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_18800
|
Given this context: Chromosome 12, gene OAS1 (2'-5'-oligoadenylate synthetase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; not provided
|
GCTTAAAGTTCATGTTACTCTCATCTTTGTCCCAACATGAGATCTCATCAAACGTATGCAGCACGTTGGGAGATAGATATTTATAATTTGCAGGAACATTTGGACAGGAAGTGTAACCTCTCAGAGGCTCCCTTGCCACATCAGGAGAATTGGTAAAACCACACTACCTGTATCATATCATTATTTTAAGTGATAAATGATCATCTACATTCAGCTCTGATGAGTAATAGGTGTTCAAAAATAGGAACTTCCAGCCAAGTGTGGTGGCTCATGCTTGTAATTCCAACACTTTTGGAGGCTGAGGCAGGAGGGTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAGCAAAGTGAAACCTCATCTCTACTAAAAATTTTAAAACATTAGCCAAGTGTGGTGGTACATGCCTGTGGTCGCAGTTATTCAGGACGCTGAGACTGAACGATCACATGAGGCCAGCCAAGGATTCGAGGTGTCAGTGAGCCACGAATGTACCACTGCACTCCATCCTAGGCACAGAGCAAGAGCAAGACCCTGTCTCAATCAATCAGTCAATCAGTCAAAACTATGAATTTCCCAGCTGTATATGAAGGCACCTCAAAACACCACAGTGAACTCACAGAGGGACACGGAATAGTTTAGATTTTAATTTTTTGAGGGAAATGCGATGACATCTGTCACACACCGCACAAACGGCTACTATTAAACTGAACTTACTGATTAGTGGCTACTAATTAATAGTTGGTCATTAAGCAGTAATTAGTGATTAATTATCAAGTAATTAGGACTTAATTAAAGGAACTGTCACAGTTTCCTTTAGTCCTAGGGCAGCCATGAAAAAAAAAATGCTGACTCTCCAAAGACACCAGGGTATGAGAAAGTTTTGGATTCTCTCCTTTGTGCCATCTCCTGTGTTGGGGGCTGAAGTACAATGGTTGTAAAAGACAAGAGGGAGAAGGCTGGTCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAAGTGGGGGGATCACTTGAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAATCTCACATCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCACAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAATGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCGAAAAAAAGAAAAAAGAAAAGAATATAAGGAGTGATTAAAAAAGAAAAGAAAAGAAAACTAAGTAGGGTGAAACAATAGATAGCCATGGGGGTTAGGGAGCTTTTTTAGACAGGGTCGTGAGGGAGGGTCCCTGAGCCTGAGTGGCGAGAAGGAGTGAGCCTTGGGGAGATCTGGAGGTTCTGGGAAGAGGAATGGCAAGTGCAGAGGCCCTGAAGCAGCAATGACCATGGCACATTTGAGGAAGAGAGAAAAAGTCAGAGAAGTAGAAAGTGGGCAAAGGAAGCAAGACAGGAGGTGAGGTGGGAGAGGTTCCAGAGACCAGATCACACCAGACATCATTGGCCACCATAAGATCTTTGGGTTTTAAAATTCCAGATGTTATGGGATGCAGGAAGCAGCATGATCAGCAGCATTCTCTAGGTGCCAGGTTGAGAACAGGCTGTGGGGGAACCTGTAAAGAGGTTGCTGCCATAGTTCCGGCGAGTGACGGTGGTGGCTTGGATGGGGTGATGGCAGTGGAGAGGGCAGGAGGGAGGATCAGGAATGGACCTCAAGACTTCCCAGCCCTGGGTCTGCTGCACTTTTCAATCAAACCCCATGGCCAGGGAGATTGTCCCCTCAGAGTGACTGAAGGAAATTCAGAGAAGAGCTGACACCTAAGTTGTAGATTTTGCCCGAACAGGTCAGTTGACTGGCGGCTATAAACCTAACCCCCAAATCTATGTCAAGCTCATCGAGGAGTGCACCGACCTGCAGAAAGAGGGCGAGTTCTCCACCTGCTTCACAGAACTACAGAGAGACTTCCTGAAGCAGCGCCCCACCAAGCTCAAGAGCCTCATCCGCCTAGTCAAGCACTGGTACCAAAATGTATGGCCCTCCCACCAGGCCTGGTGGGTCCTGTCTCGACTGGGAGCAGAGGAGGGGTGGGGGGAGGAGAGAAAGAAGGGAGTGAAGGGAAGAGGAGGGGGAGTGGTGGAGGGAAATAGAGGGATGGAAAAAGGAGAGAAAGGAAAAAGAGGTGGAGAGAGGAGCCTGCAACAGAAGGGAGAATGAAAGGGAAGGAAGAGAGAAAGGAAGGGATTTTGGTGTTCTGTTCACTGCTGTATCCCCAGAACTTAAAACAGAGCCTGGTGCATAATAGGTGTAAATAACTGTTGAATAAATGAATCAATGCTACATACACACACGCACGCACACACACACAGAGAGAGAGTCAACCACACTCTTCAGAAGGTGGATAAGTTAAAACAAGAGTTTCAAACAAATATATGTTCAGATGCCCTTTCCTCCCACTTACTGGCTGGCTGGCCTTAAGTAAGCAACTTAACCTTTCTGTTCTTTCTGCTTTCTTATCTGCAACGAGTAGCATGCCATAGCTAGAGTAACACGGCATATAGTTGGTCCTGATAAATGTAGCATATTTTAGCCACCATAGGAGTACACATAATAAAAGCTAACATGTAGTATGTGCTTAGCTTATCTATGTTTTGTGGATGTGATACAATTTTCTGTTCACTTTTAAATGCCCTGCATCTTAGTCAATTTTAACAGTGATTCTGTAAGTTAGATAAGGTTAGGCATTATTATTAAATCCATTTTACACCAAGAGAAACTTGGGTCAAAAAGAGAAACTCCTGGGTCACATGGCTCATTCGGCCAATAAGTAGCAGAAGTAAAATTTGAATTTGGCTGGGCGCGGTAGCTCACACCAGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTAGATTGCTTGAGCCCAGGAGTTCAAGACTAGCCTGAGCAACATGGCAAAACCTCGTCTCTACAAAATAAACTAAAAATTTAGCCAGGTGTGATGGTGAGCACCTGTAGCCCCAGCTACTGGGTAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGAGGAGGTTGCAGTAAGTCAGGATTGCACTACTGCCCTCCAGCCTGTGAGACAGAGCAAGATCTTCTCTCAAACAAACAAACAAACAAACAAACAAAAACTCGAATTTGGGTCTATTGACTTAAGAGTTTGCCTGATAATAATAGGCATTCAATGTATATTTCTTGAATGAACGAATGAATGAAAATAATCAGGAATAAACTTTCCAATTTAAAAGTAACACCTCTAGGTAAAAAAAAGACAATCATTTAGTTGCCAGACTTCTAAGTGTTTGCTGTTCTATGAATTGTAATCATGGAGCCTGAGCATTGTAGAATTTACAAAAGCAGTTCCTGACAAAAGCAGCACTGCCCCCAGGGACATATTGAAAATTAATGAGGGTGTTTTTGGTAACCATGGTGATGGGAGGACATGGGTGCTACTTATATTTAGTGGAAAGAAGACAAGAATGCTAGTTATTGTACAATGATCAAGAGAGTCCTGCACAGCCAAGAATTGTCTTTTTCTTTCTTTCTTGATGCTGTTCTCCTTTAAAACAAGACAAGATTAACAATAATTTAACTCCACTAACCACCATCATCACCACCTCCAACTTATATGCTACATTTCTTGTATATTTCAAGTCTGTTTATATTTTCAAGTGCCTCGAAGTATTATTGTTTTATAGCCAAATGTTTAGTTAATCTGCTCACAGATTTACCACTTTCTTCACTATTCATTCTGTCTTACACCTCTAACATTCCATCTGGGGTAATTTTCCTAAATGATCATGCATCCTTTGGGATTTCTTTTGATGATGGTCTATTGGTAGTAAACTCTCTCAGTTATTGTTTGTCTGAAAATGTCATGCTTTTGCCTTCATTGTTGAAGGGTGCTTTTGCTGGGTGGTCATTTCAGTATATTGAATATATCATTCCATCTTCCAGTGTCATCATTAAAAAGTCAGTTGCCA
|
GCTTAAAGTTCATGTTACTCTCATCTTTGTCCCAACATGAGATCTCATCAAACGTATGCAGCACGTTGGGAGATAGATATTTATAATTTGCAGGAACATTTGGACAGGAAGTGTAACCTCTCAGAGGCTCCCTTGCCACATCAGGAGAATTGGTAAAACCACACTACCTGTATCATATCATTATTTTAAGTGATAAATGATCATCTACATTCAGCTCTGATGAGTAATAGGTGTTCAAAAATAGGAACTTCCAGCCAAGTGTGGTGGCTCATGCTTGTAATTCCAACACTTTTGGAGGCTGAGGCAGGAGGGTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAGCAAAGTGAAACCTCATCTCTACTAAAAATTTTAAAACATTAGCCAAGTGTGGTGGTACATGCCTGTGGTCGCAGTTATTCAGGACGCTGAGACTGAACGATCACATGAGGCCAGCCAAGGATTCGAGGTGTCAGTGAGCCACGAATGTACCACTGCACTCCATCCTAGGCACAGAGCAAGAGCAAGACCCTGTCTCAATCAATCAGTCAATCAGTCAAAACTATGAATTTCCCAGCTGTATATGAAGGCACCTCAAAACACCACAGTGAACTCACAGAGGGACACGGAATAGTTTAGATTTTAATTTTTTGAGGGAAATGCGATGACATCTGTCACACACCGCACAAACGGCTACTATTAAACTGAACTTACTGATTAGTGGCTACTAATTAATAGTTGGTCATTAAGCAGTAATTAGTGATTAATTATCAAGTAATTAGGACTTAATTAAAGGAACTGTCACAGTTTCCTTTAGTCCTAGGGCAGCCATGAAAAAAAAAATGCTGACTCTCCAAAGACACCAGGGTATGAGAAAGTTTTGGATTCTCTCCTTTGTGCCATCTCCTGTGTTGGGGGCTGAAGTACAATGGTTGTAAAAGACAAGAGGGAGAAGGCTGGTCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAAGTGGGGGGATCACTTGAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAATCTCACATCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCACAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAATGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCGAAAAAAAGAAAAAAGAAAAGAATATAAGGAGTGATTAAAAAAGAAAAGAAAAGAAAACTAAGTAGGGTGAAACAATAGATAGCCATGGGGGTTAGGGAGCTTTTTTAGACAGGGTCGTGAGGGAGGGTCCCTGAGCCTGAGTGGCGAGAAGGAGTGAGCCTTGGGGAGATCTGGAGGTTCTGGGAAGAGGAATGGCAAGTGCAGAGGCCCTGAAGCAGCAATGACCATGGCACATTTGAGGAAGAGAGAAAAAGTCAGAGAAGTAGAAAGTGGGCAAAGGAAGCAAGACAGGAGGTGAGGTGGGAGAGGTTCCAGAGACCAGATCACACCAGACATCATTGGCCACCATAAGATCTTTGGGTTTTAAAATTCCAGATGTTATGGGATGCAGGAAGCAGCATGATCAGCAGCATTCTCTAGGTGCCAGGTTGAGAACAGGCTGTGGGGGAACCTGTAAAGAGGTTGCTGCCATAGTTCCGGCGAGTGACGGTGGTGGCTTGGATGGGGTGATGGCAGTGGAGAGGGCAGGAGGGAGGATCAGGAATGGACCTCAAGACTTCCCAGCCCTGGGTCTGCTGCACTTTTCAATCAAACCCCATGGCCAGGGAGATTGTCCCCTCAGAGTGACTGAAGGAAATTCAGAGAAGAGCTGACACCTAAGTTGTAGATTTTGCCCGAACAGGTCAGTTGACTGGCGGCTATAAACCTAACCCCCAAATCTATGTCAAGCTCATCGAGGAGTGCACCGACCTGCAGAAAGAGGGCGAGTTCTCCACCTGCTTCACAGAACTACAGAGAGACTTCGTGAAGCAGCGCCCCACCAAGCTCAAGAGCCTCATCCGCCTAGTCAAGCACTGGTACCAAAATGTATGGCCCTCCCACCAGGCCTGGTGGGTCCTGTCTCGACTGGGAGCAGAGGAGGGGTGGGGGGAGGAGAGAAAGAAGGGAGTGAAGGGAAGAGGAGGGGGAGTGGTGGAGGGAAATAGAGGGATGGAAAAAGGAGAGAAAGGAAAAAGAGGTGGAGAGAGGAGCCTGCAACAGAAGGGAGAATGAAAGGGAAGGAAGAGAGAAAGGAAGGGATTTTGGTGTTCTGTTCACTGCTGTATCCCCAGAACTTAAAACAGAGCCTGGTGCATAATAGGTGTAAATAACTGTTGAATAAATGAATCAATGCTACATACACACACGCACGCACACACACACAGAGAGAGAGTCAACCACACTCTTCAGAAGGTGGATAAGTTAAAACAAGAGTTTCAAACAAATATATGTTCAGATGCCCTTTCCTCCCACTTACTGGCTGGCTGGCCTTAAGTAAGCAACTTAACCTTTCTGTTCTTTCTGCTTTCTTATCTGCAACGAGTAGCATGCCATAGCTAGAGTAACACGGCATATAGTTGGTCCTGATAAATGTAGCATATTTTAGCCACCATAGGAGTACACATAATAAAAGCTAACATGTAGTATGTGCTTAGCTTATCTATGTTTTGTGGATGTGATACAATTTTCTGTTCACTTTTAAATGCCCTGCATCTTAGTCAATTTTAACAGTGATTCTGTAAGTTAGATAAGGTTAGGCATTATTATTAAATCCATTTTACACCAAGAGAAACTTGGGTCAAAAAGAGAAACTCCTGGGTCACATGGCTCATTCGGCCAATAAGTAGCAGAAGTAAAATTTGAATTTGGCTGGGCGCGGTAGCTCACACCAGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTAGATTGCTTGAGCCCAGGAGTTCAAGACTAGCCTGAGCAACATGGCAAAACCTCGTCTCTACAAAATAAACTAAAAATTTAGCCAGGTGTGATGGTGAGCACCTGTAGCCCCAGCTACTGGGTAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGAGGAGGTTGCAGTAAGTCAGGATTGCACTACTGCCCTCCAGCCTGTGAGACAGAGCAAGATCTTCTCTCAAACAAACAAACAAACAAACAAACAAAAACTCGAATTTGGGTCTATTGACTTAAGAGTTTGCCTGATAATAATAGGCATTCAATGTATATTTCTTGAATGAACGAATGAATGAAAATAATCAGGAATAAACTTTCCAATTTAAAAGTAACACCTCTAGGTAAAAAAAAGACAATCATTTAGTTGCCAGACTTCTAAGTGTTTGCTGTTCTATGAATTGTAATCATGGAGCCTGAGCATTGTAGAATTTACAAAAGCAGTTCCTGACAAAAGCAGCACTGCCCCCAGGGACATATTGAAAATTAATGAGGGTGTTTTTGGTAACCATGGTGATGGGAGGACATGGGTGCTACTTATATTTAGTGGAAAGAAGACAAGAATGCTAGTTATTGTACAATGATCAAGAGAGTCCTGCACAGCCAAGAATTGTCTTTTTCTTTCTTTCTTGATGCTGTTCTCCTTTAAAACAAGACAAGATTAACAATAATTTAACTCCACTAACCACCATCATCACCACCTCCAACTTATATGCTACATTTCTTGTATATTTCAAGTCTGTTTATATTTTCAAGTGCCTCGAAGTATTATTGTTTTATAGCCAAATGTTTAGTTAATCTGCTCACAGATTTACCACTTTCTTCACTATTCATTCTGTCTTACACCTCTAACATTCCATCTGGGGTAATTTTCCTAAATGATCATGCATCCTTTGGGATTTCTTTTGATGATGGTCTATTGGTAGTAAACTCTCTCAGTTATTGTTTGTCTGAAAATGTCATGCTTTTGCCTTCATTGTTGAAGGGTGCTTTTGCTGGGTGGTCATTTCAGTATATTGAATATATCATTCCATCTTCCAGTGTCATCATTAAAAAGTCAGTTGCCA
|
Task1_train_18801
|
A variant found in Chromosome 12 affects TBX5 (T-box transcription factor 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Holt-Oram syndrome
|
