCAAGACAGCACAGTGTTCCTCCCCGGCATCAGGCTCCAAGGTGGGGAACATCTCAAAGCACTCTAGTTTTCCTTGGGAGTCACTCAGATAAACAGCCTTTTAAAAAACCCAAAAAACAAAATGCACATCTTGTTGACAAAGTCCAGCCTGCTACTTCCCCTTGGGAGGGATGTGATGACTATCCCATGAGAACCCACAAAAGAAAGACAAAGCCTAACTCCAGAGCGCCTGCGACATGCCCAGCACCATATCCCAAGGATGGGCCTCTCTGCCTGGAAACGTGGGAAACACTCGGCATGGGATCTTCTTTCCGAGATCCCTACAAGAGGATTTATAATGTGACAGTTCCCTATAACTCTTCTCATAAAAGAATACTGCAGGACGAATAAGTTAATGGTTAAAAGTTCTTTAAGTTCTTTGGACATGGGCATGAAGCAGGGTTGGAAGGTTAACGTAGAAGTGTTCACAGTCCCACAAACACAACACGACATTTACATCTCAGGGTAATTGTTTATGTGTCCCAGGAGGCTCTGCACCAGCCCTGATCCTGTTCACTCCTTCTCAGCTTCTAAGTGACTCTCCCAGACCAGTGTCATTTCTGCTTTGTTCCTCACGCAAAAGAGAAGGCTTTCTGCTCCCTTACGTCTCTTCGTTCCCTCCAAAAACACAAATTTTCTTGTACTTGTAAAGTTAAGGTTTAAGTCCCAAATCTAACACACCAACTCCTAGCTAATAAATTCAATTATATGTGAGTTGATAATTTCTAAGCACATAAAAATACAGAGAGAATGAAGAATTGTGGTCACGAAGAAGGAGTCAAAGAATAACTCTATGTAGGAGGCTACCGCTTTCTAACAAAACTGGCTTTTCTTTATAAGTACACACAGCTCAAGATAAATAGTCTGTCCGAGATGCTGATTTATACCGAAAACTTCTCAACCCCTAGGTCAACTATGTGCTCTCTGACCCCGTGCCATGATAGAGTTCACATGCCACAAAAGGAACTTTCTTGATAAGACTCTCCACCCAGCCCCTCCCCGAGCCTCCCGCCTCCCCGCTCACCTTTCAACATCTTCACGACCACGGTGACCGCCTCCTTGGGCTTGTCTTTGTCAATTCCCACTGCTTCCGCCATGACCACTTGCCCAAAGCAACCTTCTCCCAGGGGCTTGCCCAGTGTCAGCCTAAATGTGTAAATAGGGGATTAGCACATAGCATCTGGTGATGGGGTGTAGTGAGGGAAATTCCAGAACTAAATATAAAAATCTTTCAGCGGCTTACTAAAGCATGGAGTGCTTATCATATGGAACTAATGAGACTTAGGGTACACACGCGCCTGAGTATTTTCCTAGTGACGTTTTAGAGAATGTCAATTACTGGTGGAACGGCTATTAAATTTCACATTGGTATTCTCGGTTTATTTTCTTTAGGGAAGGTATCCTTGCTAGTGCGGTGGTCAGCTTTCCTAAGTGCCAGAGAAGAGCTTTTGATCTTGAGCCAATTAAATATTTGTAATTTAGAATGGCTCAAAGAAAAAACGTTAAGACTGTTCTTATTTTTTTGTCCCTGTAAAATGGTGGCTTTAAAATTATTATTCAAATACCAATGGATTTTATGGTCACATTCCTTGCCAAGTTACAGGATATGCCTCTTAAAAGCATTTCAAGGAATCTCTAATTTTTTACTAAAAAGAAAATTCTAAAAAATTGGGGACTTTTTTTTTGACATAAGTTTAAAAGTCCTTATGACTACATAAAATTAACAATGAAGAAAATCCAAAGTGAACACCACAAATTAAATTTCTAAGATTACAAGGTCTATGCACATCGGACGAATAGCCATATATTGTCCTTGTGCATTCCAGAAACCAACAAAACGCAAAAGTCTTTGGAATACTTATGAATACGGCTCTTTCTAACTTAAGCATAACACAGCAAAGCATGGAGCTGCCATTAGTAAACAGTATTTAAGGTAAGTACACAATAGTTTGCAAAAGTGCAGCATAAAGACTAAGGGCAGCATGTGCTATGCTGAGGTCATTTTGTTTCTACCCAGAACGAAAATTAAATTTAACATCTTGGCAGAAAATAAATATTTGCATTGGAAAAATGGCTAATTTATGTCCCACCGCCTTGCTACTACAAGCATAACAATCCTTTCTTTGTATAACTTCTGCCTCCGATCTAATAAACTGCTTCTAAATAGCCTTCATTCATTGGAAATCTGTTCCACCTACGTTTGCGCTAAACACTGTTTTGAAATGTTTAGCACTCAGATTTTCCACACTCAGGGTACCCCGGGTGGGAGGTAACAGTTGGGCACATACAGACTTCCACTGTTGACTGTGGTGTCACAGGTGGCAAAAACTATGGACTAAACCCGAAAGCTGCAATTTCTTAAAATATGATCACAACTCCCCAGTTCAGTTATATATATAGGAATGTGCACATGAACCTATCTGTGTATATAATCACACACAAACTAGGGCTGGCGGAGTTCACAAGAAACATCCATTTCTCCACATCCTACAGGTAAAGAAACCATTCTTTGTGTTTTCTCTGGTGCCCCACCAGTAAATGTCCAATTAACATGCCTTGAGTGAATGAATAAGTGAATGAGTGAGTGGTCTTTTCACTACAGTATACAAATCAACTGGAAATTACTTCCATTAACACTCTAACCAAATAATATCCATACAATTATTCAGTCCTAGCTAACGGTACACATCTCTAAATTGGCACTTGGGAAACAAAACTGATGTGACATCACGTGAATCAAAATCAGAAGTGCCAGCCACATAAGCTACCTCTCCCTTCCAAATAGAGCTCATCAGATCAGTCTCTGGAAGAGCTTATCTTTGCATTTCCAAATGTGTATAGGTACACATGAGAAGTGTATATAATCTGAGGAGCTACTGAAAATGTCAAGGCAAACAGGGTAGCTGCTTATAAGCAAGTCAAGAGCTTATTCCAGTGTATGTGATGCAGAAGTAGTCAGCATTTCCACCTTCCCGTACTCTCAAGCTGTGACGACAAAAAGTACCCCAGAAGTGAGTGGACAGCCCTACAATGACCACTGCACTTCCTTTCATAAGGAGGATCTAGGGGTCGGTCCCTGCCTAGAGGAC
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Task1_train_14519
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This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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CTCTTAAAGAAAAAATATAAATGGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAG
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CTCTTAAAGAAAAAATATAAATGGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCCTACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAG
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Task1_train_14520
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Given a variant located on Chromosome 10 and affecting FGFR2 (fibroblast growth factor receptor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Acrocephalosyndactyly type I
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14521
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With a mutation on Chromosome 10 in gene FGFR2 (fibroblast growth factor receptor 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Familial scaphocephaly syndrome, McGillivray type
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14522
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This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Jackson-Weiss syndrome
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14523
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Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Levy-Hollister syndrome
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14524
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The gene FGFR2 (fibroblast growth factor receptor 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14525
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This genomic variant is located on Chromosome 10, within the FGFR2 (fibroblast growth factor receptor 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Beare-Stevenson cutis gyrata syndrome
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14526
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A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Crouzon syndrome
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14527
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Chromosome 10 houses a mutation in gene FGFR2 (fibroblast growth factor receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Bent bone dysplasia syndrome 1
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14528
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Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Pfeiffer syndrome
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14529
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Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Saethre-Chotzen syndrome
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14530
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Given this variant in gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Neoplasm of stomach
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14531
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Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; FGFR2-related craniosynostosis
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCTTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGA
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Task1_train_14532
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Here is a mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Bent bone dysplasia syndrome 1
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TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACA
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TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTCAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACA
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Task1_train_14533
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Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Inborn genetic diseases
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TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACA
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TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTCAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACA
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Task1_train_14534
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This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; FGFR2-related disorder
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TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACA
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TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTCAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACA
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Task1_train_14535
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This genomic variant is located on Chromosome 10, within the FGFR2 (fibroblast growth factor receptor 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; FGFR2-related craniosynostosis
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TTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACC
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TTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTTCCCTATTAGAAAAAAAATAATAGAAACCATGTAAGAGTTATCTCAGGACTGGACTCTTCTAGAAACTGGTTGGCCAACTGGCCTCATCTTTGCTTTCCTGGCCCCAAGAAAGATAATCATGTCACTCAAAATGACAACAGCATTCTTGGTGGCAGACGTGACCCAACAGGCCCCTCTTTTCCATGCTGTTAACACAATTTGGTCATTCGCCTACGCTTGACACACACTTTAAATTCTATCCTCCGTCTCCACAAAGAAAGACCTGCTTGAAACATGGCTTTAGAGAAGTTAACAAGGACCCATTCAGCCAGGAGTTTGAAGCTGGGTTGTGAACAACCAGACCCATTCCAAAACCACTGCTGACCAACTGGTTCCTAATCCTTCCTAATGCCTTGTCCAGAAAATGTCATTCCTACCTGAAGTCCCGGGAGAGGCATGCCTGGAATTAACCTGGAGTTTCTCAAAGTGCATTCTAAAATCACCATAGGGCTTGTGTAAAATGCAGATTCCTGGCCCTATCCAAGATGACTGAACAAGAATCTCTGGGGCTGAGACAAAGGAATCTGAAATTTTAACAAGCACCCCGTACATTTTACTAAAATACACACTGAAATAGAGCCAATGAGTTTGCTGTTTTACTTGCTATTTCAAAAGAAACCTTTATCAGAACCAAGTTTCAAATGCTTTTGTAAACGTTCTGCATCTACATCTGCCTTCCGCTTCCATCTCTGTGAATAAGCAGAAAAGAGCTGAGGCATTTCCTGTCCCACCTACCTATGCAGGGCTTTGGTTTACACCAGAGGCTCCATCTTGCCCCATCTCCCCCAAAGCAAAATTAAACCAATCAGGAGGCACACACAAGCAAAAAGCAACCACCAAAGACCAAGTTGGTGGTTAAAAACAATCTGTTGCTGGTTCCATACAAATATTCTACTAATAAATCCACAGCCACACCTGTGAACTACTAACAATGAGACATAATAGATGCATACAATTCTATTGTAAATTGCAAAGAGGTTAAGCCAAAATTCTGTGTAGAAAGTTATTGTGCAACAGTTTAAATCAAACAGTTCAGATGCACCCCCAGGGCATAAGATACTGATCTTGACTTTAAAAAATAAGTCAGAGAACTTAGAGTCTCTTTCGTACTAGTGGCATAAGTCCCAAGCGAATGTTCATGCTTATCTTAAAAAAGGTATTAGATCACAGGACACGAATGTGGCTAAAGCTTCGAAGAGACCGCTGTACTTGAGTCTGATCAAACACACACAGGGGGATTTGCCTCCAGTTATTTCCAGTCCTGCTGATTAGTTTTCTGATTCTGACAGTATTGTCCTTTCTTGCCCTTGGAACTGGACCCCATTGATCCAAGCAACGCACCATGACTAGACTCTCCAAGCTCCAAACACTAACTGGGTGACCGCCAAGCATCACACCAGAATCACTCGCACATGGAAGCTCACAGAAGTCGATGGCATCAAAGCAGAGGACAAGATCCACAAGCTGGCTGGGTCATGGGGGAGGAGTAAATTTCTTTAAACTCTTTATCTACTTTCTGTTACCTGTCTCCGCAGGGGGATACGTTTGGTCAGCTTGTGCACAGCCGGCTGGCTGCTGAAGTCTGGCTTCTTGGTCGTGTTCTTCATTCGGCACAGGATGACTGTTACCACCATACAGGCGATTAAGAAGACCCCTATGCAGTAAATGGCTATCTCCAGGTAGTCTGGGCAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACC
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Task1_train_14536
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This alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; FGFR2-related craniosynostosis
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TAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTC
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TAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAATTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTC
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Task1_train_14537
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Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; FGFR2-related craniosynostosis
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TGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGT
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TGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCGACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGT
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Task1_train_14538
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Given a variant located on Chromosome 10 and affecting FGFR2 (fibroblast growth factor receptor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Acrocephalosyndactyly type I
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAAAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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Task1_train_14539
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A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; FGFR2-related craniosynostosis
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAAAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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Task1_train_14540
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Mutation context: Chromosome 10, Gene FGFR2 (fibroblast growth factor receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Crouzon syndrome
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCACAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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Task1_train_14541
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The gene FGFR2 (fibroblast growth factor receptor 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; See cases
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCACAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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Task1_train_14542
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Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Inborn genetic diseases
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCACAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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Task1_train_14543
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A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; FGFR2-related craniosynostosis
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCACAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTT
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Task1_train_14544