ACTGGGCACTGGATTCACAAAGGCTTGTGTTGACCACTGAGGCTGTGAGGTTCAACAGGCCACTTTGTAGATTAAAATTAGTGTCTTTTAGAGCAAAACAGCTACTACTTTCTGAGTCAACCCTGAGATAACATATGATGTGTATGATTTTTTGACATCTCTGCACCAAGCCTATGAGACAAGTCGTACCCTGAGCCCATATTTACAGATTTTTAAAAATGAGGCTTGGAAAGGTTAAGCAACTTGTCACTACTTATGAAAATTTTTAAATTGCAAAGGTGAACTTCATCCTGATTGATTCTACAGACCACAGATGTAAACTTTAGCCTACCCCATCCCTTCTGTATCTGTCTTCTCAAGCTCTCACCTAGAGAGGCAGTCTTCTCTGGGAAGACTGATTAAATTAATGCCAGTCCAAAGACAAGAGGCAGATTCCTCCTGGGAATCACCTTCTGGAGCGATATCTGCCACATACCCAATCATGGCTGCCACCTACTGCGTACTTGCTAACTATCAGATGCTTTAGGAAACATATCATTTACAAAGTGAGAAACTGAGGCTAGGAGAGGCTAGAACACCTGAGTGAGGTCACACAAGAAGCAGGGAGCAGAGATGAGATTCAAACCCGCATCTCTCTGTCCCCAAAGGCTGCAGTCTCCCCACCATACCATCTACAGCTCACACCAAGCAATGGTTCTATCGAGCTGAACTCCACCACACCACCTGTGCCAAACACTTCTATTCTGGCTCACAAGAAGGGCCACCAGAAAATTCTTTCTTTAGCTTAGCCCCTTTGGACTTGGATGACTTAGAAAAAAAAAAAAGCCATTTATTTCTCATGTGGCAAAGAAAACTGCGGAATGCCTCAGCTTAGTAGATTTAAATGGGGGATGAGACGGGGAAAATCATTTGTGATGTGTGTGTGTGTGTGTGTGTGTGTGTTGGTTTTGATCAGGAAAAAAAAAAAAAGAGTTCAAAATCCACCTGGGAGAAACACTGACACATATGCCAGAGAAGCATTGATAGTCACAAGGGGTTTTCCTGCATCACGGCTTGTAATACCATCAGGGACCACTCAAGCAACCTCCCTGCCTACCAGAGGGAGTGACAAAATAAACTCCATTTTATCCTTTCCAGTCAATTCTTCCTCCTTAGCAGTTAAAAATAAAATAAGGCAGTCTAGGTTCATAAAAAGATACCCAAAACACATTCTAAAGTTTAAAAGAAAAAAAACAGCAAGTTGCAAAATACATACAGTGTGATTTCATCTATATTAAAAGTTTTTAAAAAAAATTTTGGGTGTGGTGGCTCAGGCATGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGGTCACTTGAGCCCAGGAGGTTTAGACAAGCCTGGGCAACACAGTGAGACCCTGTCTCTACAACAACAACAAAAATTTAGTACAGTGTGTGAACGCATGCCTATAGTCCCAGCTACTAGGGAGGCTGATGTGAAAGGATCACTTAAGCCCAGGTGGTTGAGGCTGCAGTGAGCCATGACTACACCACTGCACTCCAGCCTGGGTGATAGAGCAAGATCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAAGTAAAAATAAATCTAGTTCTTTCTCTGCACTCGCCACGTGTATGTGTGCATAAATGAATACAATAGGTCTGAACATTTCAAATAAGCTTTCTCCAAAGGAGGGGCTGGAACTGGGGGTAGGAACATGTCAAGGGAACTTTTTGTTTTAGCTGTTTGGTTTAAATTTCTTATCTCCATATATTTTTGTGTTGTTTACATTTTTAAATAAATAAAGTAAATAAATGAATACTCCTCACCCCCTCACCCCCAACCCAAGGAAAGGAAAAGGTAAGAAAGAAAGCAAATTGACCAGGGGTGATCACACTCACCTTTCCTCTTGGTACAATGGTAAATTTGGCTATGCTCCTGGGGCAGTGGGTATGGGTTGGGTGGAGGCAGGAGGTCCTGGGAGGGGCCGGAAACACCATTCTCACACTGGTATTGGGACCCCAAATTGGATGAGGTGGAGAGAGCTCGAGACTCGCTGCTGAAAGGACTGTGGTTGGAGGCCACTTTTTGCCTCACGGTGCTCCTGGGGACCACGGGATATTCTTTACTGAAAGAGAAAAGATGGGAGATAACGCCTATCAGTGCCCTGATACAGATTTCCTGAGTGGCTGAACCAGGTGTGAGAGAATCCACCAGAAAAGTCACAGAATAAGGAAAAAAAAGAGGTCTTTGATGAATAAAATGATCCAGTTATATTCATGTCCATCATATTTCACAAATGTATATTTGGGTACTAATTTTTCATGCCTTATACATTAGGCAAGTAGATTTACCAACAGTTCTATACCTCAGCAGAAAAGTAAATAAACACCCCCAGTTAAGAACCCCTTTTAACAATCAATAAACACACATGGTATTTTGAAATATGTCAATTTAGTCTATGTATGTCTTTAAATTCCCTAATTTGAAAGCTAGTTAATCTGAGTATTTATTTAGACTTAACCTGTGGGTGTCCATCTTTAAGGTGGGGCTCAGGTCATTGCCCAAAGTTAGTAAAAACTGGTAGCTGACAACCTAGGAAGGTCAGGTATAATCCTAAGTTACTCTCATCTGGATAGATTGCTGCTAGTGTCAGAATTTCCTCCTGAGCTTCTGTCCTTGTGGCCACTGATATACTTAACTTCTCCATACCTTAGTTTTCCCATCTGTAAAGTAGGGATAATGAATGTCCCCAGTTCAAAGGGCTGTTGATAGAAGAAACGGGTTAATGAGTTAACCATGAAAAGACTCAGAAAGGTACATGGCACAGAGTAAATGCTCAACAAATGGCAACCATCGTCATTACTGTTATTGTTTTGGGCAGAGAGAATAGAGGGAGGGAAAAAAGAGAGGGAAAGAAAATGAGAAAGAAGGAGGAACAAGGACATAGAAGATTTAAAAAGAAAGAAAGAAAAAAGAAACAAAAAAGGAAAGAAAGAAAAGAAAAGAAAAAATCAGCATGGGATCTAAGATTACGCAGCTCCCAATTCAGGCCCCATCCCTATCCCTTACAGGCTGTGTGTCCATCTGACACACAACCCTCCCCTGAGCTTCAGGGCTCACACAGGCAAAGTAAGCATAATAAAAATTCCATGACATCATAGGTATAGCATCCCTCAGTGTGCTCAAAATCTGGCCCCTCACACTCTTAGGACTGGTCCTCCACATTCCCTTACCTTCAGATTTCATACCAGGTGTTCCCATTTTTTTTCCTCAGAAGGACTCAGTAGAAACCTCTCCTGGGAAGAAGGAAAGTCGTGCTGTGCAGCAGCAGGAGGCTCAAAGGAAATGAGAGAGGTGGGGAATGGATGGGATGTGGAAGGTTGCAGAGGAGTAGAGAGAAGGTGGGGGTGGGGGTGCTTCAAGATAGAAGGGACAAAGAGAGAAATATCCAAGTATGTGAGAGAAGAAGAGCTTGACCCCTAACATCCCATATCCAGCATTTAGGATGGGGATAGGGAATCTTGGGCATGGCATTTACAAACTGCATATATTGCTAAACAGCCATTTAAAACATATTTTGGTAACTATATTTCAAATATAATTGGCTTCTCTTGTAACCTATGTATTCTATTTCATGCATTTAATCATATTATTCTTAGAGATGATTCATAGGCTTCAACACACTGCCAGAGAGGCCCATGGCATCAAACAGTTTAAGAACCCCTATCCTAGAAGGAGCATGTGTCAGTAAATCCCAAACTTCAGTCAGACACAATTTTCACCATGACATACAGCCATCTATTCTTTAACTTATGACATTTTAAAAATTAATCATTTATCTAAATAAGTTAAGCTTCACTATAAGTGATCATATCTGTGAAATTACAGGCTTGTGGTGCTAATTATAGTTATTTTAATGCAATTAAGACGAATGTTTATGTGCCTATGGTCATAGCAACTCAGGAGGCTGAGGCAAGAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGACTGCACCATTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAATCAATCAATCAAT
|
ACTGGGCACTGGATTCACAAAGGCTTGTGTTGACCACTGAGGCTGTGAGGTTCAACAGGCCACTTTGTAGATTAAAATTAGTGTCTTTTAGAGCAAAACAGCTACTACTTTCTGAGTCAACCCTGAGATAACATATGATGTGTATGATTTTTTGACATCTCTGCACCAAGCCTATGAGACAAGTCGTACCCTGAGCCCATATTTACAGATTTTTAAAAATGAGGCTTGGAAAGGTTAAGCAACTTGTCACTACTTATGAAAATTTTTAAATTGCAAAGGTGAACTTCATCCTGATTGATTCTACAGACCACAGATGTAAACTTTAGCCTACCCCATCCCTTCTGTATCTGTCTTCTCAAGCTCTCACCTAGAGAGGCAGTCTTCTCTGGGAAGACTGATTAAATTAATGCCAGTCCAAAGACAAGAGGCAGATTCCTCCTGGGAATCACCTTCTGGAGCGATATCTGCCACATACCCAATCATGGCTGCCACCTACTGCGTACTTGCTAACTATCAGATGCTTTAGGAAACATATCATTTACAAAGTGAGAAACTGAGGCTAGGAGAGGCTAGAACACCTGAGTGAGGTCACACAAGAAGCAGGGAGCAGAGATGAGATTCAAACCCGCATCTCTCTGTCCCCAAAGGCTGCAGTCTCCCCACCATACCATCTACAGCTCACACCAAGCAATGGTTCTATCGAGCTGAACTCCACCACACCACCTGTGCCAAACACTTCTATTCTGGCTCACAAGAAGGGCCACCAGAAAATTCTTTCTTTAGCTTAGCCCCTTTGGACTTGGATGACTTAGAAAAAAAAAAAAGCCATTTATTTCTCATGTGGCAAAGAAAACTGCGGAATGCCTCAGCTTAGTAGATTTAAATGGGGGATGAGACGGGGAAAATCATTTGTGATGTGTGTGTGTGTGTGTGTGTGTGTGTTGGTTTTGATCAGGAAAAAAAAAAAAAGAGTTCAAAATCCACCTGGGAGAAACACTGACACATATGCCAGAGAAGCATTGATAGTCACAAGGGGTTTTCCTGCATCACGGCTTGTAATACCATCAGGGACCACTCAAGCAACCTCCCTGCCTACCAGAGGGAGTGACAAAATAAACTCCATTTTATCCTTTCCAGTCAATTCTTCCTCCTTAGCAGTTAAAAATAAAATAAGGCAGTCTAGGTTCATAAAAAGATACCCAAAACACATTCTAAAGTTTAAAAGAAAAAAAACAGCAAGTTGCAAAATACATACAGTGTGATTTCATCTATATTAAAAGTTTTTAAAAAAAATTTTGGGTGTGGTGGCTCAGGCATGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGGTCACTTGAGCCCAGGAGGTTTAGACAAGCCTGGGCAACACAGTGAGACCCTGTCTCTACAACAACAACAAAAATTTAGTACAGTGTGTGAACGCATGCCTATAGTCCCAGCTACTAGGGAGGCTGATGTGAAAGGATCACTTAAGCCCAGGTGGTTGAGGCTGCAGTGAGCCATGACTACACCACTGCACTCCAGCCTGGGTGATAGAGCAAGATCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAAGTAAAAATAAATCTAGTTCTTTCTCTGCACTCGCCACGTGTATGTGTGCATAAATGAATACAATAGGTCTGAACATTTCAAATAAGCTTTCTCCAAAGGAGGGGCTGGAACTGGGGGTAGGAACATGTCAAGGGAACTTTTTGTTTTAGCTGTTTGGTTTAAATTTCTTATCTCCATATATTTTTGTGTTGTTTACATTTTTAAATAAATAAAGTAAATAAATGAATACTCCTCACCCCCTCACCCCCAACCCAAGGAAAGGAAAAGGTAAGAAAGAAAGCAAATTGACCAGGGGTGATCACACTCACCTTTCCTCTTGGTACAATGGTAAATTTGGCTATGCTCCTGGGGCAGTGGGTATGGGTTGGGTGGAGGCAGGAGGTCCTGGGAGGGGCCGGAAACACCATTCTCACACTGGTATTGGGACCCCAAATTGGATGAGGTGAAGAGAGCTCGAGACTCGCTGCTGAAAGGACTGTGGTTGGAGGCCACTTTTTGCCTCACGGTGCTCCTGGGGACCACGGGATATTCTTTACTGAAAGAGAAAAGATGGGAGATAACGCCTATCAGTGCCCTGATACAGATTTCCTGAGTGGCTGAACCAGGTGTGAGAGAATCCACCAGAAAAGTCACAGAATAAGGAAAAAAAAGAGGTCTTTGATGAATAAAATGATCCAGTTATATTCATGTCCATCATATTTCACAAATGTATATTTGGGTACTAATTTTTCATGCCTTATACATTAGGCAAGTAGATTTACCAACAGTTCTATACCTCAGCAGAAAAGTAAATAAACACCCCCAGTTAAGAACCCCTTTTAACAATCAATAAACACACATGGTATTTTGAAATATGTCAATTTAGTCTATGTATGTCTTTAAATTCCCTAATTTGAAAGCTAGTTAATCTGAGTATTTATTTAGACTTAACCTGTGGGTGTCCATCTTTAAGGTGGGGCTCAGGTCATTGCCCAAAGTTAGTAAAAACTGGTAGCTGACAACCTAGGAAGGTCAGGTATAATCCTAAGTTACTCTCATCTGGATAGATTGCTGCTAGTGTCAGAATTTCCTCCTGAGCTTCTGTCCTTGTGGCCACTGATATACTTAACTTCTCCATACCTTAGTTTTCCCATCTGTAAAGTAGGGATAATGAATGTCCCCAGTTCAAAGGGCTGTTGATAGAAGAAACGGGTTAATGAGTTAACCATGAAAAGACTCAGAAAGGTACATGGCACAGAGTAAATGCTCAACAAATGGCAACCATCGTCATTACTGTTATTGTTTTGGGCAGAGAGAATAGAGGGAGGGAAAAAAGAGAGGGAAAGAAAATGAGAAAGAAGGAGGAACAAGGACATAGAAGATTTAAAAAGAAAGAAAGAAAAAAGAAACAAAAAAGGAAAGAAAGAAAAGAAAAGAAAAAATCAGCATGGGATCTAAGATTACGCAGCTCCCAATTCAGGCCCCATCCCTATCCCTTACAGGCTGTGTGTCCATCTGACACACAACCCTCCCCTGAGCTTCAGGGCTCACACAGGCAAAGTAAGCATAATAAAAATTCCATGACATCATAGGTATAGCATCCCTCAGTGTGCTCAAAATCTGGCCCCTCACACTCTTAGGACTGGTCCTCCACATTCCCTTACCTTCAGATTTCATACCAGGTGTTCCCATTTTTTTTCCTCAGAAGGACTCAGTAGAAACCTCTCCTGGGAAGAAGGAAAGTCGTGCTGTGCAGCAGCAGGAGGCTCAAAGGAAATGAGAGAGGTGGGGAATGGATGGGATGTGGAAGGTTGCAGAGGAGTAGAGAGAAGGTGGGGGTGGGGGTGCTTCAAGATAGAAGGGACAAAGAGAGAAATATCCAAGTATGTGAGAGAAGAAGAGCTTGACCCCTAACATCCCATATCCAGCATTTAGGATGGGGATAGGGAATCTTGGGCATGGCATTTACAAACTGCATATATTGCTAAACAGCCATTTAAAACATATTTTGGTAACTATATTTCAAATATAATTGGCTTCTCTTGTAACCTATGTATTCTATTTCATGCATTTAATCATATTATTCTTAGAGATGATTCATAGGCTTCAACACACTGCCAGAGAGGCCCATGGCATCAAACAGTTTAAGAACCCCTATCCTAGAAGGAGCATGTGTCAGTAAATCCCAAACTTCAGTCAGACACAATTTTCACCATGACATACAGCCATCTATTCTTTAACTTATGACATTTTAAAAATTAATCATTTATCTAAATAAGTTAAGCTTCACTATAAGTGATCATATCTGTGAAATTACAGGCTTGTGGTGCTAATTATAGTTATTTTAATGCAATTAAGACGAATGTTTATGTGCCTATGGTCATAGCAACTCAGGAGGCTGAGGCAAGAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGACTGCACCATTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAATCAATCAATCAAT
|
Task1_train_18802
|
Mutation context: Chromosome 12, Gene TBX5 (T-box transcription factor 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; not provided
|
ACAAACCTAGGGGGGTGGCCAGGCCAGATGGGAAGGTCATGGCTAACCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAA
|
ACAAACCTAGGGGGGTGGCCAGGCCAGATGGGAAGGTCATGGCTAACCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACTTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAA
|
Task1_train_18803
|
Given this context: Chromosome 12, gene TBX5 (T-box transcription factor 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; not provided
|
ACCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTA
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ACCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCGGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTA
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Task1_train_18804
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The gene TBX5 (T-box transcription factor 5) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Aortic valve disease 2
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CCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTAT
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CCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCAAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTAT
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Task1_train_18805
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With a mutation on Chromosome 12 in gene TBX5 (T-box transcription factor 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Cardiovascular phenotype
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CCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTAT
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CCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCAAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTAT
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Task1_train_18806
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Here is a variant affecting TBX5 (T-box transcription factor 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Holt-Oram syndrome
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CAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCA
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CAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAGGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCA