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Gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Pfeiffer syndrome
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CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGC
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CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGCATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGC
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Task1_train_14545
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This is a variant in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Crouzon syndrome
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CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGC
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CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGCATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGC
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Task1_train_14546
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This mutation is located in gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; FGFR2-related craniosynostosis
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CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGC
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CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGCATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGC
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Task1_train_14547
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This variant impacts the gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Pfeiffer syndrome
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ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTA
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ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCCCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTA
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Task1_train_14548
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Located on Chromosome 10, this mutation impacts FGFR2 (fibroblast growth factor receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; FGFR2-related craniosynostosis
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ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTA
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ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCCCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTA
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Task1_train_14549
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The gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; FGFR2-related disorder
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ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTA
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ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCCCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTA
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Task1_train_14550
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Gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; FGFR2-related craniosynostosis
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TTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTAT
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TTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGGCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTAT
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Task1_train_14551
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This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; FGFR2-related craniosynostosis
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AGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTC
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AGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAACCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTC
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Task1_train_14552
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The gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Jackson-Weiss syndrome
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGAACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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Task1_train_14553
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Here is a mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; FGFR2-related craniosynostosis
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGAACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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Task1_train_14554
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Here’s a variant in FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; FGFR2-related craniosynostosis
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGGACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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Task1_train_14555
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A variant was discovered in gene FGFR2 (fibroblast growth factor receptor 2), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Crouzon syndrome
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGGACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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Task1_train_14556
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A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Pfeiffer syndrome
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGGACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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Task1_train_14557
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Given this variant in gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Jackson-Weiss syndrome
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGGACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCT
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Task1_train_14558
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This mutation occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Pfeiffer syndrome
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCCCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14559
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The variant affects gene FGFR2 (fibroblast growth factor receptor 2), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; FGFR2-related syndromic and non-syndromic craniosynostoses
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCCCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14560
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A variant found in Chromosome 10 affects FGFR2 (fibroblast growth factor receptor 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; FGFR2-related craniosynostosis
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCCCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14561
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The gene FGFR2 (fibroblast growth factor receptor 2), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Pfeiffer syndrome
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCGCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14562
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Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCGCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14563
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Here is a mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Crouzon syndrome
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCGCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14564
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A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; FGFR2-related craniosynostosis
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCGCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14565
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Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; FGFR2-related craniosynostosis
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCTCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14566
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Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Pfeiffer syndrome
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCTCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14567
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Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Crouzon syndrome
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCTCGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTA
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Task1_train_14568
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A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; FGFR2-related craniosynostosis
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ACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAAT
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ACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGGATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAAT
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Task1_train_14569
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Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Pfeiffer syndrome
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ACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAAT
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ACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGGATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAAT
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Task1_train_14570
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A variant has been detected on Chromosome 10 in FGFR2 (fibroblast growth factor receptor 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; FGFR2-related craniosynostosis
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AGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCA
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AGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTACATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCA
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Task1_train_14571
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An alteration has been detected in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Pfeiffer syndrome
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AGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCA
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AGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTACATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCA
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Task1_train_14572
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Here’s a variant in FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Crouzon syndrome
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GGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCAC
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GGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATGTTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCAC
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Task1_train_14573
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With a mutation on Chromosome 10 in gene FGFR2 (fibroblast growth factor receptor 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; FGFR2-related craniosynostosis
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GGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCAC
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GGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATGTTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCAC
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Task1_train_14574
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This variant affects the gene FGFR2 (fibroblast growth factor receptor 2) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; FGFR2-related craniosynostosis
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GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGA
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GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCGAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGA
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Task1_train_14575
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Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Crouzon syndrome
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GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGA
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GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCGAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGA
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Task1_train_14576
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This mutation occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; FGFR2-related craniosynostosis
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GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGA
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GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCTAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGA
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Task1_train_14577