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Task1_train_18807
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This variant affects the gene TBX5 (T-box transcription factor 5) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Cardiovascular phenotype
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ACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCAGGT
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ACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGAATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCAGGT
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Task1_train_18808
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A variant has been detected on Chromosome 12 in TBX5 (T-box transcription factor 5). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Aortic valve disease 2
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ACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCAGGT
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ACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGAATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCAGGT
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Task1_train_18809
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This gene mutation involves TBX5 (T-box transcription factor 5) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Aortic valve disease 2
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GACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCAGGTACACATCATTATGTATTTGTCCA
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GACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCATGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCAGGTACACATCATTATGTATTTGTCCA
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Task1_train_18810
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Here is a variant affecting TBX5 (T-box transcription factor 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Holt-Oram syndrome
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GACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCGTGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCAGGTACACATCATTATGTATTTGTCCA
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GACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCCTTTGATTGCAGGTGGGAATGGGTGATCTCCCTTCAGCTCCCACCTGCACAGCAGGAACTTTGCCTGTAGGACTGAGAGGTGACTTTGTGTGGCAATGACTAAGCCACCTTAACGGCAAATCACCATCAGAATGGGATAGGAACAGAAAGTTGGCACTCTGAGCCCAGGGCCGTGAATTATTGAACCTCTTTCAGCTAAAACATGATATTTGTTGTCATCTTTTCCACTGACCCTATGGCCCAATCAATTTCAAAATGTAGATGCTTAAAACCAAAAATAAATTTTAAATAACAAACTCAGAACTTGCCTATTTTAGCCACAAAAAGTACCTTGTGAGTCCACAATCTTGAAGGAAACCAATTTATGAAAACAGGAATGTGTGCACAGATGTACCACACTCCTTGTTTTTTTAATGTTTGGAAACAGGGTCATTCTCTTGTTTTTTTTTTTTAATATTTGGAGACAGGGTCTTGCTATGTTGTCCCAACTGCAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAAATTCCTGGGTTCAAGAAATCCTCCTGCCTCGGCCTTCTGAGTAGCTGGGGCTGCAGGAACATGCCACCTGGGCTAGCATTATTTTTTAAAAAGCTTGCAAAATTTGACCTGATAAGCCCGCTATCTAAAAACAATTTTTCCATTGCATGTATTTCTAAACCTAATATTAAAACCACAGATTTAAGGTCTTTCTCCCTTTATGTTCTTAGGTCTCTTATCTTTCTTTGAATGAATATATCTGTCTATCTGCCTGACTCTCCCTTTTCACATCTTCCAGAAAGGATAAGGAAAACATCCAAAAGGATCTCATTTTATTTTGAAACACTAAACCCACCAAACAGAAAAAAAGAAAACACACACACACACACACACACACACACACAACACACACACACAAACCTTCTTGGTCAGAGGGATCAAGATGTATTTCTAATTCGCTTGCCATATGGTAAGTTATTTTGGAAGCACATCAAGAGGTAGAGAGAATGTTCCACAAAATTGGCAATGCTTGTACAATCCTTTCAAATCAGACCAAATTCCCACTATGTACATTTGCTACAGCCCGTTCTATTCATCATATCAGCAACTATGACCACAGGATATGTAAAAATACCGAGCAATTTTTAGCACCAGCTTCCAATCCTCCAGTGCCCTGGACACCACATGGTGTCAAGTTTGTCTGTATTTCACCCTCAGGAAATCAAGTCATTAACTTCTCTTTCATTTACCAAGAGCTGTTGCCAAAAAAAAAAAAAAGCATTCATCGGCTGTGACTTATGGGAAGAAAAAGAGAAAGGGTTTCCCTACAGGGAGAGAGACAGCAGAGAAAGAAGAGAAAGCTGTGCCTTTTGTTCCCTGGGAGAATGGAGAATGCCGAACTCTTCGTACCTTCTCTCCACTAGAAAATGTATTCTCCAGGTTGCCCAATGGCGCCAACCACATGTGAAGGTTATCAGAAAATGGGACAGAGGGGGCTCATTCTCCCCATTTCCATGTGCCTGGCATTCTACGGGCAGGAAGGCTGGTGGAGGGAGGTGCTGGGTTGCTGCTGGCTTACCTGGGTAATTTGAGGGGTATGTGGGGAGGAGAAAGTTGAGGAATCCACTTTCCTACCTTTGCATTCTTGACATTCTGTGCAGCTCCATGTCATCACTGCCCCGAAATCCTTTGGCAAAGGGATTATTCTCAATCTTTAATTGCATGATCTGAAGGAAAGAGGAAGAGAGAACAAGCTGGTTTTCACTTGATTGCTGCAAGACCACCTCAGGACATGAGCTAATAATAAATATCATGGAAATGCAGCCTCTGGCAACCAAAAGAAGCAAATTAAGCCAGTCACGTCAACGGGACCCACCACTTCATTCAAGTGGAGGCTTTGAAAAATGTCCTCCATTGGACTGCTTTTAAAAGGGGAAAAACACCTGGGTTTGGTTTGCCCATTAATTGGAGTCATACTCTGCATCATTCCAGCTGGGTTCTTTTTTTTTTTTTTCCAATCTTGCATTTTGTGTTTTAAACACCATCTAGGCCTCAATACTCAGTACTCCCTCCCCTTTGGAAAGCTGTGCATGTTGACATGATCGTTGCACATCAGGCAGCGTAGTCATCTCCATTGGAAGGGTTGACCCCATCGTGTGTTTCTGCAGAAAACATGTCTTGATTATTGCATTCAAAAATTCTATTATGCCTCATTTCATGTTCATTTCATAGTTTTGCAGATAGCGTTTCCTAGTTCTGGTGGAAAATGGTGCCTAATGAAATAAACGCCAATATACATAATGATAACTTATATAATAGCTATTGAACAGCACCAAACCTCTTTAATGTCCTAAGCAAAGAAGAGAGGTTTCTCTCTTGGAAATCTGTGTTGCAACATACAAGGCATAGTTACAGAACAGGGTCTTTTTGCACGTTTTGGTTCCAGGCCCAGAACTTTAATTTAATCCATCAACGCATTATATTAGTGTGAATGTACAGTAGCAGACCCAGGTGACAGAAGGCAACCATACGGAGTTTGCCAGAAGTATTTCCTAAAAATTGCGTGTGAACTGAATTTTCATAGAGAACATAGAGAATCATGTTATAGACATGAGAGCAGCATGACTCAAACTTCAGTCATTCAAGGTTTTCTTTCACTATTATTGCCATATCTATACAGCACCTGTACACTGGCTTAATATTTTTATTTAAATCAAACCACTTTTAATTTGCACTTATTTCACACAAATATGATATCACTTCTTTGTATGACAAACTAGAATCACTTGCTACTCAATAAGAAGAAAATAAATATATGTAATTGTCTTTACTCATATCCAAAGCTTGCCTTCTCTTTGTTGCAAGTGGAAATTAGACACTTTTAGAGAACTAGTTAACACAAACCAGTACTGAACTGAGACTCCCTCTCTAATAGAAGACTAGAAAGATAATTTTAAAAAGAACAACTTTCAGCCAGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATAACTTGAGATCAGAAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACAAAAAATACAAAATTTAAAAAAAAAAATAGCCTGGCATGATGGCAGGCTCCTATAATCCCAGCTACTCCAGAGGCTAAGGCAGGTGAATCACTTGAACCCAGGCGGCAGAGATTGCAGTGAGCCGAGATCACACCACTGTACTCTAGCTTGGGCAACAGAGCAAAATTCCGTCTCAAAAAAAAAACAAAAAACAAAAAAACAAACAAACAAAAAACACTTTCTCTGTGATTTCATCATATTCAAGTATCCCTAAAAATCATCTCGAGTCTTTCCCAGTAGTATAGTTACAGATTTGAGAAACTGTGCTTGATAAATGAATGTACCCTCTAATTTCTTCATTTGAAGAGAGGAATTCTTATCTATTCTGCCTTCTGGAAGAGATGACCTATGAGGTTTACCTCTAACCCCAAAATTATTGAAAATAAAATTATTATATGTATGTGCACCTATGTGTATTCACCATAAAAAATATACATACAATTAATATTTTAAGATATATGATTCCAACTATACAACACTCTAGAAAAAGCAAAACTACGGAGTCAGTTAAAAGGTCAGTGGTGGCCACAGGTTGGAAAGAGGGAGGGATGAATAGGCAGAGCCCAGAGGATTTTTGGGTTTGTGAAACTACTCCCTATGATACTATAAAGGCAGGTACACATCATTATGTATTTGTCCA
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Task1_train_18811
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A variant has been detected on Chromosome 12 in TBX5 (T-box transcription factor 5). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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CGTCCCACTTCCCAGCGTCAAGGACCACGCAGGACCCCACCCAAGGGTCCCATCCTCCAGAAGGAGCCAGCCCAGAGATGCATGTGGAACCTTTAGAAATGGCTCCGGTTTTCCCTGGTGCTGGTAAGGCATCTGCTGGGGACTGGCAGATACACAGCCAGGGCGGGTCAGCCAATGCCTACACAAGCTGAATTTACAGAGCACCTCCTGGGAAGCCCAGCAAGAAGGACTCGTGGGCAAAACACCCGGGTTTAACAGAGTGGCTCTGCATTTGCCTGGGAATGCCTTCCGAGCGCTCCAAGCAGGCTGCACAGAGAGTGAATGATTCTTTTTCCTCTCCACCCACGTGCTGAGAGCTGCATTTACCCATCAGTGTGGACCCCTGAGATCCTCTTCCCATCCCAGATCCTGGGGACTTCAGTGCTTCAGCCCCAAGGCCTCAAAGGAGCAGATTTCTCGTTTGGACCTTCATAAACCATCCTCCCCCGCCCCCTTGACCAAATTCATTCCCTCCCAGTCCCCTCCTTTCCCTGAAATCGGCGACCATGCGCCTATCTGTTGCTCCTCTTTGAAGCTACAACCTTCCAGGACAGGGAACTCCTTTTGTAATTAGAGAGACCTAGCCGCAAATCTCTGCTCCCAAATACAAGCTGTAGGACCTTGACAAGTCACCCCCGTCCCCTGGACTCTCCTGTGCAAAAGCTATGCCTCCCGTCCGCCCCCTAGGCTGCCGTGAGAATCAAATGCCCAAGACGAATGTACCCACTTGTATGGCAGAATCATCCAGCTAAAAGTTCTAAACGTGAATACAGAATCCGTGTTCTGTTCTAGTAATTAATTATCTTCTACGATGAGATTTGGGGACATTTTTTCAAAAATCAGTGTTTTGTGTTTTGTTTTTCTTTGGGGAAGAGGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAAGCTAAAAAGTGGCACTGGCACCATAGTTCTCTTATGAGTTCATTTCCCATCTGGAAAAGAGGGGGCAGGTGAGCTGGGCTCTCCCTCTCCCCTGGAACATCCCAAAATTAAGGCAGGATTGAGAAGTGGGGAGGGAAGGTATATGGCTTTCATTGTGGTCCAGCCTCTGTGCAGTCTATACTGGGTATCCACTGGGCTAGGAGGTCCATATTTTCTGCAAGACTGAAACACAGCCCTCCACTCCTAACCACAGATCGAATTCACAGACTCTCCAGGCCTGGAATGAGCAGCTTCAATCATTCCTCCATCCCTAGGCAAAGGGAGAGGGTTTGGGCCCTAACGGCAAGGATGCAGCCCCAGACCAGGTGAGCCGGGGGCCATATCTCCAGCCACCAAGGAACGACAGACCCAGATCTGGGGAGTGTGGATCACCGGGAGGACTGCAGAGGGGCAGATGTCTGTGTAGGAGAGTAGTGGAGACAGAGGATGAAATAGTAGGAAGAAAAAGAAAGCAAAGGGAAAGCAAGTGAGAAGGTGAAAGAAGAGAAAGGAATGAGAGAATTGAGACGGAGGGGAGGAAAAGGAAGAGGAAGGAAGTCCAGATCAAGAAGGTAGAGGCAGAAAGCGACGAAAGTGGGGGAAAATGGAGGAAAGAAAAGGAGAAATGTAGGCACACAGAGCCAAGAAGGGAGAGAAACCCAGTGAGAAGAAGGGAGAGAGGACAAGAGGGAGACAAGGCGGGGAATCCAGGCCACGGTACTCACATGCCCAAATGGGTCCAGGTGGTTGTTGGTGAGCTTGAGTTTCTGGAAGGAGACGAGCTGCCTCATCCAATGCGCCCCGGTGGCGGGGGAGTCTGGGTGCACGTACAGGCGGCCAGGCATGGCGGGCTCAGCTTTGCCCGTCACAGACCTAGATGAAGGAGAGGTGTACTAGAGGCCTGGCTCAGAGTCTGGAGGTAGCGCACTGCACCGAAGCGTGCTTCAGTTCACGCACCAGGTGAGGGTTGTTGAGTAGTAGCTGGGAATAATCTGGAGGCTCTCCCGTCTCCCTTAGGTATCTGCAATCCCAGCTGCCCCAGAATACTTTGTGCCTGCGCCCAGGCAAGCCCCTGGCCCAGCCCTTTCTTCTTACAGCCTCTCGCATCCCACAAAAAAGTGGCGGGTTCTGGAGGTCTGGACGTGCAAAAAGCCTTGAAAATTCCTTGAGGGCTTTCAACGGGGGTTTCATCGTCAGGCCCCTGCACTGCTGGCAGCCATGGGAACGATTCTACCCAAGAAATGGGCCTCTCCTAACTGTTTAACTCGAATACCACGAGTCGATTTTGCAATTTCATAAAAATGCATGTTCAAAGCAGGTAACTCATAAAAAATAACTGTAAATGGTTTTATGCCCCCAGAAATACCTCCAGCACTTGGTAACAATACCCTTTGTAAAAATCCACAACCTGTGGGTGCAGCAATAGACACAGGCACCTCACTTCCTCTGAGCCTCCGCTTTCTCATCTGGAAAACCGGAGCTAATTGTTGTAGTTTCTTTGTCTGAGAATGGTTAGTAAAAAGCAATGGGATAGGCGGACAGACGCCTTTAGCACACAGTAGGAACTAAAAAAAAAAAAAAAGTTCACTGATACAACTTTTCAACTTTTTGGGAGAAGGTTCCACTTTTCTCTCTCCCCGCTCCACCTGCCACCCCAGTGCCTACCATTTATTATCTGCGAATTTGTATCTGTGATCGTCGGCAGGTACAATGTCCATGAGAAGAATGTACTTCGTTTTGGGATTAAGGCCCGTCACCTTCACTTTGTAACTGGGAAACATCCGCCTAAGAGAGAGGGACGGAGGGAGAGAGGGGGGCGGGAATTAATGCCAGTATTTTAAGGCAGCCTCCATCCATTTTAAGGGAAAAAGCAATTCCTGGAGAAACGTGGAAGCGGAAACTAGCCCCGTTCCGCTCTCCGCAAGATCCATCCCGGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGC