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The following genetic variant occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Crouzon syndrome
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ACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATG
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ACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGGGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATG
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Task1_train_14578
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Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; FGFR2-related craniosynostosis
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ACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATG
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ACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGGGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATG
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Task1_train_14579
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A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; FGFR2-related craniosynostosis
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ACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTT
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ACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATACAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTT
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Task1_train_14580
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The following genetic variant occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Crouzon syndrome
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ACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTT
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ACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATACAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTT
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Task1_train_14581
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A mutation on Chromosome 10 affecting FGFR2 (fibroblast growth factor receptor 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; FGFR2-related craniosynostosis
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GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAA
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GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGACCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAA
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Task1_train_14582
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Consider this mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; FGFR2-related craniosynostosis
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GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAA
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GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGGCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAA
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Task1_train_14583
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This alteration occurs within gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Pfeiffer syndrome
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GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAA
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GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGGCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAA
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Task1_train_14584
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Located on Chromosome 10, this mutation impacts FGFR2 (fibroblast growth factor receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; FGFR2-related craniosynostosis
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14585
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Mutation context: Chromosome 10, Gene FGFR2 (fibroblast growth factor receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Crouzon syndrome
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14586
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The variant affects gene FGFR2 (fibroblast growth factor receptor 2), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Gastric cancer
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14587
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This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; Familial scaphocephaly syndrome, McGillivray type
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14588
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A genomic change on Chromosome 10 affects FGFR2 (fibroblast growth factor receptor 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Crouzon syndrome
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14589
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A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Jackson-Weiss syndrome
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14590
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Assess the clinical impact of this variant on gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Bent bone dysplasia syndrome 1
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14591
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This is a variant in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Saethre-Chotzen syndrome
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14592
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The gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Pfeiffer syndrome
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14593
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A mutation on Chromosome 10 affecting FGFR2 (fibroblast growth factor receptor 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Beare-Stevenson cutis gyrata syndrome
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14594
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This variant affects the gene FGFR2 (fibroblast growth factor receptor 2) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14595
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Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Levy-Hollister syndrome
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14596
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The gene FGFR2 (fibroblast growth factor receptor 2), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Acrocephalosyndactyly type I
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAGTGACAATGCTTCAGTCTTACATGGGTAGGCTCTTCCAAAGGAAGACTCCACAGGATAATTTAACCCGGATGAACACAATTCCATATGAAACTGATGTTCATCTAGTAGGCTGGTCTGAAAAAGTTTTGGTGAATTCCTTAATACCATCTAGTCCATAAACAAACCAATGCATTAAATACACAGATTGAATTGCTTATAATATAGAACCATTAGATCCATAATACATAAAGATTATAATATTCTTTAATAACCTTTTAAGTTTATACATATCCGGTTATATTGTTATGTCACTACAGCTTTTCTCTTAAAGAAAAAACATAAAGGTATTATGTGTGAGTATACATATAATTACTTAATTTAGCACATTTTTATATCAACTTCCAATGTCTGACTTCTTCTTAGTCCTCGATGATCCATCTACAAGCAGTGTATTTCCAAATAGTGTTTTTCTCAAACTGCATTCTTAGTTAAGTGCTAGCACTGTCAGGCAAACTGGTTAAGAAGTGCCAGTTAGGCACCACAGAATGCAGTACTGCAAATAAAAGCAAGCTTCAACATAAGAGACATCTCTTTGTTTCAAAGCAAATATTCACAGAGCAGATTCGCAACAAAAGGAAAAACGGATGCAATGGTATTATTGAAAGCTTATACATTTTAATCAGAAAAATACTTGCAAGATAGTCAAAACTCTCAGCAGCAACAGCACAAAAATGAAACGATCTATTTTATTTTTACTAGATGTAAAATAAGCATGCAGGTAAGCACTGTACTCTAAAAACAAGGAATTAATAACTGGAGTGGAACATCATAAGCTAGCAAACCACAGTCTCTGCAGTTTCACAAAGGAAATGACAAAGAGGCAGATGCATCAGAGAGGACAGTGTTTAATTTCAAGAAAGTTTCACTAGAATAGAGATGTCGGTTAAAGATTCAGACAGCAGCAATGTTTAGGCAACAGGGCTGCAATGATGTTTATTTCTCTGTGAGGCAGAAATAACATCAAGCCCAAGATGGCAGGAGCATGCTTTGCAATGAAAGCAAACCGAAAGTCCATCCTATCGCAACATGCAGCAAGCCACCGATCCCCAAGGTAGGCAACACACTGCTTCTGTGCATCTGACATTCAGAGGTGCCGCTCCCCAGGCTCCTCCATACACATCCCTCTATTTACATCTCGTTAAAAATACAAAGTGGGATGAAAGCAATAAAAACACATACAGGATTTTAGCAAAATGGAATTTGAAATGAGAATAAATTACTTTGAATTTTACCAAAGTAATGGCAACTTGTTCCTTAAGAGAAAGGGGGATGGGCTAATTTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGTGGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAAAGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATATACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGTTACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTGTTAACACCGGAGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCTTCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTAGGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTAGTTCTATCTAAATTGCTGTGTTTTAAGACAACACACTGCACATAAGCCCAGATGGACACCTCACCCATCCTCCTGGCCCTGTGGGAACCAATTGGGGTGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAA
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Task1_train_14597
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A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Crouzon syndrome
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TGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAAAACGTGGCTACTAAAATTGGATCCTAATGTCCTATTAATAGAAAACAACATCAGAGTAACAATCAACACTGGCACAATGCCTTGAGCCTACAAAGCTCTTTCCATCCACTCCATCCCATTTATTCTGCACAACCGCCCTATGGGGGACAGAGTATCACGATCTCTACTTTTATAGAGGCGCAGCTAAGCCTAAATGTCTGCGATCTCAGGGCTGATAAATAGCTGAACTATTCTCTCTCCAAGTTTAGTAGTTCTTCCCCAAGTTTAGTAGTTCTTCCCCTACTCCATAGTTCCCTTCTGAAATTCTACTAGCAAGTGTAATGATCTGTTAATTCCTTAGAACACTCTCTGCTGGCTAGTCAAAAAAGAGAATCATCCTCTCTCAACTCCAACAGGAAATCAAAGAACCTGTGGCCAAACCCATGAAGGAGACCCCAGTTGTGGGTACCTTTAGATTCAGAAAGTCCTCACCTTGAGAACCTTGAGGTAGGGCAGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGCTGGGCATCACTGTAAACCTTGCAGACAAACTCTACGTCTCCTCCGACCACTGTGGAGGCATTTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGAGGCGATCGCTCTGGTGGAGAGAGGGAAGAAAGGAGGAGTGGGGATGGGAGAATGAGAGACCAATAAATAAGCTGTGTTGTCCAGAGGGCTGTCAGTGACCTCATGCCAGAAAAGCCTCAAGCCTGCTGGCTGACACCTTTGAAATAACACTGTGGCCCCATGAATAACAGAAACGACTTCAAAGGAGACTGCCGGAGCGCGACCCTTGTAAAAAGAACACTTACTTAGAAAATTGAGAAAAGAACTTATTACATCCCAGGTTATTGGCTGTCCACTGCCACCTGATGAATACGGGAAGAAATTCTACTCTGACAATCTAAGTGACAAATGGTAGGGGAGGGAAGCTTCTTCACTTATCCTATTTGAGATAATCTCAAAAACTCACCTCAACCACAAGCTTAACATCACAGGCAAATGACAAGACTAACTTTAAAGACACTCTGAATACCAAAAATGGTTTCAATAGGCACATGTCTCCCAATACATTTTTTTTTCTTTTCTCAGACGGGGTCTCACTTCATTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCAGCCTCCCAGGCTCAGGTGATTCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCAACCGCCACCACGCCCAGCTGACTTTCAAATGTTTTATAGAAAGAGGATTTCATCATGTTGCCTGGGCTGGTCTCAAACTCCTATGCTCAAGCGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGACGTGAGCCACCACGCTCGGCTCCAGTACATTTCTAAGATGCTCTGAGAAGACTTCCAACCTTTGTTTTAAAAATTAAACTAAAGCCTAAAGCCCAAAGTTATGAACAGATTTGATTAATAATGGGATTCACCTCTTTATTGTGGAATTCACTCCATTCATTCATTCTTTATTCACCCATTTAGCTCTTTGATGAATATCAGGTGTTACTCTATGCCAGTTACTAAATGCACAAGTAGATGTTTCTTAGCTTATTCCAATATGGCACTGAATGAAACATAAGGAGATGCTGGTTTCCAACTCCTGGCTATGTTTTAGACTGCCCTATAAAAGGGCAGAGATGGTATCCCAAAATTACTTCCTAGCTTCACTTGTCTTGCCTCTCTCTCCTTCGAGAACACGTTCTCAACAAAGAATACACCCTCTCATCTTATGCCTGGAAAGGCTTCTCTCCAGCTAAGAGGCGGTCTCTGCAAAACTTTTGTGGAGACAATCAAGCCAAGGTGTGCTAGCAACCACACATGAGACTCCTCAAGTGTTAAGTAATACCCATGGAAAAATGGGCTAAGGACTTAACTATGCATTTCTCCAAGACACAAATGGCCACTAGGTGTATGAAAAGTTTCTCAATGTCACTAATCATTAGAGAAATGCAAATCAGACGAGATCGGGCGCGTTCCAAATCAAAACCACAAGGAGCTATCACATGACACCTGTCAGGATGGGAAGAAAAAAAAAAAAAGACAAGTGTCGGCAAGGATGTGGAGACACTGGAACCCCTGCGCACTGTTGGTGGGAATATAAAATGATGCAGCCACCATGGAAAACAATATGGAGGTTCCTCAAAAAATTAAAAACAGAACTACCCTAAGATCCTGCAATCCCACTTCTCTATTTATCTAAAAGAACTGCAATCAGGATCTGCACTCCTATATTAATTGCAGCACCATTAACAATAGCCAAGAAATGGAATCAATCTAAGTGTCTGCCAAAGGATTAATTTTTACAATGTGGCTATATACACAACGGAATACTATTCAGCCATGAAGAAGGAGGAAATGGTGCAATATGTGACAACGTGGAAGCCATGATGCTAAGTGAAACAGGATAGTCACAGAAAGAC
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TGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAAAACGTGGCTACTAAAATTGGATCCTAATGTCCTATTAATAGAAAACAACATCAGAGTAACAATCAACACTGGCACAATGCCTTGAGCCTACAAAGCTCTTTCCATCCACTCCATCCCATTTATTCTGCACAACCGCCCTATGGGGGACAGAGTATCACGATCTCTACTTTTATAGAGGCGCAGCTAAGCCTAAATGTCTGCGATCTCAGGGCTGATAAATAGCTGAACTATTCTCTCTCCAAGTTTAGTAGTTCTTCCCCAAGTTTAGTAGTTCTTCCCCTACTCCATAGTTCCCTTCTGAAATTCTACTAGCAAGTGTAATGATCTGTTAATTCCTTAGAACACTCTCTGCTGGCTAGTCAAAAAAGAGAATCATCCTCTCTCAACTCCAACAGGAAATCAAAGAACCTGTGGCCAAACCCATGAAGGAGACCCCAGTTGTGGGTACCTTTAGATTCAGAAAGTCCTCACCTTGAGAACCTTGAGGCAGGGCAGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGCTGGGCATCACTGTAAACCTTGCAGACAAACTCTACGTCTCCTCCGACCACTGTGGAGGCATTTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGAGGCGATCGCTCTGGTGGAGAGAGGGAAGAAAGGAGGAGTGGGGATGGGAGAATGAGAGACCAATAAATAAGCTGTGTTGTCCAGAGGGCTGTCAGTGACCTCATGCCAGAAAAGCCTCAAGCCTGCTGGCTGACACCTTTGAAATAACACTGTGGCCCCATGAATAACAGAAACGACTTCAAAGGAGACTGCCGGAGCGCGACCCTTGTAAAAAGAACACTTACTTAGAAAATTGAGAAAAGAACTTATTACATCCCAGGTTATTGGCTGTCCACTGCCACCTGATGAATACGGGAAGAAATTCTACTCTGACAATCTAAGTGACAAATGGTAGGGGAGGGAAGCTTCTTCACTTATCCTATTTGAGATAATCTCAAAAACTCACCTCAACCACAAGCTTAACATCACAGGCAAATGACAAGACTAACTTTAAAGACACTCTGAATACCAAAAATGGTTTCAATAGGCACATGTCTCCCAATACATTTTTTTTTCTTTTCTCAGACGGGGTCTCACTTCATTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCAGCCTCCCAGGCTCAGGTGATTCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCAACCGCCACCACGCCCAGCTGACTTTCAAATGTTTTATAGAAAGAGGATTTCATCATGTTGCCTGGGCTGGTCTCAAACTCCTATGCTCAAGCGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGACGTGAGCCACCACGCTCGGCTCCAGTACATTTCTAAGATGCTCTGAGAAGACTTCCAACCTTTGTTTTAAAAATTAAACTAAAGCCTAAAGCCCAAAGTTATGAACAGATTTGATTAATAATGGGATTCACCTCTTTATTGTGGAATTCACTCCATTCATTCATTCTTTATTCACCCATTTAGCTCTTTGATGAATATCAGGTGTTACTCTATGCCAGTTACTAAATGCACAAGTAGATGTTTCTTAGCTTATTCCAATATGGCACTGAATGAAACATAAGGAGATGCTGGTTTCCAACTCCTGGCTATGTTTTAGACTGCCCTATAAAAGGGCAGAGATGGTATCCCAAAATTACTTCCTAGCTTCACTTGTCTTGCCTCTCTCTCCTTCGAGAACACGTTCTCAACAAAGAATACACCCTCTCATCTTATGCCTGGAAAGGCTTCTCTCCAGCTAAGAGGCGGTCTCTGCAAAACTTTTGTGGAGACAATCAAGCCAAGGTGTGCTAGCAACCACACATGAGACTCCTCAAGTGTTAAGTAATACCCATGGAAAAATGGGCTAAGGACTTAACTATGCATTTCTCCAAGACACAAATGGCCACTAGGTGTATGAAAAGTTTCTCAATGTCACTAATCATTAGAGAAATGCAAATCAGACGAGATCGGGCGCGTTCCAAATCAAAACCACAAGGAGCTATCACATGACACCTGTCAGGATGGGAAGAAAAAAAAAAAAAGACAAGTGTCGGCAAGGATGTGGAGACACTGGAACCCCTGCGCACTGTTGGTGGGAATATAAAATGATGCAGCCACCATGGAAAACAATATGGAGGTTCCTCAAAAAATTAAAAACAGAACTACCCTAAGATCCTGCAATCCCACTTCTCTATTTATCTAAAAGAACTGCAATCAGGATCTGCACTCCTATATTAATTGCAGCACCATTAACAATAGCCAAGAAATGGAATCAATCTAAGTGTCTGCCAAAGGATTAATTTTTACAATGTGGCTATATACACAACGGAATACTATTCAGCCATGAAGAAGGAGGAAATGGTGCAATATGTGACAACGTGGAAGCCATGATGCTAAGTGAAACAGGATAGTCACAGAAAGAC