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CGTCCCACTTCCCAGCGTCAAGGACCACGCAGGACCCCACCCAAGGGTCCCATCCTCCAGAAGGAGCCAGCCCAGAGATGCATGTGGAACCTTTAGAAATGGCTCCGGTTTTCCCTGGTGCTGGTAAGGCATCTGCTGGGGACTGGCAGATACACAGCCAGGGCGGGTCAGCCAATGCCTACACAAGCTGAATTTACAGAGCACCTCCTGGGAAGCCCAGCAAGAAGGACTCGTGGGCAAAACACCCGGGTTTAACAGAGTGGCTCTGCATTTGCCTGGGAATGCCTTCCGAGCGCTCCAAGCAGGCTGCACAGAGAGTGAATGATTCTTTTTCCTCTCCACCCACGTGCTGAGAGCTGCATTTACCCATCAGTGTGGACCCCTGAGATCCTCTTCCCATCCCAGATCCTGGGGACTTCAGTGCTTCAGCCCCAAGGCCTCAAAGGAGCAGATTTCTCGTTTGGACCTTCATAAACCATCCTCCCCCGCCCCCTTGACCAAATTCATTCCCTCCCAGTCCCCTCCTTTCCCTGAAATCGGCGACCATGCGCCTATCTGTTGCTCCTCTTTGAAGCTACAACCTTCCAGGACAGGGAACTCCTTTTGTAATTAGAGAGACCTAGCCGCAAATCTCTGCTCCCAAATACAAGCTGTAGGACCTTGACAAGTCACCCCCGTCCCCTGGACTCTCCTGTGCAAAAGCTATGCCTCCCGTCCGCCCCCTAGGCTGCCGTGAGAATCAAATGCCCAAGACGAATGTACCCACTTGTATGGCAGAATCATCCAGCTAAAAGTTCTAAACGTGAATACAGAATCCGTGTTCTGTTCTAGTAATTAATTATCTTCTACGATGAGATTTGGGGACATTTTTTCAAAAATCAGTGTTTTGTGTTTTGTTTTTCTTTGGGGAAGAGGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAAGCTAAAAAGTGGCACTGGCACCATAGTTCTCTTATGAGTTCATTTCCCATCTGGAAAAGAGGGGGCAGGTGAGCTGGGCTCTCCCTCTCCCCTGGAACATCCCAAAATTAAGGCAGGATTGAGAAGTGGGGAGGGAAGGTATATGGCTTTCATTGTGGTCCAGCCTCTGTGCAGTCTATACTGGGTATCCACTGGGCTAGGAGGTCCATATTTTCTGCAAGACTGAAACACAGCCCTCCACTCCTAACCACAGATCGAATTCACAGACTCTCCAGGCCTGGAATGAGCAGCTTCAATCATTCCTCCATCCCTAGGCAAAGGGAGAGGGTTTGGGCCCTAACGGCAAGGATGCAGCCCCAGACCAGGTGAGCCGGGGGCCATATCTCCAGCCACCAAGGAACGACAGACCCAGATCTGGGGAGTGTGGATCACCGGGAGGACTGCAGAGGGGCAGATGTCTGTGTAGGAGAGTAGTGGAGACAGAGGATGAAATAGTAGGAAGAAAAAGAAAGCAAAGGGAAAGCAAGTGAGAAGGTGAAAGAAGAGAAAGGAATGAGAGAATTGAGACGGAGGGGAGGAAAAGGAAGAGGAAGGAAGTCCAGATCAAGAAGGTAGAGGCAGAAAGCGACGAAAGTGGGGGAAAATGGAGGAAAGAAAAGGAGAAATGTAGGCACACAGAGCCAAGAAGGGAGAGAAACCCAGTGAGAAGAAGGGAGAGAGGACAAGAGGGAGACAAGGCGGGGAATCCAGGCCACGGTACTCACATGCCCAAATGGGTCCAGGTGGTTGTTGGTGAGCTTGAGTTTCTGGAAGGAGACGAGCTGCCTCATCCAATGCGCCCCGGTGGCGGGGGAGTCTGGGTGCACGTACAGGCGGCCAGGCATGGCGGGCTCAGCTTTGCGCGTCACAGACCTAGATGAAGGAGAGGTGTACTAGAGGCCTGGCTCAGAGTCTGGAGGTAGCGCACTGCACCGAAGCGTGCTTCAGTTCACGCACCAGGTGAGGGTTGTTGAGTAGTAGCTGGGAATAATCTGGAGGCTCTCCCGTCTCCCTTAGGTATCTGCAATCCCAGCTGCCCCAGAATACTTTGTGCCTGCGCCCAGGCAAGCCCCTGGCCCAGCCCTTTCTTCTTACAGCCTCTCGCATCCCACAAAAAAGTGGCGGGTTCTGGAGGTCTGGACGTGCAAAAAGCCTTGAAAATTCCTTGAGGGCTTTCAACGGGGGTTTCATCGTCAGGCCCCTGCACTGCTGGCAGCCATGGGAACGATTCTACCCAAGAAATGGGCCTCTCCTAACTGTTTAACTCGAATACCACGAGTCGATTTTGCAATTTCATAAAAATGCATGTTCAAAGCAGGTAACTCATAAAAAATAACTGTAAATGGTTTTATGCCCCCAGAAATACCTCCAGCACTTGGTAACAATACCCTTTGTAAAAATCCACAACCTGTGGGTGCAGCAATAGACACAGGCACCTCACTTCCTCTGAGCCTCCGCTTTCTCATCTGGAAAACCGGAGCTAATTGTTGTAGTTTCTTTGTCTGAGAATGGTTAGTAAAAAGCAATGGGATAGGCGGACAGACGCCTTTAGCACACAGTAGGAACTAAAAAAAAAAAAAAAGTTCACTGATACAACTTTTCAACTTTTTGGGAGAAGGTTCCACTTTTCTCTCTCCCCGCTCCACCTGCCACCCCAGTGCCTACCATTTATTATCTGCGAATTTGTATCTGTGATCGTCGGCAGGTACAATGTCCATGAGAAGAATGTACTTCGTTTTGGGATTAAGGCCCGTCACCTTCACTTTGTAACTGGGAAACATCCGCCTAAGAGAGAGGGACGGAGGGAGAGAGGGGGGCGGGAATTAATGCCAGTATTTTAAGGCAGCCTCCATCCATTTTAAGGGAAAAAGCAATTCCTGGAGAAACGTGGAAGCGGAAACTAGCCCCGTTCCGCTCTCCGCAAGATCCATCCCGGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGC
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Task1_train_18812
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A variant found in Chromosome 12 affects TBX5 (T-box transcription factor 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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CTAGTAATTAATTATCTTCTACGATGAGATTTGGGGACATTTTTTCAAAAATCAGTGTTTTGTGTTTTGTTTTTCTTTGGGGAAGAGGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAAGCTAAAAAGTGGCACTGGCACCATAGTTCTCTTATGAGTTCATTTCCCATCTGGAAAAGAGGGGGCAGGTGAGCTGGGCTCTCCCTCTCCCCTGGAACATCCCAAAATTAAGGCAGGATTGAGAAGTGGGGAGGGAAGGTATATGGCTTTCATTGTGGTCCAGCCTCTGTGCAGTCTATACTGGGTATCCACTGGGCTAGGAGGTCCATATTTTCTGCAAGACTGAAACACAGCCCTCCACTCCTAACCACAGATCGAATTCACAGACTCTCCAGGCCTGGAATGAGCAGCTTCAATCATTCCTCCATCCCTAGGCAAAGGGAGAGGGTTTGGGCCCTAACGGCAAGGATGCAGCCCCAGACCAGGTGAGCCGGGGGCCATATCTCCAGCCACCAAGGAACGACAGACCCAGATCTGGGGAGTGTGGATCACCGGGAGGACTGCAGAGGGGCAGATGTCTGTGTAGGAGAGTAGTGGAGACAGAGGATGAAATAGTAGGAAGAAAAAGAAAGCAAAGGGAAAGCAAGTGAGAAGGTGAAAGAAGAGAAAGGAATGAGAGAATTGAGACGGAGGGGAGGAAAAGGAAGAGGAAGGAAGTCCAGATCAAGAAGGTAGAGGCAGAAAGCGACGAAAGTGGGGGAAAATGGAGGAAAGAAAAGGAGAAATGTAGGCACACAGAGCCAAGAAGGGAGAGAAACCCAGTGAGAAGAAGGGAGAGAGGACAAGAGGGAGACAAGGCGGGGAATCCAGGCCACGGTACTCACATGCCCAAATGGGTCCAGGTGGTTGTTGGTGAGCTTGAGTTTCTGGAAGGAGACGAGCTGCCTCATCCAATGCGCCCCGGTGGCGGGGGAGTCTGGGTGCACGTACAGGCGGCCAGGCATGGCGGGCTCAGCTTTGCCCGTCACAGACCTAGATGAAGGAGAGGTGTACTAGAGGCCTGGCTCAGAGTCTGGAGGTAGCGCACTGCACCGAAGCGTGCTTCAGTTCACGCACCAGGTGAGGGTTGTTGAGTAGTAGCTGGGAATAATCTGGAGGCTCTCCCGTCTCCCTTAGGTATCTGCAATCCCAGCTGCCCCAGAATACTTTGTGCCTGCGCCCAGGCAAGCCCCTGGCCCAGCCCTTTCTTCTTACAGCCTCTCGCATCCCACAAAAAAGTGGCGGGTTCTGGAGGTCTGGACGTGCAAAAAGCCTTGAAAATTCCTTGAGGGCTTTCAACGGGGGTTTCATCGTCAGGCCCCTGCACTGCTGGCAGCCATGGGAACGATTCTACCCAAGAAATGGGCCTCTCCTAACTGTTTAACTCGAATACCACGAGTCGATTTTGCAATTTCATAAAAATGCATGTTCAAAGCAGGTAACTCATAAAAAATAACTGTAAATGGTTTTATGCCCCCAGAAATACCTCCAGCACTTGGTAACAATACCCTTTGTAAAAATCCACAACCTGTGGGTGCAGCAATAGACACAGGCACCTCACTTCCTCTGAGCCTCCGCTTTCTCATCTGGAAAACCGGAGCTAATTGTTGTAGTTTCTTTGTCTGAGAATGGTTAGTAAAAAGCAATGGGATAGGCGGACAGACGCCTTTAGCACACAGTAGGAACTAAAAAAAAAAAAAAAGTTCACTGATACAACTTTTCAACTTTTTGGGAGAAGGTTCCACTTTTCTCTCTCCCCGCTCCACCTGCCACCCCAGTGCCTACCATTTATTATCTGCGAATTTGTATCTGTGATCGTCGGCAGGTACAATGTCCATGAGAAGAATGTACTTCGTTTTGGGATTAAGGCCCGTCACCTTCACTTTGTAACTGGGAAACATCCGCCTAAGAGAGAGGGACGGAGGGAGAGAGGGGGGCGGGAATTAATGCCAGTATTTTAAGGCAGCCTCCATCCATTTTAAGGGAAAAAGCAATTCCTGGAGAAACGTGGAAGCGGAAACTAGCCCCGTTCCGCTCTCCGCAAGATCCATCCCGGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGCAGTTCGTTGATATAAACAGAACGCGCCTCCTAGTTCACTCAGGCCTTGGGCCGAGCGGGGAGCAGACTTTGTTTAATTTTAAATAATAATAAATGTCACTGTTGTCAGTTTATTGAGGGAGGCTTCGGCTGGAGAACGGGGGCGGGGGGCGTCTGGAAAGGCGGCTCCACCCTCCCCCTTCACACACTCGGTGGCTTGGGCCTACCGTTCGCCTGCTCCACACGCCTGCTCGGGGCATCCTCTGGCTTTTTGCTTTGCGGGACGCGGAAGACCCGTCCAGCACGGGTAGGGATGTGGCCAGGACGTCCCCAGGCCTGGGCGCGCGCGTGCACATGCTCACACACTCACACTGACATACAGAGCTGCACCACTCTCCTTCCTCCTCCCCCAGAAGTCTAGCATTTCTAGCTAAAACTCTGCGAGCTTTTAAGGGGAACTCCGGGGCGAGTGTCTTGGCGAAGCTGCCGTGTTTATTGGTGTCTGTATATAGAGCCCGGCCGAGCCCCGGTTCAGTTTTAAAGGCTTCGCCTGCTTTCTATAAACAATGAAAGAGGTAGCGAATACATCCAACGATTCAGAGTTTGACAATCGGGTGGGACCCTGGAGCCACTCCAAGGTCAGGGAGGGTGGGAATGAGGATTGGAGTAAAGATAAAGTCCAAGATCCCTGAAACCCAAAAACCTTCTAGACTCTGTCTTCTCTGGGTCTCTGTTTTCTGTTTTCTCCTTTCCCTCTTCTCTCTTTCCCTCATTACGAATCCAGATAGCACGGCCTCCCAAGCTCTTTATTCTTTCTATATGTGAGGTGGGAGAAATGCCCAGTTTCCG
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CTAGTAATTAATTATCTTCTACGATGAGATTTGGGGACATTTTTTCAAAAATCAGTGTTTTGTGTTTTGTTTTTCTTTGGGGAAGAGGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAAGCTAAAAAGTGGCACTGGCACCATAGTTCTCTTATGAGTTCATTTCCCATCTGGAAAAGAGGGGGCAGGTGAGCTGGGCTCTCCCTCTCCCCTGGAACATCCCAAAATTAAGGCAGGATTGAGAAGTGGGGAGGGAAGGTATATGGCTTTCATTGTGGTCCAGCCTCTGTGCAGTCTATACTGGGTATCCACTGGGCTAGGAGGTCCATATTTTCTGCAAGACTGAAACACAGCCCTCCACTCCTAACCACAGATCGAATTCACAGACTCTCCAGGCCTGGAATGAGCAGCTTCAATCATTCCTCCATCCCTAGGCAAAGGGAGAGGGTTTGGGCCCTAACGGCAAGGATGCAGCCCCAGACCAGGTGAGCCGGGGGCCATATCTCCAGCCACCAAGGAACGACAGACCCAGATCTGGGGAGTGTGGATCACCGGGAGGACTGCAGAGGGGCAGATGTCTGTGTAGGAGAGTAGTGGAGACAGAGGATGAAATAGTAGGAAGAAAAAGAAAGCAAAGGGAAAGCAAGTGAGAAGGTGAAAGAAGAGAAAGGAATGAGAGAATTGAGACGGAGGGGAGGAAAAGGAAGAGGAAGGAAGTCCAGATCAAGAAGGTAGAGGCAGAAAGCGACGAAAGTGGGGGAAAATGGAGGAAAGAAAAGGAGAAATGTAGGCACACAGAGCCAAGAAGGGAGAGAAACCCAGTGAGAAGAAGGGAGAGAGGACAAGAGGGAGACAAGGCGGGGAATCCAGGCCACGGTACTCACATGCCCAAATGGGTCCAGGTGGTTGTTGGTGAGCTTGAGTTTCTGGAAGGAGACGAGCTGCCTCATCCAATGCGCCCCGGTGGCGGGGGAGTCTGGGTGCACGTACAGGCGGCCAGGCATGGCGGGCTCAGCTTTGCCCGTCACAGACCTAGATGAAGGAGAGGTGTACTAGAGGCCTGGCTCAGAGTCTGGAGGTAGCGCACTGCACCGAAGCGTGCTTCAGTTCACGCACCAGGTGAGGGTTGTTGAGTAGTAGCTGGGAATAATCTGGAGGCTCTCCCGTCTCCCTTAGGTATCTGCAATCCCAGCTGCCCCAGAATACTTTGTGCCTGCGCCCAGGCAAGCCCCTGGCCCAGCCCTTTCTTCTTACAGCCTCTCGCATCCCACAAAAAAGTGGCGGGTTCTGGAGGTCTGGACGTGCAAAAAGCCTTGAAAATTCCTTGAGGGCTTTCAACGGGGGTTTCATCGTCAGGCCCCTGCACTGCTGGCAGCCATGGGAACGATTCTACCCAAGAAATGGGCCTCTCCTAACTGTTTAACTCGAATACCACGAGTCGATTTTGCAATTTCATAAAAATGCATGTTCAAAGCAGGTAACTCATAAAAAATAACTGTAAATGGTTTTATGCCCCCAGAAATACCTCCAGCACTTGGTAACAATACCCTTTGTAAAAATCCACAACCTGTGGGTGCAGCAATAGACACAGGCACCTCACTTCCTCTGAGCCTCCGCTTTCTCATCTGGAAAACCGGAGCTAATTGTTGTAGTTTCTTTGTCTGAGAATGGTTAGTAAAAAGCAATGGGATAGGCGGACAGACGCCTTTAGCACACAGTAGGAACTAAAAAAAAAAAAAAAGTTCACTGATACAACTTTTCAACTTTTTGGGAGAAGGTTCCACTTTTCTCTCTCCCCGCTCCACCTGCCACCCCAGTGCCTACCATTTATTATCTGCGAATTTGTATTTGTGATCGTCGGCAGGTACAATGTCCATGAGAAGAATGTACTTCGTTTTGGGATTAAGGCCCGTCACCTTCACTTTGTAACTGGGAAACATCCGCCTAAGAGAGAGGGACGGAGGGAGAGAGGGGGGCGGGAATTAATGCCAGTATTTTAAGGCAGCCTCCATCCATTTTAAGGGAAAAAGCAATTCCTGGAGAAACGTGGAAGCGGAAACTAGCCCCGTTCCGCTCTCCGCAAGATCCATCCCGGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGCAGTTCGTTGATATAAACAGAACGCGCCTCCTAGTTCACTCAGGCCTTGGGCCGAGCGGGGAGCAGACTTTGTTTAATTTTAAATAATAATAAATGTCACTGTTGTCAGTTTATTGAGGGAGGCTTCGGCTGGAGAACGGGGGCGGGGGGCGTCTGGAAAGGCGGCTCCACCCTCCCCCTTCACACACTCGGTGGCTTGGGCCTACCGTTCGCCTGCTCCACACGCCTGCTCGGGGCATCCTCTGGCTTTTTGCTTTGCGGGACGCGGAAGACCCGTCCAGCACGGGTAGGGATGTGGCCAGGACGTCCCCAGGCCTGGGCGCGCGCGTGCACATGCTCACACACTCACACTGACATACAGAGCTGCACCACTCTCCTTCCTCCTCCCCCAGAAGTCTAGCATTTCTAGCTAAAACTCTGCGAGCTTTTAAGGGGAACTCCGGGGCGAGTGTCTTGGCGAAGCTGCCGTGTTTATTGGTGTCTGTATATAGAGCCCGGCCGAGCCCCGGTTCAGTTTTAAAGGCTTCGCCTGCTTTCTATAAACAATGAAAGAGGTAGCGAATACATCCAACGATTCAGAGTTTGACAATCGGGTGGGACCCTGGAGCCACTCCAAGGTCAGGGAGGGTGGGAATGAGGATTGGAGTAAAGATAAAGTCCAAGATCCCTGAAACCCAAAAACCTTCTAGACTCTGTCTTCTCTGGGTCTCTGTTTTCTGTTTTCTCCTTTCCCTCTTCTCTCTTTCCCTCATTACGAATCCAGATAGCACGGCCTCCCAAGCTCTTTATTCTTTCTATATGTGAGGTGGGAGAAATGCCCAGTTTCCG
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Task1_train_18813
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Located on Chromosome 12, this mutation impacts TBX5 (T-box transcription factor 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Aortic valve disease 2