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Task1_train_14598
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A mutation found in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Saethre-Chotzen syndrome
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TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAAAACGTGGCTACTAAAATTGGATCCTAATGTCCTATTAATAGAAAACAACATCAGAGTAACAATCAACACTGGCACAATGCCTTGAGCCTACAAAGCTCTTTCCATCCACTCCATCCCATTTATTCTGCACAACCGCCCTATGGGGGACAGAGTATCACGATCTCTACTTTTATAGAGGCGCAGCTAAGCCTAAATGTCTGCGATCTCAGGGCTGATAAATAGCTGAACTATTCTCTCTCCAAGTTTAGTAGTTCTTCCCCAAGTTTAGTAGTTCTTCCCCTACTCCATAGTTCCCTTCTGAAATTCTACTAGCAAGTGTAATGATCTGTTAATTCCTTAGAACACTCTCTGCTGGCTAGTCAAAAAAGAGAATCATCCTCTCTCAACTCCAACAGGAAATCAAAGAACCTGTGGCCAAACCCATGAAGGAGACCCCAGTTGTGGGTACCTTTAGATTCAGAAAGTCCTCACCTTGAGAACCTTGAGGTAGGGCAGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGCTGGGCATCACTGTAAACCTTGCAGACAAACTCTACGTCTCCTCCGACCACTGTGGAGGCATTTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGAGGCGATCGCTCTGGTGGAGAGAGGGAAGAAAGGAGGAGTGGGGATGGGAGAATGAGAGACCAATAAATAAGCTGTGTTGTCCAGAGGGCTGTCAGTGACCTCATGCCAGAAAAGCCTCAAGCCTGCTGGCTGACACCTTTGAAATAACACTGTGGCCCCATGAATAACAGAAACGACTTCAAAGGAGACTGCCGGAGCGCGACCCTTGTAAAAAGAACACTTACTTAGAAAATTGAGAAAAGAACTTATTACATCCCAGGTTATTGGCTGTCCACTGCCACCTGATGAATACGGGAAGAAATTCTACTCTGACAATCTAAGTGACAAATGGTAGGGGAGGGAAGCTTCTTCACTTATCCTATTTGAGATAATCTCAAAAACTCACCTCAACCACAAGCTTAACATCACAGGCAAATGACAAGACTAACTTTAAAGACACTCTGAATACCAAAAATGGTTTCAATAGGCACATGTCTCCCAATACATTTTTTTTTCTTTTCTCAGACGGGGTCTCACTTCATTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCAGCCTCCCAGGCTCAGGTGATTCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCAACCGCCACCACGCCCAGCTGACTTTCAAATGTTTTATAGAAAGAGGATTTCATCATGTTGCCTGGGCTGGTCTCAAACTCCTATGCTCAAGCGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGACGTGAGCCACCACGCTCGGCTCCAGTACATTTCTAAGATGCTCTGAGAAGACTTCCAACCTTTGTTTTAAAAATTAAACTAAAGCCTAAAGCCCAAAGTTATGAACAGATTTGATTAATAATGGGATTCACCTCTTTATTGTGGAATTCACTCCATTCATTCATTCTTTATTCACCCATTTAGCTCTTTGATGAATATCAGGTGTTACTCTATGCCAGTTACTAAATGCACAAGTAGATGTTTCTTAGCTTATTCCAATATGGCACTGAATGAAACATAAGGAGATGCTGGTTTCCAACTCCTGGCTATGTTTTAGACTGCCCTATAAAAGGGCAGAGATGGTATCCCAAAATTACTTCCTAGCTTCACTTGTCTTGCCTCTCTCTCCTTCGAGAACACGTTCTCAACAAAGAATACACCCTCTCATCTTATGCCTGGAAAGGCTTCTCTCCAGCTAAGAGGCGGTCTCTGCAAAACTTTTGTGGAGACAATCAAGCCAAGGTGTGCTAGCAACCACACATGAGACTCCTCAAGTGTTAAGTAATACCCATGGAAAAATGGGCTAAGGACTTAACTATGCATTTCTCCAAGACACAAATGGCCACTAGGTGTATGAAAAGTTTCTCAATGTCACTAATCATTAGAGAAATGCAAATCAGACGAGATCGGGCGCGTTCCAAATCAAAACCACAAGGAGCTATCACATGACACCTGTCAGGATGGGAAGAAAAAAAAAAAAAGACAAGTGTCGGCAAGGATGTGGAGACACTGGAACCCCTGCGCACTGTTGGTGGGAATATAAAATGATGCAGCCACCATGGAAAACAATATGGAGGTTCCTCAAAAAATTAAAAACAGAACTACCCTAAGATCCTGCAATCCCACTTCTCTATTTATCTAAAAGAACTGCAATCAGGATCTGCACTCCTATATTAATTGCAGCACCATTAACAATAGCCAAGAAATGGAATCAATCTAAGTGTCTGCCAAAGGATTAATTTTTACAATGTGGCTATATACACAACGGAATACTATTCAGCCATGAAGAAGGAGGAAATGGTGCAATATGTGACAACGTGGAAGCCATGATGCTAAGTGAAACAGGATAGTCACAGAAAGACAGACACTGCCTGACTCCACTGATATGAGGTATCTAAATTCATCGCATTCATAA
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TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAAAACGTGGCTACTAAAATTGGATCCTAATGTCCTATTAATAGAAAACAACATCAGAGTAACAATCAACACTGGCACAATGCCTTGAGCCTACAAAGCTCTTTCCATCCACTCCATCCCATTTATTCTGCACAACCGCCCTATGGGGGACAGAGTATCACGATCTCTACTTTTATAGAGGCGCAGCTAAGCCTAAATGTCTGCGATCTCAGGGCTGATAAATAGCTGAACTATTCTCTCTCCAAGTTTAGTAGTTCTTCCCCAAGTTTAGTAGTTCTTCCCCTACTCCATAGTTCCCTTCTGAAATTCTACTAGCAAGTGTAATGATCTGTTAATTCCTTAGAACACTCTCTGCTGGCTAGTCAAAAAAGAGAATCATCCTCTCTCAACTCCAACAGGAAATCAAAGAACCTGTGGCCAAACCCATGAAGGAGACCCCAGTTGTGGGTACCTTTAGATTCAGAAAGTCCTCACCTTGAGAACCTTGAGGTAGGGCAGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATACACTGGATGTGGGGCTGGGCATCACTGTAAACCTTGCAGACAAACTCTACGTCTCCTCCGACCACTGTGGAGGCATTTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGAGGCGATCGCTCTGGTGGAGAGAGGGAAGAAAGGAGGAGTGGGGATGGGAGAATGAGAGACCAATAAATAAGCTGTGTTGTCCAGAGGGCTGTCAGTGACCTCATGCCAGAAAAGCCTCAAGCCTGCTGGCTGACACCTTTGAAATAACACTGTGGCCCCATGAATAACAGAAACGACTTCAAAGGAGACTGCCGGAGCGCGACCCTTGTAAAAAGAACACTTACTTAGAAAATTGAGAAAAGAACTTATTACATCCCAGGTTATTGGCTGTCCACTGCCACCTGATGAATACGGGAAGAAATTCTACTCTGACAATCTAAGTGACAAATGGTAGGGGAGGGAAGCTTCTTCACTTATCCTATTTGAGATAATCTCAAAAACTCACCTCAACCACAAGCTTAACATCACAGGCAAATGACAAGACTAACTTTAAAGACACTCTGAATACCAAAAATGGTTTCAATAGGCACATGTCTCCCAATACATTTTTTTTTCTTTTCTCAGACGGGGTCTCACTTCATTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCAGCCTCCCAGGCTCAGGTGATTCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCAACCGCCACCACGCCCAGCTGACTTTCAAATGTTTTATAGAAAGAGGATTTCATCATGTTGCCTGGGCTGGTCTCAAACTCCTATGCTCAAGCGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGACGTGAGCCACCACGCTCGGCTCCAGTACATTTCTAAGATGCTCTGAGAAGACTTCCAACCTTTGTTTTAAAAATTAAACTAAAGCCTAAAGCCCAAAGTTATGAACAGATTTGATTAATAATGGGATTCACCTCTTTATTGTGGAATTCACTCCATTCATTCATTCTTTATTCACCCATTTAGCTCTTTGATGAATATCAGGTGTTACTCTATGCCAGTTACTAAATGCACAAGTAGATGTTTCTTAGCTTATTCCAATATGGCACTGAATGAAACATAAGGAGATGCTGGTTTCCAACTCCTGGCTATGTTTTAGACTGCCCTATAAAAGGGCAGAGATGGTATCCCAAAATTACTTCCTAGCTTCACTTGTCTTGCCTCTCTCTCCTTCGAGAACACGTTCTCAACAAAGAATACACCCTCTCATCTTATGCCTGGAAAGGCTTCTCTCCAGCTAAGAGGCGGTCTCTGCAAAACTTTTGTGGAGACAATCAAGCCAAGGTGTGCTAGCAACCACACATGAGACTCCTCAAGTGTTAAGTAATACCCATGGAAAAATGGGCTAAGGACTTAACTATGCATTTCTCCAAGACACAAATGGCCACTAGGTGTATGAAAAGTTTCTCAATGTCACTAATCATTAGAGAAATGCAAATCAGACGAGATCGGGCGCGTTCCAAATCAAAACCACAAGGAGCTATCACATGACACCTGTCAGGATGGGAAGAAAAAAAAAAAAAGACAAGTGTCGGCAAGGATGTGGAGACACTGGAACCCCTGCGCACTGTTGGTGGGAATATAAAATGATGCAGCCACCATGGAAAACAATATGGAGGTTCCTCAAAAAATTAAAAACAGAACTACCCTAAGATCCTGCAATCCCACTTCTCTATTTATCTAAAAGAACTGCAATCAGGATCTGCACTCCTATATTAATTGCAGCACCATTAACAATAGCCAAGAAATGGAATCAATCTAAGTGTCTGCCAAAGGATTAATTTTTACAATGTGGCTATATACACAACGGAATACTATTCAGCCATGAAGAAGGAGGAAATGGTGCAATATGTGACAACGTGGAAGCCATGATGCTAAGTGAAACAGGATAGTCACAGAAAGACAGACACTGCCTGACTCCACTGATATGAGGTATCTAAATTCATCGCATTCATAA
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Task1_train_14599
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A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Familial scaphocephaly syndrome, McGillivray type
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TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAAAACGTGGCTACTAAAATTGGATCCTAATGTCCTATTAATAGAAAACAACATCAGAGTAACAATCAACACTGGCACAATGCCTTGAGCCTACAAAGCTCTTTCCATCCACTCCATCCCATTTATTCTGCACAACCGCCCTATGGGGGACAGAGTATCACGATCTCTACTTTTATAGAGGCGCAGCTAAGCCTAAATGTCTGCGATCTCAGGGCTGATAAATAGCTGAACTATTCTCTCTCCAAGTTTAGTAGTTCTTCCCCAAGTTTAGTAGTTCTTCCCCTACTCCATAGTTCCCTTCTGAAATTCTACTAGCAAGTGTAATGATCTGTTAATTCCTTAGAACACTCTCTGCTGGCTAGTCAAAAAAGAGAATCATCCTCTCTCAACTCCAACAGGAAATCAAAGAACCTGTGGCCAAACCCATGAAGGAGACCCCAGTTGTGGGTACCTTTAGATTCAGAAAGTCCTCACCTTGAGAACCTTGAGGTAGGGCAGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGCTGGGCATCACTGTAAACCTTGCAGACAAACTCTACGTCTCCTCCGACCACTGTGGAGGCATTTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGAGGCGATCGCTCTGGTGGAGAGAGGGAAGAAAGGAGGAGTGGGGATGGGAGAATGAGAGACCAATAAATAAGCTGTGTTGTCCAGAGGGCTGTCAGTGACCTCATGCCAGAAAAGCCTCAAGCCTGCTGGCTGACACCTTTGAAATAACACTGTGGCCCCATGAATAACAGAAACGACTTCAAAGGAGACTGCCGGAGCGCGACCCTTGTAAAAAGAACACTTACTTAGAAAATTGAGAAAAGAACTTATTACATCCCAGGTTATTGGCTGTCCACTGCCACCTGATGAATACGGGAAGAAATTCTACTCTGACAATCTAAGTGACAAATGGTAGGGGAGGGAAGCTTCTTCACTTATCCTATTTGAGATAATCTCAAAAACTCACCTCAACCACAAGCTTAACATCACAGGCAAATGACAAGACTAACTTTAAAGACACTCTGAATACCAAAAATGGTTTCAATAGGCACATGTCTCCCAATACATTTTTTTTTCTTTTCTCAGACGGGGTCTCACTTCATTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCAGCCTCCCAGGCTCAGGTGATTCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCAACCGCCACCACGCCCAGCTGACTTTCAAATGTTTTATAGAAAGAGGATTTCATCATGTTGCCTGGGCTGGTCTCAAACTCCTATGCTCAAGCGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGACGTGAGCCACCACGCTCGGCTCCAGTACATTTCTAAGATGCTCTGAGAAGACTTCCAACCTTTGTTTTAAAAATTAAACTAAAGCCTAAAGCCCAAAGTTATGAACAGATTTGATTAATAATGGGATTCACCTCTTTATTGTGGAATTCACTCCATTCATTCATTCTTTATTCACCCATTTAGCTCTTTGATGAATATCAGGTGTTACTCTATGCCAGTTACTAAATGCACAAGTAGATGTTTCTTAGCTTATTCCAATATGGCACTGAATGAAACATAAGGAGATGCTGGTTTCCAACTCCTGGCTATGTTTTAGACTGCCCTATAAAAGGGCAGAGATGGTATCCCAAAATTACTTCCTAGCTTCACTTGTCTTGCCTCTCTCTCCTTCGAGAACACGTTCTCAACAAAGAATACACCCTCTCATCTTATGCCTGGAAAGGCTTCTCTCCAGCTAAGAGGCGGTCTCTGCAAAACTTTTGTGGAGACAATCAAGCCAAGGTGTGCTAGCAACCACACATGAGACTCCTCAAGTGTTAAGTAATACCCATGGAAAAATGGGCTAAGGACTTAACTATGCATTTCTCCAAGACACAAATGGCCACTAGGTGTATGAAAAGTTTCTCAATGTCACTAATCATTAGAGAAATGCAAATCAGACGAGATCGGGCGCGTTCCAAATCAAAACCACAAGGAGCTATCACATGACACCTGTCAGGATGGGAAGAAAAAAAAAAAAAGACAAGTGTCGGCAAGGATGTGGAGACACTGGAACCCCTGCGCACTGTTGGTGGGAATATAAAATGATGCAGCCACCATGGAAAACAATATGGAGGTTCCTCAAAAAATTAAAAACAGAACTACCCTAAGATCCTGCAATCCCACTTCTCTATTTATCTAAAAGAACTGCAATCAGGATCTGCACTCCTATATTAATTGCAGCACCATTAACAATAGCCAAGAAATGGAATCAATCTAAGTGTCTGCCAAAGGATTAATTTTTACAATGTGGCTATATACACAACGGAATACTATTCAGCCATGAAGAAGGAGGAAATGGTGCAATATGTGACAACGTGGAAGCCATGATGCTAAGTGAAACAGGATAGTCACAGAAAGACAGACACTGCCTGACTCCACTGATATGAGGTATCTAAATTCATCGCATTCATAA
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TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTTAAAAACTGGGTGGGGGTGGAGGCTAATCTCTAGAAGAAATTGGAGCAAGCACTTTGAACGTTGTGGGCATTTTTCCATGGCTACTGGCATCATACCAGCTGCATCACCGAAGAAAGATTATTATAAATATACCAAGGCCACAAGAGTTATCCTATAAGCTGCCTGCAGTCTCCCAAAGCACCAAGTCTTTTCAGCTTCTATATCCAGCTTTCTTTTTAAAAAAAGACAAAAATGAAAGCATTGTTACCTTGCTGTTTTGGCAGGACAGTGAGCCAGGCAGACTGGTTGGCCTGCCCTATATAATTGGAGACCTTACATATATATTCCCCAGCATCCGCCTCGGTCACATTGAACAGAGCCAGCACTTCTGCATTGGAACTATTTATCCCCGAGTGCTAGAACAGACACAGGAGAACAATATAACGGCCAACCAGGAAGGTCTTAGCATTGTCTATGGTCCCACCACCAACACACCGCAAGAAAACAAACTCCATTACGTCTAAACAGCGGCATTAAAGGGCTGCGGATTTTAAAGAACAAAATCAGTCCAGTGGTGGACAACGGAAAGACCTGGTGGAGAGAAGGGCAGGAGGGTGTGAGCGATAGCTAACTGGATAGGTCGGGTGGGTCCCCAGGTTGGTCATCTTTTCCCAATGCCTTTGATCCTTGGAATTATTAGCTGGTGAGAACACTTCATTGGCTGAAAGTTCTTAGCTGGGTCACCTATGGTTCTACTGGAAGAATGTTCTTCTTAAGGACATTCATTCTCCATGAGCAACTAGACATGGGAGGCGTGGTAGGCAAGGAGTTAAGAGCCAGCTGTACAGACTTAGCTGCCCCTGTCCTCAGTCTCCTGAAGAGCAAACCTAGATCTAAAAAAGAGGCAGATGCTATGAAAATGGGGGCTTGCAAATAAGAAATAAGGAGGGAAAGATATTTTCCTTGTTCAACATTTCACTGGTGCAGAAATATGACCTAGAGTTTATTGTCTAAATCACCTCTGAATGGATTTCAAAGGTCAGGGTTTTGTTTTGTTTTGTTTTTGTTAAAAAAAAAATCCAAATTGTTTCTAAAACGTGGCTACTAAAATTGGATCCTAATGTCCTATTAATAGAAAACAACATCAGAGTAACAATCAACACTGGCACAATGCCTTGAGCCTACAAAGCTCTTTCCATCCACTCCATCCCATTTATTCTGCACAACCGCCCTATGGGGGACAGAGTATCACGATCTCTACTTTTATAGAGGCGCAGCTAAGCCTAAATGTCTGCGATCTCAGGGCTGATAAATAGCTGAACTATTCTCTCTCCAAGTTTAGTAGTTCTTCCCCAAGTTTAGTAGTTCTTCCCCTACTCCATAGTTCCCTTCTGAAATTCTACTAGCAAGTGTAATGATCTGTTAATTCCTTAGAACACTCTCTGCTGGCTAGTCAAAAAAGAGAATCATCCTCTCTCAACTCCAACAGGAAATCAAAGAACCTGTGGCCAAACCCATGAAGGAGACCCCAGTTGTGGGTACCTTTAGATTCAGAAAGTCCTCACCTTGAGAACCTTGAGGTAGGGCAGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATACACTGGATGTGGGGCTGGGCATCACTGTAAACCTTGCAGACAAACTCTACGTCTCCTCCGACCACTGTGGAGGCATTTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGAGGCGATCGCTCTGGTGGAGAGAGGGAAGAAAGGAGGAGTGGGGATGGGAGAATGAGAGACCAATAAATAAGCTGTGTTGTCCAGAGGGCTGTCAGTGACCTCATGCCAGAAAAGCCTCAAGCCTGCTGGCTGACACCTTTGAAATAACACTGTGGCCCCATGAATAACAGAAACGACTTCAAAGGAGACTGCCGGAGCGCGACCCTTGTAAAAAGAACACTTACTTAGAAAATTGAGAAAAGAACTTATTACATCCCAGGTTATTGGCTGTCCACTGCCACCTGATGAATACGGGAAGAAATTCTACTCTGACAATCTAAGTGACAAATGGTAGGGGAGGGAAGCTTCTTCACTTATCCTATTTGAGATAATCTCAAAAACTCACCTCAACCACAAGCTTAACATCACAGGCAAATGACAAGACTAACTTTAAAGACACTCTGAATACCAAAAATGGTTTCAATAGGCACATGTCTCCCAATACATTTTTTTTTCTTTTCTCAGACGGGGTCTCACTTCATTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCAGCCTCCCAGGCTCAGGTGATTCTCCAACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCAACCGCCACCACGCCCAGCTGACTTTCAAATGTTTTATAGAAAGAGGATTTCATCATGTTGCCTGGGCTGGTCTCAAACTCCTATGCTCAAGCGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGACGTGAGCCACCACGCTCGGCTCCAGTACATTTCTAAGATGCTCTGAGAAGACTTCCAACCTTTGTTTTAAAAATTAAACTAAAGCCTAAAGCCCAAAGTTATGAACAGATTTGATTAATAATGGGATTCACCTCTTTATTGTGGAATTCACTCCATTCATTCATTCTTTATTCACCCATTTAGCTCTTTGATGAATATCAGGTGTTACTCTATGCCAGTTACTAAATGCACAAGTAGATGTTTCTTAGCTTATTCCAATATGGCACTGAATGAAACATAAGGAGATGCTGGTTTCCAACTCCTGGCTATGTTTTAGACTGCCCTATAAAAGGGCAGAGATGGTATCCCAAAATTACTTCCTAGCTTCACTTGTCTTGCCTCTCTCTCCTTCGAGAACACGTTCTCAACAAAGAATACACCCTCTCATCTTATGCCTGGAAAGGCTTCTCTCCAGCTAAGAGGCGGTCTCTGCAAAACTTTTGTGGAGACAATCAAGCCAAGGTGTGCTAGCAACCACACATGAGACTCCTCAAGTGTTAAGTAATACCCATGGAAAAATGGGCTAAGGACTTAACTATGCATTTCTCCAAGACACAAATGGCCACTAGGTGTATGAAAAGTTTCTCAATGTCACTAATCATTAGAGAAATGCAAATCAGACGAGATCGGGCGCGTTCCAAATCAAAACCACAAGGAGCTATCACATGACACCTGTCAGGATGGGAAGAAAAAAAAAAAAAGACAAGTGTCGGCAAGGATGTGGAGACACTGGAACCCCTGCGCACTGTTGGTGGGAATATAAAATGATGCAGCCACCATGGAAAACAATATGGAGGTTCCTCAAAAAATTAAAAACAGAACTACCCTAAGATCCTGCAATCCCACTTCTCTATTTATCTAAAAGAACTGCAATCAGGATCTGCACTCCTATATTAATTGCAGCACCATTAACAATAGCCAAGAAATGGAATCAATCTAAGTGTCTGCCAAAGGATTAATTTTTACAATGTGGCTATATACACAACGGAATACTATTCAGCCATGAAGAAGGAGGAAATGGTGCAATATGTGACAACGTGGAAGCCATGATGCTAAGTGAAACAGGATAGTCACAGAAAGACAGACACTGCCTGACTCCACTGATATGAGGTATCTAAATTCATCGCATTCATAA
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Subsets and Splits
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