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GGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAAGCTAAAAAGTGGCACTGGCACCATAGTTCTCTTATGAGTTCATTTCCCATCTGGAAAAGAGGGGGCAGGTGAGCTGGGCTCTCCCTCTCCCCTGGAACATCCCAAAATTAAGGCAGGATTGAGAAGTGGGGAGGGAAGGTATATGGCTTTCATTGTGGTCCAGCCTCTGTGCAGTCTATACTGGGTATCCACTGGGCTAGGAGGTCCATATTTTCTGCAAGACTGAAACACAGCCCTCCACTCCTAACCACAGATCGAATTCACAGACTCTCCAGGCCTGGAATGAGCAGCTTCAATCATTCCTCCATCCCTAGGCAAAGGGAGAGGGTTTGGGCCCTAACGGCAAGGATGCAGCCCCAGACCAGGTGAGCCGGGGGCCATATCTCCAGCCACCAAGGAACGACAGACCCAGATCTGGGGAGTGTGGATCACCGGGAGGACTGCAGAGGGGCAGATGTCTGTGTAGGAGAGTAGTGGAGACAGAGGATGAAATAGTAGGAAGAAAAAGAAAGCAAAGGGAAAGCAAGTGAGAAGGTGAAAGAAGAGAAAGGAATGAGAGAATTGAGACGGAGGGGAGGAAAAGGAAGAGGAAGGAAGTCCAGATCAAGAAGGTAGAGGCAGAAAGCGACGAAAGTGGGGGAAAATGGAGGAAAGAAAAGGAGAAATGTAGGCACACAGAGCCAAGAAGGGAGAGAAACCCAGTGAGAAGAAGGGAGAGAGGACAAGAGGGAGACAAGGCGGGGAATCCAGGCCACGGTACTCACATGCCCAAATGGGTCCAGGTGGTTGTTGGTGAGCTTGAGTTTCTGGAAGGAGACGAGCTGCCTCATCCAATGCGCCCCGGTGGCGGGGGAGTCTGGGTGCACGTACAGGCGGCCAGGCATGGCGGGCTCAGCTTTGCCCGTCACAGACCTAGATGAAGGAGAGGTGTACTAGAGGCCTGGCTCAGAGTCTGGAGGTAGCGCACTGCACCGAAGCGTGCTTCAGTTCACGCACCAGGTGAGGGTTGTTGAGTAGTAGCTGGGAATAATCTGGAGGCTCTCCCGTCTCCCTTAGGTATCTGCAATCCCAGCTGCCCCAGAATACTTTGTGCCTGCGCCCAGGCAAGCCCCTGGCCCAGCCCTTTCTTCTTACAGCCTCTCGCATCCCACAAAAAAGTGGCGGGTTCTGGAGGTCTGGACGTGCAAAAAGCCTTGAAAATTCCTTGAGGGCTTTCAACGGGGGTTTCATCGTCAGGCCCCTGCACTGCTGGCAGCCATGGGAACGATTCTACCCAAGAAATGGGCCTCTCCTAACTGTTTAACTCGAATACCACGAGTCGATTTTGCAATTTCATAAAAATGCATGTTCAAAGCAGGTAACTCATAAAAAATAACTGTAAATGGTTTTATGCCCCCAGAAATACCTCCAGCACTTGGTAACAATACCCTTTGTAAAAATCCACAACCTGTGGGTGCAGCAATAGACACAGGCACCTCACTTCCTCTGAGCCTCCGCTTTCTCATCTGGAAAACCGGAGCTAATTGTTGTAGTTTCTTTGTCTGAGAATGGTTAGTAAAAAGCAATGGGATAGGCGGACAGACGCCTTTAGCACACAGTAGGAACTAAAAAAAAAAAAAAAGTTCACTGATACAACTTTTCAACTTTTTGGGAGAAGGTTCCACTTTTCTCTCTCCCCGCTCCACCTGCCACCCCAGTGCCTACCATTTATTATCTGCGAATTTGTATCTGTGATCGTCGGCAGGTACAATGTCCATGAGAAGAATGTACTTCGTTTTGGGATTAAGGCCCGTCACCTTCACTTTGTAACTGGGAAACATCCGCCTAAGAGAGAGGGACGGAGGGAGAGAGGGGGGCGGGAATTAATGCCAGTATTTTAAGGCAGCCTCCATCCATTTTAAGGGAAAAAGCAATTCCTGGAGAAACGTGGAAGCGGAAACTAGCCCCGTTCCGCTCTCCGCAAGATCCATCCCGGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGCAGTTCGTTGATATAAACAGAACGCGCCTCCTAGTTCACTCAGGCCTTGGGCCGAGCGGGGAGCAGACTTTGTTTAATTTTAAATAATAATAAATGTCACTGTTGTCAGTTTATTGAGGGAGGCTTCGGCTGGAGAACGGGGGCGGGGGGCGTCTGGAAAGGCGGCTCCACCCTCCCCCTTCACACACTCGGTGGCTTGGGCCTACCGTTCGCCTGCTCCACACGCCTGCTCGGGGCATCCTCTGGCTTTTTGCTTTGCGGGACGCGGAAGACCCGTCCAGCACGGGTAGGGATGTGGCCAGGACGTCCCCAGGCCTGGGCGCGCGCGTGCACATGCTCACACACTCACACTGACATACAGAGCTGCACCACTCTCCTTCCTCCTCCCCCAGAAGTCTAGCATTTCTAGCTAAAACTCTGCGAGCTTTTAAGGGGAACTCCGGGGCGAGTGTCTTGGCGAAGCTGCCGTGTTTATTGGTGTCTGTATATAGAGCCCGGCCGAGCCCCGGTTCAGTTTTAAAGGCTTCGCCTGCTTTCTATAAACAATGAAAGAGGTAGCGAATACATCCAACGATTCAGAGTTTGACAATCGGGTGGGACCCTGGAGCCACTCCAAGGTCAGGGAGGGTGGGAATGAGGATTGGAGTAAAGATAAAGTCCAAGATCCCTGAAACCCAAAAACCTTCTAGACTCTGTCTTCTCTGGGTCTCTGTTTTCTGTTTTCTCCTTTCCCTCTTCTCTCTTTCCCTCATTACGAATCCAGATAGCACGGCCTCCCAAGCTCTTTATTCTTTCTATATGTGAGGTGGGAGAAATGCCCAGTTTCCGGGCTTGAACTTCTGGAGTATTTCCTCCATCCTAGGAGAGATCAATGGAGGAATCTCCTTGTGCCTCTTTAACCAGGATCTATCTTT
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GGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAAGCTAAAAAGTGGCACTGGCACCATAGTTCTCTTATGAGTTCATTTCCCATCTGGAAAAGAGGGGGCAGGTGAGCTGGGCTCTCCCTCTCCCCTGGAACATCCCAAAATTAAGGCAGGATTGAGAAGTGGGGAGGGAAGGTATATGGCTTTCATTGTGGTCCAGCCTCTGTGCAGTCTATACTGGGTATCCACTGGGCTAGGAGGTCCATATTTTCTGCAAGACTGAAACACAGCCCTCCACTCCTAACCACAGATCGAATTCACAGACTCTCCAGGCCTGGAATGAGCAGCTTCAATCATTCCTCCATCCCTAGGCAAAGGGAGAGGGTTTGGGCCCTAACGGCAAGGATGCAGCCCCAGACCAGGTGAGCCGGGGGCCATATCTCCAGCCACCAAGGAACGACAGACCCAGATCTGGGGAGTGTGGATCACCGGGAGGACTGCAGAGGGGCAGATGTCTGTGTAGGAGAGTAGTGGAGACAGAGGATGAAATAGTAGGAAGAAAAAGAAAGCAAAGGGAAAGCAAGTGAGAAGGTGAAAGAAGAGAAAGGAATGAGAGAATTGAGACGGAGGGGAGGAAAAGGAAGAGGAAGGAAGTCCAGATCAAGAAGGTAGAGGCAGAAAGCGACGAAAGTGGGGGAAAATGGAGGAAAGAAAAGGAGAAATGTAGGCACACAGAGCCAAGAAGGGAGAGAAACCCAGTGAGAAGAAGGGAGAGAGGACAAGAGGGAGACAAGGCGGGGAATCCAGGCCACGGTACTCACATGCCCAAATGGGTCCAGGTGGTTGTTGGTGAGCTTGAGTTTCTGGAAGGAGACGAGCTGCCTCATCCAATGCGCCCCGGTGGCGGGGGAGTCTGGGTGCACGTACAGGCGGCCAGGCATGGCGGGCTCAGCTTTGCCCGTCACAGACCTAGATGAAGGAGAGGTGTACTAGAGGCCTGGCTCAGAGTCTGGAGGTAGCGCACTGCACCGAAGCGTGCTTCAGTTCACGCACCAGGTGAGGGTTGTTGAGTAGTAGCTGGGAATAATCTGGAGGCTCTCCCGTCTCCCTTAGGTATCTGCAATCCCAGCTGCCCCAGAATACTTTGTGCCTGCGCCCAGGCAAGCCCCTGGCCCAGCCCTTTCTTCTTACAGCCTCTCGCATCCCACAAAAAAGTGGCGGGTTCTGGAGGTCTGGACGTGCAAAAAGCCTTGAAAATTCCTTGAGGGCTTTCAACGGGGGTTTCATCGTCAGGCCCCTGCACTGCTGGCAGCCATGGGAACGATTCTACCCAAGAAATGGGCCTCTCCTAACTGTTTAACTCGAATACCACGAGTCGATTTTGCAATTTCATAAAAATGCATGTTCAAAGCAGGTAACTCATAAAAAATAACTGTAAATGGTTTTATGCCCCCAGAAATACCTCCAGCACTTGGTAACAATACCCTTTGTAAAAATCCACAACCTGTGGGTGCAGCAATAGACACAGGCACCTCACTTCCTCTGAGCCTCCGCTTTCTCATCTGGAAAACCGGAGCTAATTGTTGTAGTTTCTTTGTCTGAGAATGGTTAGTAAAAAGCAATGGGATAGGCGGACAGACGCCTTTAGCACACAGTAGGAACTAAAAAAAAAAAAAAAGTTCACTGATACAACTTTTCAACTTTTTGGGAGAAGGTTCCACTTTTCTCTCTCCCCGCTCCACCTGCCACCCCAGTGCCTACCATTTATTATCTGCGAATTTGTATCTGTGATCGTCGGCAGGTACAATGTCCATGAGAAGAATGTACTTCGTTTTGGGATTAAGGCCCGTCACCTTCACTTTGTAACTGGGTAACATCCGCCTAAGAGAGAGGGACGGAGGGAGAGAGGGGGGCGGGAATTAATGCCAGTATTTTAAGGCAGCCTCCATCCATTTTAAGGGAAAAAGCAATTCCTGGAGAAACGTGGAAGCGGAAACTAGCCCCGTTCCGCTCTCCGCAAGATCCATCCCGGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGCAGTTCGTTGATATAAACAGAACGCGCCTCCTAGTTCACTCAGGCCTTGGGCCGAGCGGGGAGCAGACTTTGTTTAATTTTAAATAATAATAAATGTCACTGTTGTCAGTTTATTGAGGGAGGCTTCGGCTGGAGAACGGGGGCGGGGGGCGTCTGGAAAGGCGGCTCCACCCTCCCCCTTCACACACTCGGTGGCTTGGGCCTACCGTTCGCCTGCTCCACACGCCTGCTCGGGGCATCCTCTGGCTTTTTGCTTTGCGGGACGCGGAAGACCCGTCCAGCACGGGTAGGGATGTGGCCAGGACGTCCCCAGGCCTGGGCGCGCGCGTGCACATGCTCACACACTCACACTGACATACAGAGCTGCACCACTCTCCTTCCTCCTCCCCCAGAAGTCTAGCATTTCTAGCTAAAACTCTGCGAGCTTTTAAGGGGAACTCCGGGGCGAGTGTCTTGGCGAAGCTGCCGTGTTTATTGGTGTCTGTATATAGAGCCCGGCCGAGCCCCGGTTCAGTTTTAAAGGCTTCGCCTGCTTTCTATAAACAATGAAAGAGGTAGCGAATACATCCAACGATTCAGAGTTTGACAATCGGGTGGGACCCTGGAGCCACTCCAAGGTCAGGGAGGGTGGGAATGAGGATTGGAGTAAAGATAAAGTCCAAGATCCCTGAAACCCAAAAACCTTCTAGACTCTGTCTTCTCTGGGTCTCTGTTTTCTGTTTTCTCCTTTCCCTCTTCTCTCTTTCCCTCATTACGAATCCAGATAGCACGGCCTCCCAAGCTCTTTATTCTTTCTATATGTGAGGTGGGAGAAATGCCCAGTTTCCGGGCTTGAACTTCTGGAGTATTTCCTCCATCCTAGGAGAGATCAATGGAGGAATCTCCTTGTGCCTCTTTAACCAGGATCTATCTTT
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Task1_train_18814
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The gene TBX5 (T-box transcription factor 5) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Holt-Oram syndrome
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GGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGCAGTTCGTTGATATAAACAGAACGCGCCTCCTAGTTCACTCAGGCCTTGGGCCGAGCGGGGAGCAGACTTTGTTTAATTTTAAATAATAATAAATGTCACTGTTGTCAGTTTATTGAGGGAGGCTTCGGCTGGAGAACGGGGGCGGGGGGCGTCTGGAAAGGCGGCTCCACCCTCCCCCTTCACACACTCGGTGGCTTGGGCCTACCGTTCGCCTGCTCCACACGCCTGCTCGGGGCATCCTCTGGCTTTTTGCTTTGCGGGACGCGGAAGACCCGTCCAGCACGGGTAGGGATGTGGCCAGGACGTCCCCAGGCCTGGGCGCGCGCGTGCACATGCTCACACACTCACACTGACATACAGAGCTGCACCACTCTCCTTCCTCCTCCCCCAGAAGTCTAGCATTTCTAGCTAAAACTCTGCGAGCTTTTAAGGGGAACTCCGGGGCGAGTGTCTTGGCGAAGCTGCCGTGTTTATTGGTGTCTGTATATAGAGCCCGGCCGAGCCCCGGTTCAGTTTTAAAGGCTTCGCCTGCTTTCTATAAACAATGAAAGAGGTAGCGAATACATCCAACGATTCAGAGTTTGACAATCGGGTGGGACCCTGGAGCCACTCCAAGGTCAGGGAGGGTGGGAATGAGGATTGGAGTAAAGATAAAGTCCAAGATCCCTGAAACCCAAAAACCTTCTAGACTCTGTCTTCTCTGGGTCTCTGTTTTCTGTTTTCTCCTTTCCCTCTTCTCTCTTTCCCTCATTACGAATCCAGATAGCACGGCCTCCCAAGCTCTTTATTCTTTCTATATGTGAGGTGGGAGAAATGCCCAGTTTCCGGGCTTGAACTTCTGGAGTATTTCCTCCATCCTAGGAGAGATCAATGGAGGAATCTCCTTGTGCCTCTTTAACCAGGATCTATCTTTCGCTCTCTCTCTCCTCTCCTCTCCTTTCTCTTCTTTCTCTATATTCCCTCTCCTTTTGCCCCTTTCCTTCCTTCTTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGGGTTGCAACAACCACTTGAACCCACAGTGCTGTATTGTCTGCTTCTAATGCCATCAGCACAAGGCTATGGAGTGATCACCCACCATCAGGGTGCTCCGGAATGTCACTGAGGAGGACCGGAATAAGAAAAAACCAACCAAACAAACAAACCAAAAAAAAAAAACCAGAGCCAATTTCAATCCACTTCACCTGAGATGGGTGGGGGGGATAGATAAAAAACCTAATTTAGAAAAACTAGGAACCTAATCTAGAAAACCACTCAGAATATTCTCATGTAGACACTCAGATGCCCACACATCAAACATACAGATGTGCAAATACTTGCTTATTCTCGACCATGGTGAGTGCAAACCTGAACATACATGAATTTTGAAACCTAAAAATGTTTGTATTATCATATATTCTTACAGTCCAGAAGGATAATTAATCCTAAATATCTATATTAACAAACCTTCCAGGCTCTCTCTACAAGTAGTTCCATTCACATCCAGCTATTTTGATTATAGGACACGCCTGATGCCATTTAACATTTTGGCTTTCAGCTAAAACTAAATTTACAGAACCGATGCAAATGTATATATATACATATATATACATATGTGCACACACACATACATGCACACACAAACTCTTCATTTTGGAATAATTTACAACAGTCTAAAAAGTGGGTTTGCTTTTCCTTAAAAGAAAAAAAAAAATCCCTAAGTTTCCTAAACTGTGTTCACGCTCTCTGCTTCTCTACAAATATACACACGTTTTCCTGAAACTTAAAGGCCAAAGAGAGAAGCCGGGAAAAGCCAGGAAGGGATCGAAATCCCAAGGCAGGATTTTAGCCATGTGTAAGTGTCTCTTCTGGTCGTCACCCCGTTTCACCCCATGTGACACCTTATTTAAAAATTACCAGGATCTACTGAGGGGCCGACTTGAGCGCCCAGTGCGTCCTGGGTTTTGGGCGCAGAGCGCAAGGTGAGGCTCCTCCCTCTGCCTGGGCCCAGGTTGTAGCCTGGCGAACCCGAGGCTCCTGGTGCCCTCCGGGCAGAGCTCTGTGCGCTCCCAGCGGCCGGTGATGGCGCGCCAGCCAGCCAGGCCCCGACCGCAAGACAAATGGTGCGGCGCGCGGGTCTAGTCGGCGGCGCGGAGGAGGCAGGAGGAGGCAGGAGGAGGCGGGAGGAGGCGAAGGCTACGGAAGATCAGAAGAGGGGTCAAGCCATCGCTCATGCCGGCCTGAATCGGCCGCTGACCTGGCCCTTATTAAGATGCTGGGGGCCGATTCTACACATAGTGCAGAGGGAAAGGAATTATCTAGGCCATTGTTAGCTGACCCCAAACGGCCGGATAATTGAGATTTCTCGAACAATTTAAATAGATTTCAAAAATCCTTTGGCCGTAAAGATAACCGTCACAATAAAGTAGATGGCAATACGCTAGCATTTGGGGAGACAGGGCAGAGAAAGGTGGAACTGAGTGGGAATAAAAAGGAAAAGGGATGATTATAGTCGTTGGGTTCGTTTTGGGGTTTTTTTATTTTGTTTTTGTTCTGTCCCCGCAAGAGAAGCCGAGCAGGAAAGCCAGACTCTGACTTTGATCTCTGCAAAGGGACCCGAAGCGCGAGGTCTCCTTACCTGCTGGGTGAAGGCGGCCTGCGGGGACGACGGGGACTTGCTGGGGGCCCCGAGCGCGCTCTCGGGTTTCGAATCGCAGGGCAGGTCTTTTGCGTCAGGCTCCAGAGGCGTGTGCGCCAGGCCAAA
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GGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGCAGTTCGTTGATATAAACAGAACGCGCCTCCTAGTTCACTCAGGCCTTGGGCCGAGCGGGGAGCAGACTTTGTTTAATTTTAAATAATAATAAATGTCACTGTTGTCAGTTTATTGAGGGAGGCTTCGGCTGGAGAACGGGGGCGGGGGGCGTCTGGAAAGGCGGCTCCACCCTCCCCCTTCACACACTCGGTGGCTTGGGCCTACCGTTCGCCTGCTCCACACGCCTGCTCGGGGCATCCTCTGGCTTTTTGCTTTGCGGGACGCGGAAGACCCGTCCAGCACGGGTAGGGATGTGGCCAGGACGTCCCCAGGCCTGGGCGCGCGCGTGCACATGCTCACACACTCACACTGACATACAGAGCTGCACCACTCTCCTTCCTCCTCCCCCAGAAGTCTAGCATTTCTAGCTAAAACTCTGCGAGCTTTTAAGGGGAACTCCGGGGCGAGTGTCTTGGCGAAGCTGCCGTGTTTATTGGTGTCTGTATATAGAGCCCGGCCGAGCCCCGGTTCAGTTTTAAAGGCTTCGCCTGCTTTCTATAAACAATGAAAGAGGTAGCGAATACATCCAACGATTCAGAGTTTGACAATCGGGTGGGACCCTGGAGCCACTCCAAGGTCAGGGAGGGTGGGAATGAGGATTGGAGTAAAGATAAAGTCCAAGATCCCTGAAACCCAAAAACCTTCTAGACTCTGTCTTCTCTGGGTCTCTGTTTTCTGTTTTCTCCTTTCCCTCTTCTCTCTTTCCCTCATTACGAATCCAGATAGCACGGCCTCCCAAGCTCTTTATTCTTTCTATATGTGAGGTGGGAGAAATGCCCAGTTTCCGGGCTTGAACTTCTGGAGTATTTCCTCCATCCTAGGAGAGATCAATGGAGGAATCTCCTTGTGCCTCTTTAACCAGGATCTATCTTTCGCTCTCTCTCTCCTCTCCTCTCCTTTCTCTTCTTTCTCTATATTCCCTCTCCTTTTGCCCCTTTCCTTCCTTCTTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCTAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGGGTTGCAACAACCACTTGAACCCACAGTGCTGTATTGTCTGCTTCTAATGCCATCAGCACAAGGCTATGGAGTGATCACCCACCATCAGGGTGCTCCGGAATGTCACTGAGGAGGACCGGAATAAGAAAAAACCAACCAAACAAACAAACCAAAAAAAAAAAACCAGAGCCAATTTCAATCCACTTCACCTGAGATGGGTGGGGGGGATAGATAAAAAACCTAATTTAGAAAAACTAGGAACCTAATCTAGAAAACCACTCAGAATATTCTCATGTAGACACTCAGATGCCCACACATCAAACATACAGATGTGCAAATACTTGCTTATTCTCGACCATGGTGAGTGCAAACCTGAACATACATGAATTTTGAAACCTAAAAATGTTTGTATTATCATATATTCTTACAGTCCAGAAGGATAATTAATCCTAAATATCTATATTAACAAACCTTCCAGGCTCTCTCTACAAGTAGTTCCATTCACATCCAGCTATTTTGATTATAGGACACGCCTGATGCCATTTAACATTTTGGCTTTCAGCTAAAACTAAATTTACAGAACCGATGCAAATGTATATATATACATATATATACATATGTGCACACACACATACATGCACACACAAACTCTTCATTTTGGAATAATTTACAACAGTCTAAAAAGTGGGTTTGCTTTTCCTTAAAAGAAAAAAAAAAATCCCTAAGTTTCCTAAACTGTGTTCACGCTCTCTGCTTCTCTACAAATATACACACGTTTTCCTGAAACTTAAAGGCCAAAGAGAGAAGCCGGGAAAAGCCAGGAAGGGATCGAAATCCCAAGGCAGGATTTTAGCCATGTGTAAGTGTCTCTTCTGGTCGTCACCCCGTTTCACCCCATGTGACACCTTATTTAAAAATTACCAGGATCTACTGAGGGGCCGACTTGAGCGCCCAGTGCGTCCTGGGTTTTGGGCGCAGAGCGCAAGGTGAGGCTCCTCCCTCTGCCTGGGCCCAGGTTGTAGCCTGGCGAACCCGAGGCTCCTGGTGCCCTCCGGGCAGAGCTCTGTGCGCTCCCAGCGGCCGGTGATGGCGCGCCAGCCAGCCAGGCCCCGACCGCAAGACAAATGGTGCGGCGCGCGGGTCTAGTCGGCGGCGCGGAGGAGGCAGGAGGAGGCAGGAGGAGGCGGGAGGAGGCGAAGGCTACGGAAGATCAGAAGAGGGGTCAAGCCATCGCTCATGCCGGCCTGAATCGGCCGCTGACCTGGCCCTTATTAAGATGCTGGGGGCCGATTCTACACATAGTGCAGAGGGAAAGGAATTATCTAGGCCATTGTTAGCTGACCCCAAACGGCCGGATAATTGAGATTTCTCGAACAATTTAAATAGATTTCAAAAATCCTTTGGCCGTAAAGATAACCGTCACAATAAAGTAGATGGCAATACGCTAGCATTTGGGGAGACAGGGCAGAGAAAGGTGGAACTGAGTGGGAATAAAAAGGAAAAGGGATGATTATAGTCGTTGGGTTCGTTTTGGGGTTTTTTTATTTTGTTTTTGTTCTGTCCCCGCAAGAGAAGCCGAGCAGGAAAGCCAGACTCTGACTTTGATCTCTGCAAAGGGACCCGAAGCGCGAGGTCTCCTTACCTGCTGGGTGAAGGCGGCCTGCGGGGACGACGGGGACTTGCTGGGGGCCCCGAGCGCGCTCTCGGGTTTCGAATCGCAGGGCAGGTCTTTTGCGTCAGGCTCCAGAGGCGTGTGCGCCAGGCCAAA
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Task1_train_18815
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Here is a variant affecting TBX5 (T-box transcription factor 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Holt-Oram syndrome
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AGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGCAGTTCGTTGATATAAACAGAACGCGCCTCCTAGTTCACTCAGGCCTTGGGCCGAGCGGGGAGCAGACTTTGTTTAATTTTAAATAATAATAAATGTCACTGTTGTCAGTTTATTGAGGGAGGCTTCGGCTGGAGAACGGGGGCGGGGGGCGTCTGGAAAGGCGGCTCCACCCTCCCCCTTCACACACTCGGTGGCTTGGGCCTACCGTTCGCCTGCTCCACACGCCTGCTCGGGGCATCCTCTGGCTTTTTGCTTTGCGGGACGCGGAAGACCCGTCCAGCACGGGTAGGGATGTGGCCAGGACGTCCCCAGGCCTGGGCGCGCGCGTGCACATGCTCACACACTCACACTGACATACAGAGCTGCACCACTCTCCTTCCTCCTCCCCCAGAAGTCTAGCATTTCTAGCTAAAACTCTGCGAGCTTTTAAGGGGAACTCCGGGGCGAGTGTCTTGGCGAAGCTGCCGTGTTTATTGGTGTCTGTATATAGAGCCCGGCCGAGCCCCGGTTCAGTTTTAAAGGCTTCGCCTGCTTTCTATAAACAATGAAAGAGGTAGCGAATACATCCAACGATTCAGAGTTTGACAATCGGGTGGGACCCTGGAGCCACTCCAAGGTCAGGGAGGGTGGGAATGAGGATTGGAGTAAAGATAAAGTCCAAGATCCCTGAAACCCAAAAACCTTCTAGACTCTGTCTTCTCTGGGTCTCTGTTTTCTGTTTTCTCCTTTCCCTCTTCTCTCTTTCCCTCATTACGAATCCAGATAGCACGGCCTCCCAAGCTCTTTATTCTTTCTATATGTGAGGTGGGAGAAATGCCCAGTTTCCGGGCTTGAACTTCTGGAGTATTTCCTCCATCCTAGGAGAGATCAATGGAGGAATCTCCTTGTGCCTCTTTAACCAGGATCTATCTTTCGCTCTCTCTCTCCTCTCCTCTCCTTTCTCTTCTTTCTCTATATTCCCTCTCCTTTTGCCCCTTTCCTTCCTTCTTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGGGTTGCAACAACCACTTGAACCCACAGTGCTGTATTGTCTGCTTCTAATGCCATCAGCACAAGGCTATGGAGTGATCACCCACCATCAGGGTGCTCCGGAATGTCACTGAGGAGGACCGGAATAAGAAAAAACCAACCAAACAAACAAACCAAAAAAAAAAAACCAGAGCCAATTTCAATCCACTTCACCTGAGATGGGTGGGGGGGATAGATAAAAAACCTAATTTAGAAAAACTAGGAACCTAATCTAGAAAACCACTCAGAATATTCTCATGTAGACACTCAGATGCCCACACATCAAACATACAGATGTGCAAATACTTGCTTATTCTCGACCATGGTGAGTGCAAACCTGAACATACATGAATTTTGAAACCTAAAAATGTTTGTATTATCATATATTCTTACAGTCCAGAAGGATAATTAATCCTAAATATCTATATTAACAAACCTTCCAGGCTCTCTCTACAAGTAGTTCCATTCACATCCAGCTATTTTGATTATAGGACACGCCTGATGCCATTTAACATTTTGGCTTTCAGCTAAAACTAAATTTACAGAACCGATGCAAATGTATATATATACATATATATACATATGTGCACACACACATACATGCACACACAAACTCTTCATTTTGGAATAATTTACAACAGTCTAAAAAGTGGGTTTGCTTTTCCTTAAAAGAAAAAAAAAAATCCCTAAGTTTCCTAAACTGTGTTCACGCTCTCTGCTTCTCTACAAATATACACACGTTTTCCTGAAACTTAAAGGCCAAAGAGAGAAGCCGGGAAAAGCCAGGAAGGGATCGAAATCCCAAGGCAGGATTTTAGCCATGTGTAAGTGTCTCTTCTGGTCGTCACCCCGTTTCACCCCATGTGACACCTTATTTAAAAATTACCAGGATCTACTGAGGGGCCGACTTGAGCGCCCAGTGCGTCCTGGGTTTTGGGCGCAGAGCGCAAGGTGAGGCTCCTCCCTCTGCCTGGGCCCAGGTTGTAGCCTGGCGAACCCGAGGCTCCTGGTGCCCTCCGGGCAGAGCTCTGTGCGCTCCCAGCGGCCGGTGATGGCGCGCCAGCCAGCCAGGCCCCGACCGCAAGACAAATGGTGCGGCGCGCGGGTCTAGTCGGCGGCGCGGAGGAGGCAGGAGGAGGCAGGAGGAGGCGGGAGGAGGCGAAGGCTACGGAAGATCAGAAGAGGGGTCAAGCCATCGCTCATGCCGGCCTGAATCGGCCGCTGACCTGGCCCTTATTAAGATGCTGGGGGCCGATTCTACACATAGTGCAGAGGGAAAGGAATTATCTAGGCCATTGTTAGCTGACCCCAAACGGCCGGATAATTGAGATTTCTCGAACAATTTAAATAGATTTCAAAAATCCTTTGGCCGTAAAGATAACCGTCACAATAAAGTAGATGGCAATACGCTAGCATTTGGGGAGACAGGGCAGAGAAAGGTGGAACTGAGTGGGAATAAAAAGGAAAAGGGATGATTATAGTCGTTGGGTTCGTTTTGGGGTTTTTTTATTTTGTTTTTGTTCTGTCCCCGCAAGAGAAGCCGAGCAGGAAAGCCAGACTCTGACTTTGATCTCTGCAAAGGGACCCGAAGCGCGAGGTCTCCTTACCTGCTGGGTGAAGGCGGCCTGCGGGGACGACGGGGACTTGCTGGGGGCCCCGAGCGCGCTCTCGGGTTTCGAATCGCAGGGCAGGTCTTTTGCGTCAGGCTCCAGAGGCGTGTGCGCCAGGCCAAAGCCCTCGTCTGCGTCGGCCATGGTGCGCCCAGGGCCCTGTGCCCGCGCAAGGTTCTGCTCTGAGGACAAGAAGCAGG
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AGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGAAGGCCGCGGTTCCCAGTATAACTCGGTTAATGACCTCTGACATGGGTCTCTAGCAGGAGTTTATTCCTGAATGCCCCCACAACTTCTCCAAGGCCCCTGAAACTCTTCCTCGGAGAGTCGAAATTCCTTGGCCTTCAGCAAAGAAATTCCAGACCCTTCCAGATCTGGTTTCAGAAAAAGCTGAGGCCTGAACTAAGATTCAGTCGTTATCAAGCCGATGGCCCGGAACTGTGCCGTCTCTGCTGCCTTTCTGCGCCCTGGCGCACTCCAAATTTCCCTCCACCTTCTGAGGAACATGCCCCAGAAAGCAAAGATTCTCAAGGCTGGCCCGGGGCGAAAAGACAAGTTGGCAGATCTCGGCTCACTCAGCGATGGCGGGAACGGTCGAATGGAGGCCTCTCCCTCCGAGCCCCGGAGCCAAAGCCTCGCAGTGTTTATCAGCCTGAGCGAGCGCGCCCGGAGGCGGAGGCGCAGAAGACTTCGCAGGCCTTTTATAGTTAAATCCTCACGGCTCAGGCTCGGGGGGAAAGAGGGACTCGGACGTGTCTTTCCTTCCTGGGGGAATAGGAAGAGGACTGCAGTTCGTTGATATAAACAGAACGCGCCTCCTAGTTCACTCAGGCCTTGGGCCGAGCGGGGAGCAGACTTTGTTTAATTTTAAATAATAATAAATGTCACTGTTGTCAGTTTATTGAGGGAGGCTTCGGCTGGAGAACGGGGGCGGGGGGCGTCTGGAAAGGCGGCTCCACCCTCCCCCTTCACACACTCGGTGGCTTGGGCCTACCGTTCGCCTGCTCCACACGCCTGCTCGGGGCATCCTCTGGCTTTTTGCTTTGCGGGACGCGGAAGACCCGTCCAGCACGGGTAGGGATGTGGCCAGGACGTCCCCAGGCCTGGGCGCGCGCGTGCACATGCTCACACACTCACACTGACATACAGAGCTGCACCACTCTCCTTCCTCCTCCCCCAGAAGTCTAGCATTTCTAGCTAAAACTCTGCGAGCTTTTAAGGGGAACTCCGGGGCGAGTGTCTTGGCGAAGCTGCCGTGTTTATTGGTGTCTGTATATAGAGCCCGGCCGAGCCCCGGTTCAGTTTTAAAGGCTTCGCCTGCTTTCTATAAACAATGAAAGAGGTAGCGAATACATCCAACGATTCAGAGTTTGACAATCGGGTGGGACCCTGGAGCCACTCCAAGGTCAGGGAGGGTGGGAATGAGGATTGGAGTAAAGATAAAGTCCAAGATCCCTGAAACCCAAAAACCTTCTAGACTCTGTCTTCTCTGGGTCTCTGTTTTCTGTTTTCTCCTTTCCCTCTTCTCTCTTTCCCTCATTACGAATCCAGATAGCACGGCCTCCCAAGCTCTTTATTCTTTCTATATGTGAGGTGGGAGAAATGCCCAGTTTCCGGGCTTGAACTTCTGGAGTATTTCCTCCATCCTAGGAGAGATCAATGGAGGAATCTCCTTGTGCCTCTTTAACCAGGATCTATCTTTCGCTCTCTCTCTCCTCTCCTCTCCTTTCTCTTCTTTCTCTATATTCCCTCTCCTTTTGCCCCTTTCCTTCCTTCTTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGGTTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGGGTTGCAACAACCACTTGAACCCACAGTGCTGTATTGTCTGCTTCTAATGCCATCAGCACAAGGCTATGGAGTGATCACCCACCATCAGGGTGCTCCGGAATGTCACTGAGGAGGACCGGAATAAGAAAAAACCAACCAAACAAACAAACCAAAAAAAAAAAACCAGAGCCAATTTCAATCCACTTCACCTGAGATGGGTGGGGGGGATAGATAAAAAACCTAATTTAGAAAAACTAGGAACCTAATCTAGAAAACCACTCAGAATATTCTCATGTAGACACTCAGATGCCCACACATCAAACATACAGATGTGCAAATACTTGCTTATTCTCGACCATGGTGAGTGCAAACCTGAACATACATGAATTTTGAAACCTAAAAATGTTTGTATTATCATATATTCTTACAGTCCAGAAGGATAATTAATCCTAAATATCTATATTAACAAACCTTCCAGGCTCTCTCTACAAGTAGTTCCATTCACATCCAGCTATTTTGATTATAGGACACGCCTGATGCCATTTAACATTTTGGCTTTCAGCTAAAACTAAATTTACAGAACCGATGCAAATGTATATATATACATATATATACATATGTGCACACACACATACATGCACACACAAACTCTTCATTTTGGAATAATTTACAACAGTCTAAAAAGTGGGTTTGCTTTTCCTTAAAAGAAAAAAAAAAATCCCTAAGTTTCCTAAACTGTGTTCACGCTCTCTGCTTCTCTACAAATATACACACGTTTTCCTGAAACTTAAAGGCCAAAGAGAGAAGCCGGGAAAAGCCAGGAAGGGATCGAAATCCCAAGGCAGGATTTTAGCCATGTGTAAGTGTCTCTTCTGGTCGTCACCCCGTTTCACCCCATGTGACACCTTATTTAAAAATTACCAGGATCTACTGAGGGGCCGACTTGAGCGCCCAGTGCGTCCTGGGTTTTGGGCGCAGAGCGCAAGGTGAGGCTCCTCCCTCTGCCTGGGCCCAGGTTGTAGCCTGGCGAACCCGAGGCTCCTGGTGCCCTCCGGGCAGAGCTCTGTGCGCTCCCAGCGGCCGGTGATGGCGCGCCAGCCAGCCAGGCCCCGACCGCAAGACAAATGGTGCGGCGCGCGGGTCTAGTCGGCGGCGCGGAGGAGGCAGGAGGAGGCAGGAGGAGGCGGGAGGAGGCGAAGGCTACGGAAGATCAGAAGAGGGGTCAAGCCATCGCTCATGCCGGCCTGAATCGGCCGCTGACCTGGCCCTTATTAAGATGCTGGGGGCCGATTCTACACATAGTGCAGAGGGAAAGGAATTATCTAGGCCATTGTTAGCTGACCCCAAACGGCCGGATAATTGAGATTTCTCGAACAATTTAAATAGATTTCAAAAATCCTTTGGCCGTAAAGATAACCGTCACAATAAAGTAGATGGCAATACGCTAGCATTTGGGGAGACAGGGCAGAGAAAGGTGGAACTGAGTGGGAATAAAAAGGAAAAGGGATGATTATAGTCGTTGGGTTCGTTTTGGGGTTTTTTTATTTTGTTTTTGTTCTGTCCCCGCAAGAGAAGCCGAGCAGGAAAGCCAGACTCTGACTTTGATCTCTGCAAAGGGACCCGAAGCGCGAGGTCTCCTTACCTGCTGGGTGAAGGCGGCCTGCGGGGACGACGGGGACTTGCTGGGGGCCCCGAGCGCGCTCTCGGGTTTCGAATCGCAGGGCAGGTCTTTTGCGTCAGGCTCCAGAGGCGTGTGCGCCAGGCCAAAGCCCTCGTCTGCGTCGGCCATGGTGCGCCCAGGGCCCTGTGCCCGCGCAAGGTTCTGCTCTGAGGACAAGAAGCAGG
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Task1_train_18816
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Here is a variant affecting TBX5 (T-box transcription factor 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Holt-Oram syndrome
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TCTCTATATTCCCTCTCCTTTTGCCCCTTTCCTTCCTTCTTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGGGTTGCAACAACCACTTGAACCCACAGTGCTGTATTGTCTGCTTCTAATGCCATCAGCACAAGGCTATGGAGTGATCACCCACCATCAGGGTGCTCCGGAATGTCACTGAGGAGGACCGGAATAAGAAAAAACCAACCAAACAAACAAACCAAAAAAAAAAAACCAGAGCCAATTTCAATCCACTTCACCTGAGATGGGTGGGGGGGATAGATAAAAAACCTAATTTAGAAAAACTAGGAACCTAATCTAGAAAACCACTCAGAATATTCTCATGTAGACACTCAGATGCCCACACATCAAACATACAGATGTGCAAATACTTGCTTATTCTCGACCATGGTGAGTGCAAACCTGAACATACATGAATTTTGAAACCTAAAAATGTTTGTATTATCATATATTCTTACAGTCCAGAAGGATAATTAATCCTAAATATCTATATTAACAAACCTTCCAGGCTCTCTCTACAAGTAGTTCCATTCACATCCAGCTATTTTGATTATAGGACACGCCTGATGCCATTTAACATTTTGGCTTTCAGCTAAAACTAAATTTACAGAACCGATGCAAATGTATATATATACATATATATACATATGTGCACACACACATACATGCACACACAAACTCTTCATTTTGGAATAATTTACAACAGTCTAAAAAGTGGGTTTGCTTTTCCTTAAAAGAAAAAAAAAAATCCCTAAGTTTCCTAAACTGTGTTCACGCTCTCTGCTTCTCTACAAATATACACACGTTTTCCTGAAACTTAAAGGCCAAAGAGAGAAGCCGGGAAAAGCCAGGAAGGGATCGAAATCCCAAGGCAGGATTTTAGCCATGTGTAAGTGTCTCTTCTGGTCGTCACCCCGTTTCACCCCATGTGACACCTTATTTAAAAATTACCAGGATCTACTGAGGGGCCGACTTGAGCGCCCAGTGCGTCCTGGGTTTTGGGCGCAGAGCGCAAGGTGAGGCTCCTCCCTCTGCCTGGGCCCAGGTTGTAGCCTGGCGAACCCGAGGCTCCTGGTGCCCTCCGGGCAGAGCTCTGTGCGCTCCCAGCGGCCGGTGATGGCGCGCCAGCCAGCCAGGCCCCGACCGCAAGACAAATGGTGCGGCGCGCGGGTCTAGTCGGCGGCGCGGAGGAGGCAGGAGGAGGCAGGAGGAGGCGGGAGGAGGCGAAGGCTACGGAAGATCAGAAGAGGGGTCAAGCCATCGCTCATGCCGGCCTGAATCGGCCGCTGACCTGGCCCTTATTAAGATGCTGGGGGCCGATTCTACACATAGTGCAGAGGGAAAGGAATTATCTAGGCCATTGTTAGCTGACCCCAAACGGCCGGATAATTGAGATTTCTCGAACAATTTAAATAGATTTCAAAAATCCTTTGGCCGTAAAGATAACCGTCACAATAAAGTAGATGGCAATACGCTAGCATTTGGGGAGACAGGGCAGAGAAAGGTGGAACTGAGTGGGAATAAAAAGGAAAAGGGATGATTATAGTCGTTGGGTTCGTTTTGGGGTTTTTTTATTTTGTTTTTGTTCTGTCCCCGCAAGAGAAGCCGAGCAGGAAAGCCAGACTCTGACTTTGATCTCTGCAAAGGGACCCGAAGCGCGAGGTCTCCTTACCTGCTGGGTGAAGGCGGCCTGCGGGGACGACGGGGACTTGCTGGGGGCCCCGAGCGCGCTCTCGGGTTTCGAATCGCAGGGCAGGTCTTTTGCGTCAGGCTCCAGAGGCGTGTGCGCCAGGCCAAAGCCCTCGTCTGCGTCGGCCATGGTGCGCCCAGGGCCCTGTGCCCGCGCAAGGTTCTGCTCTGAGGACAAGAAGCAGGGGGAGATGGGGGTGGGGAGGACAGAGAGAGAACGAGAGAAAGGTTGGAGAGCACAATTCTAGTGACAGGAGGGAGCAGTTTGGCCCCCAGTTTCCAGCTACCAGCACCTCCGTTCCCAGCCGAAGGTGACTGCAGAAGGCCCTAGAATTATTACTGTTACTAGTATTCCTAGTAGTATTACTATTACTTTATAAGCAGGCACAACTTCTTGCAAAAGACCCGCGTCAGACCCGGAGAAGGTGAGGCCCGCATCTCCCCTGCGCAGGCTCTCCGTGATAAGCAAGCTGCCCGTCAAATTTGTCTGGACTTCTGGAAGAGCCAATAAAGATAAGGCGTGGGTATTTTTGGAAGCCACTGGGTAGGAACCAAAAACAAAACAAAACAAAAACCCAGTGTCCTTTAGAGAATTTCTTTCTTCGCCAAATTACAAGATGCCGTCGAAACTCTTTTTATTAAACCTCACAAGAGGAATAGTTTTCTGCAGCAGGCAGAAATGTGTGAAATAACCCGCCTCTTGCAAAAAGAAAAACACAGAAGGGGAAGGTTGTGCAGATTGAGACTAGGTTCAAAAGAGAATTCATATACACCTTTTACCAGTTACAGGCCTTAACATTAAAAGTCCTTTAAAATTAAACATCCTTTTCTTTATCCCAACCTTAAGTAAGATTCGTTAAAAGATAAAAAGTAGCCAAACAGAAGACTAGATGAAGAAAGTCACCGTGCAGCCGTTCCGAGGAAGGCTCGTCACTGGGTGCCCGCCACCAGCGCTCTGATGCCGGGCGGGGGATGGCGGGCATTTTGTGGAGTGACCAGGCCGAAAGGGGTTTCTCTGAACTTCAGCCAGGCCTGGCCTGCTAAAACTGCAGGCTCAGGCTCAGGATTGGCGAGGACAAAATCATTCTCGGATAAGTCCTAGGCTGGAGACATTGAATCTGCAGCCCGGGTCCCCGCAATGCATAGAACGGCCCGGGTTTGCAGGCGTATGAGCTTAGAACACACAAAATAACTGCCGCAGAGCTGTTCAAGCCCGATGAGCCTGTCTCCTGCTCTCTGATCTCCTTCCAATCTCTTCTATACGCAAGTAGGAATTCCCCCTAGAACGGGAAGACTTTGGGAAGCGGGCACAAGCGATGGTCCCCCAAAACCTCAGCAGCTGCTTAAGCAAGCGGCCAGATCCCACCCTGACCTGCTGTGGCCAGAGATCTAGAAATGGGGCCGAGGAGAAGGACAGCTTCTGAGGCCTGACTTGCAAGCAGCTTTCTTCGCCTCGTTCTCGGGGCTTCAGGGAGGCGGCGACTGGAGCCCCGCTGCCTACTCACAACAAAAGAAAGCAGGGCTGGCGCCCCTACACGCGCTCCCATTCACTGCCGGCCGCGGGGAGAATCCTACCCCGCGCCCTCGCCAGGGTCCCGGGGAGCTCTGGGCTGGCGGAGGCGAACAAGATGCGGTTTGACAGAACCAGGCCGTGCTTCTGCAAACCTCAATGCCGCTCCGCCAGCCGCGGCGGCCTCCCAGACTCCATTTGCCGGGGAGCTCCGAGCCGCGCAAAATCTCTGCAAGCTGTGCTCTGCAGAATGCAAAGCCGGGCTGGAATCCGCCATTCCCGCCGCCCCAGCCGACTCGGCCGACGAGCTCCCTCCTGAGCCTCCCGGGCCATCTGCCGGGACGGTTACCTCGTTCGGTGAAGCCGGTGCATTCACCACATCCTCTGCTGCTCCTAGCAGGGAAGCCGGCGGTGAGGCGGGGGAGCAGGCATGGTGGCTCCGGGGTTTATGCGGGGTTTACTGCTTACCCAGAATAGCGGCTACTGCTGCCTACTAGGGCGCACCTACCGCTGGAGCCTCCGC
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TCTCTATATTCCCTCTCCTTTTGCCCCTTTCCTTCCTTCTTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGGGTTGCAACAACCACTTGAACCCACAGTGCTGTATTGTCTGCTTCTAATGCCATCAGCACAAGGCTATGGAGTGATCACCCACCATCAGGGTGCTCCGGAATGTCACTGAGGAGGACCGGAATAAGAAAAAACCAACCAAACAAACAAACCAAAAAAAAAAAACCAGAGCCAATTTCAATCCACTTCACCTGAGATGGGTGGGGGGGATAGATAAAAAACCTAATTTAGAAAAACTAGGAACCTAATCTAGAAAACCACTCAGAATATTCTCATGTAGACACTCAGATGCCCACACATCAAACATACAGATGTGCAAATACTTGCTTATTCTCGACCATGGTGAGTGCAAACCTGAACATACATGAATTTTGAAACCTAAAAATGTTTGTATTATCATATATTCTTACAGTCCAGAAGGATAATTAATCCTAAATATCTATATTAACAAACCTTCCAGGCTCTCTCTACAAGTAGTTCCATTCACATCCAGCTATTTTGATTATAGGACACGCCTGATGCCATTTAACATTTTGGCTTTCAGCTAAAACTAAATTTACAGAACCGATGCAAATGTATATATATACATATATATACATATGTGCACACACACATACATGCACACACAAACTCTTCATTTTGGAATAATTTACAACAGTCTAAAAAGTGGGTTTGCTTTTCCTTAAAAGAAAAAAAAAAATCCCTAAGTTTCCTAAACTGTGTTCACGCTCTCTGCTTCTCTACAAATATACACACGTTTTCCTGAAACTTAAAGGCCAAAGAGAGAAGCCGGGAAAAGCCAGGAAGGGATCGAAATCCCAAGGCAGGATTTTAGCCATGTGTAAGTGTCTCTTCTGGTCGTCACCCCGTTTCACCCCATGTGACACCTTATTTAAAAATTACCAGGATCTACTGAGGGGCCGACTTGAGCGCCCAGTGCGTCCTGGGTTTTGGGCGCAGAGCGCAAGGTGAGGCTCCTCCCTCTGCCTGGGCCCAGGTTGTAGCCTGGCGAACCCGAGGCTCCTGGTGCCCTCCGGGCAGAGCTCTGTGCGCTCCCAGCGGCCGGTGATGGCGCGCCAGCCAGCCAGGCCCCGACCGCAAGACAAATGGTGCGGCGCGCGGGTCTAGTCGGCGGCGCGGAGGAGGCAGGAGGAGGCAGGAGGAGGCGGGAGGAGGCGAAGGCTACGGAAGATCAGAAGAGGGGTCAAGCCATCGCTCATGCCGGCCTGAATCGGCCGCTGACCTGGCCCTTATTAAGATGCTGGGGGCCGATTCTACACATAGTGCAGAGGGAAAGGAATTATCTAGGCCATTGTTAGCTGACCCCAAACGGCCGGATAATTGAGATTTCTCGAACAATTTAAATAGATTTCAAAAATCCTTTGGCCGTAAAGATAACCGTCACAATAAAGTAGATGGCAATACGCTAGCATTTGGGGAGACAGGGCAGAGAAAGGTGGAACTGAGTGGGAATAAAAAGGAAAAGGGATGATTATAGTCGTTGGGTTCGTTTTGGGGTTTTTTTATTTTGTTTTTGTTCTGTCCCCGCAAGAGAAGCCGAGCAGGAAAGCCAGACTCTGACTTTGATCTCTGCAAAGGGACCCGAAGCGCGAGGTCTCCTTACCTTCTGGGTGAAGGCGGCCTGCGGGGACGACGGGGACTTGCTGGGGGCCCCGAGCGCGCTCTCGGGTTTCGAATCGCAGGGCAGGTCTTTTGCGTCAGGCTCCAGAGGCGTGTGCGCCAGGCCAAAGCCCTCGTCTGCGTCGGCCATGGTGCGCCCAGGGCCCTGTGCCCGCGCAAGGTTCTGCTCTGAGGACAAGAAGCAGGGGGAGATGGGGGTGGGGAGGACAGAGAGAGAACGAGAGAAAGGTTGGAGAGCACAATTCTAGTGACAGGAGGGAGCAGTTTGGCCCCCAGTTTCCAGCTACCAGCACCTCCGTTCCCAGCCGAAGGTGACTGCAGAAGGCCCTAGAATTATTACTGTTACTAGTATTCCTAGTAGTATTACTATTACTTTATAAGCAGGCACAACTTCTTGCAAAAGACCCGCGTCAGACCCGGAGAAGGTGAGGCCCGCATCTCCCCTGCGCAGGCTCTCCGTGATAAGCAAGCTGCCCGTCAAATTTGTCTGGACTTCTGGAAGAGCCAATAAAGATAAGGCGTGGGTATTTTTGGAAGCCACTGGGTAGGAACCAAAAACAAAACAAAACAAAAACCCAGTGTCCTTTAGAGAATTTCTTTCTTCGCCAAATTACAAGATGCCGTCGAAACTCTTTTTATTAAACCTCACAAGAGGAATAGTTTTCTGCAGCAGGCAGAAATGTGTGAAATAACCCGCCTCTTGCAAAAAGAAAAACACAGAAGGGGAAGGTTGTGCAGATTGAGACTAGGTTCAAAAGAGAATTCATATACACCTTTTACCAGTTACAGGCCTTAACATTAAAAGTCCTTTAAAATTAAACATCCTTTTCTTTATCCCAACCTTAAGTAAGATTCGTTAAAAGATAAAAAGTAGCCAAACAGAAGACTAGATGAAGAAAGTCACCGTGCAGCCGTTCCGAGGAAGGCTCGTCACTGGGTGCCCGCCACCAGCGCTCTGATGCCGGGCGGGGGATGGCGGGCATTTTGTGGAGTGACCAGGCCGAAAGGGGTTTCTCTGAACTTCAGCCAGGCCTGGCCTGCTAAAACTGCAGGCTCAGGCTCAGGATTGGCGAGGACAAAATCATTCTCGGATAAGTCCTAGGCTGGAGACATTGAATCTGCAGCCCGGGTCCCCGCAATGCATAGAACGGCCCGGGTTTGCAGGCGTATGAGCTTAGAACACACAAAATAACTGCCGCAGAGCTGTTCAAGCCCGATGAGCCTGTCTCCTGCTCTCTGATCTCCTTCCAATCTCTTCTATACGCAAGTAGGAATTCCCCCTAGAACGGGAAGACTTTGGGAAGCGGGCACAAGCGATGGTCCCCCAAAACCTCAGCAGCTGCTTAAGCAAGCGGCCAGATCCCACCCTGACCTGCTGTGGCCAGAGATCTAGAAATGGGGCCGAGGAGAAGGACAGCTTCTGAGGCCTGACTTGCAAGCAGCTTTCTTCGCCTCGTTCTCGGGGCTTCAGGGAGGCGGCGACTGGAGCCCCGCTGCCTACTCACAACAAAAGAAAGCAGGGCTGGCGCCCCTACACGCGCTCCCATTCACTGCCGGCCGCGGGGAGAATCCTACCCCGCGCCCTCGCCAGGGTCCCGGGGAGCTCTGGGCTGGCGGAGGCGAACAAGATGCGGTTTGACAGAACCAGGCCGTGCTTCTGCAAACCTCAATGCCGCTCCGCCAGCCGCGGCGGCCTCCCAGACTCCATTTGCCGGGGAGCTCCGAGCCGCGCAAAATCTCTGCAAGCTGTGCTCTGCAGAATGCAAAGCCGGGCTGGAATCCGCCATTCCCGCCGCCCCAGCCGACTCGGCCGACGAGCTCCCTCCTGAGCCTCCCGGGCCATCTGCCGGGACGGTTACCTCGTTCGGTGAAGCCGGTGCATTCACCACATCCTCTGCTGCTCCTAGCAGGGAAGCCGGCGGTGAGGCGGGGGAGCAGGCATGGTGGCTCCGGGGTTTATGCGGGGTTTACTGCTTACCCAGAATAGCGGCTACTGCTGCCTACTAGGGCGCACCTACCGCTGGAGCCTCCGC
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Task1_train_18817
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This alteration occurs within gene TBX5 (T-box transcription factor 5) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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AACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGGGTTGCAACAACCACTTGAACCCACAGTGCTGTATTGTCTGCTTCTAATGCCATCAGCACAAGGCTATGGAGTGATCACCCACCATCAGGGTGCTCCGGAATGTCACTGAGGAGGACCGGAATAAGAAAAAACCAACCAAACAAACAAACCAAAAAAAAAAAACCAGAGCCAATTTCAATCCACTTCACCTGAGATGGGTGGGGGGGATAGATAAAAAACCTAATTTAGAAAAACTAGGAACCTAATCTAGAAAACCACTCAGAATATTCTCATGTAGACACTCAGATGCCCACACATCAAACATACAGATGTGCAAATACTTGCTTATTCTCGACCATGGTGAGTGCAAACCTGAACATACATGAATTTTGAAACCTAAAAATGTTTGTATTATCATATATTCTTACAGTCCAGAAGGATAATTAATCCTAAATATCTATATTAACAAACCTTCCAGGCTCTCTCTACAAGTAGTTCCATTCACATCCAGCTATTTTGATTATAGGACACGCCTGATGCCATTTAACATTTTGGCTTTCAGCTAAAACTAAATTTACAGAACCGATGCAAATGTATATATATACATATATATACATATGTGCACACACACATACATGCACACACAAACTCTTCATTTTGGAATAATTTACAACAGTCTAAAAAGTGGGTTTGCTTTTCCTTAAAAGAAAAAAAAAAATCCCTAAGTTTCCTAAACTGTGTTCACGCTCTCTGCTTCTCTACAAATATACACACGTTTTCCTGAAACTTAAAGGCCAAAGAGAGAAGCCGGGAAAAGCCAGGAAGGGATCGAAATCCCAAGGCAGGATTTTAGCCATGTGTAAGTGTCTCTTCTGGTCGTCACCCCGTTTCACCCCATGTGACACCTTATTTAAAAATTACCAGGATCTACTGAGGGGCCGACTTGAGCGCCCAGTGCGTCCTGGGTTTTGGGCGCAGAGCGCAAGGTGAGGCTCCTCCCTCTGCCTGGGCCCAGGTTGTAGCCTGGCGAACCCGAGGCTCCTGGTGCCCTCCGGGCAGAGCTCTGTGCGCTCCCAGCGGCCGGTGATGGCGCGCCAGCCAGCCAGGCCCCGACCGCAAGACAAATGGTGCGGCGCGCGGGTCTAGTCGGCGGCGCGGAGGAGGCAGGAGGAGGCAGGAGGAGGCGGGAGGAGGCGAAGGCTACGGAAGATCAGAAGAGGGGTCAAGCCATCGCTCATGCCGGCCTGAATCGGCCGCTGACCTGGCCCTTATTAAGATGCTGGGGGCCGATTCTACACATAGTGCAGAGGGAAAGGAATTATCTAGGCCATTGTTAGCTGACCCCAAACGGCCGGATAATTGAGATTTCTCGAACAATTTAAATAGATTTCAAAAATCCTTTGGCCGTAAAGATAACCGTCACAATAAAGTAGATGGCAATACGCTAGCATTTGGGGAGACAGGGCAGAGAAAGGTGGAACTGAGTGGGAATAAAAAGGAAAAGGGATGATTATAGTCGTTGGGTTCGTTTTGGGGTTTTTTTATTTTGTTTTTGTTCTGTCCCCGCAAGAGAAGCCGAGCAGGAAAGCCAGACTCTGACTTTGATCTCTGCAAAGGGACCCGAAGCGCGAGGTCTCCTTACCTGCTGGGTGAAGGCGGCCTGCGGGGACGACGGGGACTTGCTGGGGGCCCCGAGCGCGCTCTCGGGTTTCGAATCGCAGGGCAGGTCTTTTGCGTCAGGCTCCAGAGGCGTGTGCGCCAGGCCAAAGCCCTCGTCTGCGTCGGCCATGGTGCGCCCAGGGCCCTGTGCCCGCGCAAGGTTCTGCTCTGAGGACAAGAAGCAGGGGGAGATGGGGGTGGGGAGGACAGAGAGAGAACGAGAGAAAGGTTGGAGAGCACAATTCTAGTGACAGGAGGGAGCAGTTTGGCCCCCAGTTTCCAGCTACCAGCACCTCCGTTCCCAGCCGAAGGTGACTGCAGAAGGCCCTAGAATTATTACTGTTACTAGTATTCCTAGTAGTATTACTATTACTTTATAAGCAGGCACAACTTCTTGCAAAAGACCCGCGTCAGACCCGGAGAAGGTGAGGCCCGCATCTCCCCTGCGCAGGCTCTCCGTGATAAGCAAGCTGCCCGTCAAATTTGTCTGGACTTCTGGAAGAGCCAATAAAGATAAGGCGTGGGTATTTTTGGAAGCCACTGGGTAGGAACCAAAAACAAAACAAAACAAAAACCCAGTGTCCTTTAGAGAATTTCTTTCTTCGCCAAATTACAAGATGCCGTCGAAACTCTTTTTATTAAACCTCACAAGAGGAATAGTTTTCTGCAGCAGGCAGAAATGTGTGAAATAACCCGCCTCTTGCAAAAAGAAAAACACAGAAGGGGAAGGTTGTGCAGATTGAGACTAGGTTCAAAAGAGAATTCATATACACCTTTTACCAGTTACAGGCCTTAACATTAAAAGTCCTTTAAAATTAAACATCCTTTTCTTTATCCCAACCTTAAGTAAGATTCGTTAAAAGATAAAAAGTAGCCAAACAGAAGACTAGATGAAGAAAGTCACCGTGCAGCCGTTCCGAGGAAGGCTCGTCACTGGGTGCCCGCCACCAGCGCTCTGATGCCGGGCGGGGGATGGCGGGCATTTTGTGGAGTGACCAGGCCGAAAGGGGTTTCTCTGAACTTCAGCCAGGCCTGGCCTGCTAAAACTGCAGGCTCAGGCTCAGGATTGGCGAGGACAAAATCATTCTCGGATAAGTCCTAGGCTGGAGACATTGAATCTGCAGCCCGGGTCCCCGCAATGCATAGAACGGCCCGGGTTTGCAGGCGTATGAGCTTAGAACACACAAAATAACTGCCGCAGAGCTGTTCAAGCCCGATGAGCCTGTCTCCTGCTCTCTGATCTCCTTCCAATCTCTTCTATACGCAAGTAGGAATTCCCCCTAGAACGGGAAGACTTTGGGAAGCGGGCACAAGCGATGGTCCCCCAAAACCTCAGCAGCTGCTTAAGCAAGCGGCCAGATCCCACCCTGACCTGCTGTGGCCAGAGATCTAGAAATGGGGCCGAGGAGAAGGACAGCTTCTGAGGCCTGACTTGCAAGCAGCTTTCTTCGCCTCGTTCTCGGGGCTTCAGGGAGGCGGCGACTGGAGCCCCGCTGCCTACTCACAACAAAAGAAAGCAGGGCTGGCGCCCCTACACGCGCTCCCATTCACTGCCGGCCGCGGGGAGAATCCTACCCCGCGCCCTCGCCAGGGTCCCGGGGAGCTCTGGGCTGGCGGAGGCGAACAAGATGCGGTTTGACAGAACCAGGCCGTGCTTCTGCAAACCTCAATGCCGCTCCGCCAGCCGCGGCGGCCTCCCAGACTCCATTTGCCGGGGAGCTCCGAGCCGCGCAAAATCTCTGCAAGCTGTGCTCTGCAGAATGCAAAGCCGGGCTGGAATCCGCCATTCCCGCCGCCCCAGCCGACTCGGCCGACGAGCTCCCTCCTGAGCCTCCCGGGCCATCTGCCGGGACGGTTACCTCGTTCGGTGAAGCCGGTGCATTCACCACATCCTCTGCTGCTCCTAGCAGGGAAGCCGGCGGTGAGGCGGGGGAGCAGGCATGGTGGCTCCGGGGTTTATGCGGGGTTTACTGCTTACCCAGAATAGCGGCTACTGCTGCCTACTAGGGCGCACCTACCGCTGGAGCCTCCGCGGCGACTGCCCACCTCCAACACACACCTCCTCTGCTGTGCGCTTGCTCTCCCTAAATACTTCCCAGTTGGCAAGCGCCAAAGAACACAAAATAGCCTCCAAGAGC
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AACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGGGTTGCAACAACCACTTGAACCCACAGTGCTGTATTGTCTGCTTCTAATGCCATCAGCACAAGGCTATGGAGTGATCACCCACCATCAGGGTGCTCCGGAATGTCACTGAGGAGGACCGGAATAAGAAAAAACCAACCAAACAAACAAACCAAAAAAAAAAAACCAGAGCCAATTTCAATCCACTTCACCTGAGATGGGTGGGGGGGATAGATAAAAAACCTAATTTAGAAAAACTAGGAACCTAATCTAGAAAACCACTCAGAATATTCTCATGTAGACACTCAGATGCCCACACATCAAACATACAGATGTGCAAATACTTGCTTATTCTCGACCATGGTGAGTGCAAACCTGAACATACATGAATTTTGAAACCTAAAAATGTTTGTATTATCATATATTCTTACAGTCCAGAAGGATAATTAATCCTAAATATCTATATTAACAAACCTTCCAGGCTCTCTCTACAAGTAGTTCCATTCACATCCAGCTATTTTGATTATAGGACACGCCTGATGCCATTTAACATTTTGGCTTTCAGCTAAAACTAAATTTACAGAACCGATGCAAATGTATATATATACATATATATACATATGTGCACACACACATACATGCACACACAAACTCTTCATTTTGGAATAATTTACAACAGTCTAAAAAGTGGGTTTGCTTTTCCTTAAAAGAAAAAAAAAAATCCCTAAGTTTCCTAAACTGTGTTCACGCTCTCTGCTTCTCTACAAATATACACACGTTTTCCTGAAACTTAAAGGCCAAAGAGAGAAGCCGGGAAAAGCCAGGAAGGGATCGAAATCCCAAGGCAGGATTTTAGCCATGTGTAAGTGTCTCTTCTGGTCGTCACCCCGTTTCACCCCATGTGACACCTTATTTAAAAATTACCAGGATCTACTGAGGGGCCGACTTGAGCGCCCAGTGCGTCCTGGGTTTTGGGCGCAGAGCGCAAGGTGAGGCTCCTCCCTCTGCCTGGGCCCAGGTTGTAGCCTGGCGAACCCGAGGCTCCTGGTGCCCTCCGGGCAGAGCTCTGTGCGCTCCCAGCGGCCGGTGATGGCGCGCCAGCCAGCCAGGCCCCGACCGCAAGACAAATGGTGCGGCGCGCGGGTCTAGTCGGCGGCGCGGAGGAGGCAGGAGGAGGCAGGAGGAGGCGGGAGGAGGCGAAGGCTACGGAAGATCAGAAGAGGGGTCAAGCCATCGCTCATGCCGGCCTGAATCGGCCGCTGACCTGGCCCTTATTAAGATGCTGGGGGCCGATTCTACACATAGTGCAGAGGGAAAGGAATTATCTAGGCCATTGTTAGCTGACCCCAAACGGCCGGATAATTGAGATTTCTCGAACAATTTAAATAGATTTCAAAAATCCTTTGGCCGTAAAGATAACCGTCACAATAAAGTAGATGGCAATACGCTAGCATTTGGGGAGACAGGGCAGAGAAAGGTGGAACTGAGTGGGAATAAAAAGGAAAAGGGATGATTATAGTCGTTGGGTTCGTTTTGGGGTTTTTTTATTTTGTTTTTGTTCTGTCCCCGCAAGAGAAGCCGAGCAGGAAAGCCAGACTCTGACTTTGATCTCTGCAAAGGGACCCGAAGCGCGAGGTCTCCTTACCTGCTGGGTGAAGGCGGCCTGCGGGGACGACGGGGACTTGCTGGGGGCCCCGAGCGCGCTCTCGGGTTTCGAATCGCAGGGCAGGTCTTTTGCGTCAGGCTCCAGAGTCGTGTGCGCCAGGCCAAAGCCCTCGTCTGCGTCGGCCATGGTGCGCCCAGGGCCCTGTGCCCGCGCAAGGTTCTGCTCTGAGGACAAGAAGCAGGGGGAGATGGGGGTGGGGAGGACAGAGAGAGAACGAGAGAAAGGTTGGAGAGCACAATTCTAGTGACAGGAGGGAGCAGTTTGGCCCCCAGTTTCCAGCTACCAGCACCTCCGTTCCCAGCCGAAGGTGACTGCAGAAGGCCCTAGAATTATTACTGTTACTAGTATTCCTAGTAGTATTACTATTACTTTATAAGCAGGCACAACTTCTTGCAAAAGACCCGCGTCAGACCCGGAGAAGGTGAGGCCCGCATCTCCCCTGCGCAGGCTCTCCGTGATAAGCAAGCTGCCCGTCAAATTTGTCTGGACTTCTGGAAGAGCCAATAAAGATAAGGCGTGGGTATTTTTGGAAGCCACTGGGTAGGAACCAAAAACAAAACAAAACAAAAACCCAGTGTCCTTTAGAGAATTTCTTTCTTCGCCAAATTACAAGATGCCGTCGAAACTCTTTTTATTAAACCTCACAAGAGGAATAGTTTTCTGCAGCAGGCAGAAATGTGTGAAATAACCCGCCTCTTGCAAAAAGAAAAACACAGAAGGGGAAGGTTGTGCAGATTGAGACTAGGTTCAAAAGAGAATTCATATACACCTTTTACCAGTTACAGGCCTTAACATTAAAAGTCCTTTAAAATTAAACATCCTTTTCTTTATCCCAACCTTAAGTAAGATTCGTTAAAAGATAAAAAGTAGCCAAACAGAAGACTAGATGAAGAAAGTCACCGTGCAGCCGTTCCGAGGAAGGCTCGTCACTGGGTGCCCGCCACCAGCGCTCTGATGCCGGGCGGGGGATGGCGGGCATTTTGTGGAGTGACCAGGCCGAAAGGGGTTTCTCTGAACTTCAGCCAGGCCTGGCCTGCTAAAACTGCAGGCTCAGGCTCAGGATTGGCGAGGACAAAATCATTCTCGGATAAGTCCTAGGCTGGAGACATTGAATCTGCAGCCCGGGTCCCCGCAATGCATAGAACGGCCCGGGTTTGCAGGCGTATGAGCTTAGAACACACAAAATAACTGCCGCAGAGCTGTTCAAGCCCGATGAGCCTGTCTCCTGCTCTCTGATCTCCTTCCAATCTCTTCTATACGCAAGTAGGAATTCCCCCTAGAACGGGAAGACTTTGGGAAGCGGGCACAAGCGATGGTCCCCCAAAACCTCAGCAGCTGCTTAAGCAAGCGGCCAGATCCCACCCTGACCTGCTGTGGCCAGAGATCTAGAAATGGGGCCGAGGAGAAGGACAGCTTCTGAGGCCTGACTTGCAAGCAGCTTTCTTCGCCTCGTTCTCGGGGCTTCAGGGAGGCGGCGACTGGAGCCCCGCTGCCTACTCACAACAAAAGAAAGCAGGGCTGGCGCCCCTACACGCGCTCCCATTCACTGCCGGCCGCGGGGAGAATCCTACCCCGCGCCCTCGCCAGGGTCCCGGGGAGCTCTGGGCTGGCGGAGGCGAACAAGATGCGGTTTGACAGAACCAGGCCGTGCTTCTGCAAACCTCAATGCCGCTCCGCCAGCCGCGGCGGCCTCCCAGACTCCATTTGCCGGGGAGCTCCGAGCCGCGCAAAATCTCTGCAAGCTGTGCTCTGCAGAATGCAAAGCCGGGCTGGAATCCGCCATTCCCGCCGCCCCAGCCGACTCGGCCGACGAGCTCCCTCCTGAGCCTCCCGGGCCATCTGCCGGGACGGTTACCTCGTTCGGTGAAGCCGGTGCATTCACCACATCCTCTGCTGCTCCTAGCAGGGAAGCCGGCGGTGAGGCGGGGGAGCAGGCATGGTGGCTCCGGGGTTTATGCGGGGTTTACTGCTTACCCAGAATAGCGGCTACTGCTGCCTACTAGGGCGCACCTACCGCTGGAGCCTCCGCGGCGACTGCCCACCTCCAACACACACCTCCTCTGCTGTGCGCTTGCTCTCCCTAAATACTTCCCAGTTGGCAAGCGCCAAAGAACACAAAATAGCCTCCAAGAGC
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Task1_train_18818
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Here is a mutation in MED13L (mediator complex subunit 13L) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Cardiac anomalies - developmental delay - facial dysmorphism syndrome
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AGCGTTGTACTGCTCCAAAACAAACCTGCCAAAGAGAACACACAGAGCAGGGGCGTGAGCCTCAAGAGGGAAGGCTGGTTCTCAGATTCTAATACATTCCAGATCTTAGCAGGAAGGAGGTCTCAAAGGCATTCCTTAACTTGCCCCAGGCTCTTTCCCTCATCCTTTGTCTCATGTTCCTCCTTCCTTCTAGATATGGACTATCCAGTACAGTAGCCAGCAGCCACACATGGCCATTGAGCTCCGCCAGTGAGGCCAGTAGGAACTTGCGTGGACTGCAGGTAAAGTAGGCACTGGAGCCCAAACACTTAGGGGCCAGGTGCAGTGGCTCACGCCTGGAATCCCAGCAACTTTGGGAGGCCGAGGTGGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGGTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGTCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGTGGGCGGAGGTTGCAGTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCGTCTCCAAAAAAAAAAGAAAAAGAAAACGAAAAAAAGAAAAGTATGTAAAATATTTCATGAATATTTTTATATTGTTACATGTTGAAATAACATTTTGAGTATATTGAGTTAAATAAAATATATTACTAAAATTAACCAGTTTCTTTTTACTATTTTAATGTGGCTAACAGAAAAATTTTAATTAGATTTGAGGTTCACATTGTATTTCTATTGGACAGTGTTCCTCTAGGGCAGCAGTCTCCAACCTTTTTTGGCACCAGGGACCAGTTTCGTGGAAGACAATTTTTCCACGTGGTGGGGGATGGTTTCAGGATGAAACTGTTCCACCTTAAATCATTAGGAGTCTCATAAAGAGTACACAACCTAGATCCCTTGCATGTGCGGTTCACAATAGGGTTTGTGCCCCTATGAGAATCTAATGTCATTGCCTGACAGGAGGCGGAGCACAGGCTGTAATGCTCGCTCACTTGCTACTTACCGCATGCTGTGGGGCCTGGTTCCTAACAAGGCATGGACGGGGGTTGGGGACCCCTGCTCTAGGGGGCCTGGAAGCCAAATTTATGTTGATCAGGTTCTTTATTTTTATCCATAACTATAATTATACATTAATCTATAATATATAGTTTCCTATCATTTCCTAACCATTTAAGAGTTAGAAAACATTAGAAAAGGCCTGTATATTTTCTCAAGGTAGATGAAGAATGCCTGTGGCTTGATTAATACACACTTCTGGAATGCACTTCTCAACTATGTCATTTATGTTCTAGTCCATTTTTAAAAAAACACATAATCGGTGGCTCATGCCTGTAATCTCAGCACTCTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGATCGAGATCATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATTCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGTTTGCAGTGAGCTGAGATCACGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCGAATAAACAAACAAAAATACATAATCTATCTCAGGAAGCATAAAAAGTGTTTTCAATGTGAGGTGCTTTAAGAGTTCCAGACACTGTCTTCTAACTATCCACCCCCAAGATCTGACCTCTCTTCATCACCATGAAGTGCCTGCTCTGAACAGGAAGCAAAGGCAACTATAAATGCCTATCACTGCCTAACTGAATCCAATGTATTACACCGCCTGTCCCATGCAGCTATGAGGGACTGCAGCTCTCACTGACTCATCAGATACTGTATCACTGCACAAACGGCAGCTTCTATGAATACCACACTTAGATTAAAACACCTTGGAAAGACAACAGTAAAGGAATATTGTTTCAAATTGCACTGCTATGATGCCTAGGTTGGTATCTACCTTAAAACATCCGACGTGGTTTTGGAGTCAAGAGGGTGTGGAACCCGCTGAGAATTCCTGGCAGGCAGAAGTTCGTCTGTCTGTGCTACTGAAATGTGGTGATGCAGCGAAGCCTGGTGAAAAAACAAAGAGAGTTACCTCTCTGGTCTAGACAATCACAGTGCAGAAGTGAGGGAGGCCATGTCTGCCAGAAGCAGATGCTCCCAAAAGTCCGTAGAAGTCAGGGTTTCTGTGAGTCTACAAATTTTAACCTGCTCAGTAACCCCCAAGGTAATCCCAAATAACTTCTTATCCTAGAGTTGGAAAAAAACAAAAAAAAAGCAAACTTTTTGGGCTTTTTTTGTCTACTACATTTTGTTTCTTCAATGGAAATAGTCTAGCACACACAAAAATACTATAATATATAATAAGGTCCCATGAATTGATATCGCCAAGATGCAACAATTATCAATATTCACCACTTTTCTGTTTTCATTTTCTTTTTCTGAATTAAACACAAATATTACCATCTCTATAAAACATTAAAAAAAAATAGCTGGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGAAGGCTGAAGCTGGAAGATTGCTTGAGCCTGGGAGGATGAGGATGCAGTGAGCTGTGATTGCACCACTGTGCTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAAGAAACAAACAAACCAACCCCCAAAAAACCCTCCCCACAAAAAAACAAATATTGTATTATTTTGCTTGTAAAAAGTCAGTAGATGTCTCACATAAGGACCTTTAAACATAACAGTAATTATCACAGAAAAATTAACAATGATTCCTTAATATTATCACCCCATCTGTAGGATAATGAGGAAGATAATGCTCCATTATCTCAAAAATGTCTTTTTATAATTGGTTTACTAAAATCATGAGCCAACATGATCTGTACATGACAAATGATTAAAGGCATGAAATGTCTACTGTCCCACTTGAAGTCACATGATTCATCACTGGGTTCAGGTGATACCAGGACACTACATCCATCATAAAGTTCCTCATCAACTTTTCACCTAATGGTTTTGGTATTACTTTACATGTAAAGGAGAGGCAACATATAAATGCTTCTTTCTCTTTATTTTTTTATTTTTCAGACTGAGTTGATGCTCTAGCAACAAATGATGACTGATTTTTTGTTTGTTTTCCAACACAATTATGAACCAAGGATTTGTTTCATTCTATCACTGTCATCATTTTTTTTAATGATCACACTGTCCCATCCTATCCCTGGACAACAGAGCTGCCCCCTAAGATGGCTCCTGAGGCCCTGCTGGACCATAATAATCTTTGGTAACTTTCTTCCTTTTAGGTGTGACAAGATGCCTCAGGTTCATTGTGAATATTTCCTGCTGCATATCTGGAATCAGTCATCTCTTCAAAGAACCACAGTTCCTTTAAATGACAACGGTGTGCAGGAACCACATTCGTGGCAACAGAGGTGTTTATTGCTGCTAAGCTTTTTCAGCAGACAGAGCTAAAAAAATGTGTATACTTTTTTAGAGAGGAAAAATAAATCTATGCTCATATTGATAATTCTAATTCAAAATAAAGAACACATGCATTTTTATAAACCTTCTTTGATTTTATAATAGTATGTTAAAGTCATTAGGAAAAGAACATTGCTTCACTGTCTAATAAGTTTTTGGTTTAATTTCCATCGTTTCTTTCTGAAAATATACACAGCTATGTGTGTACGTGTATATGTGTGTGAATGTGCATATCTTATAGATTACTCCATGGTAATCTCTACTCCACAGAATGATTACATAGAAATGGTCTCCATTTTGTTGTAGATGATTAATATTTCACTGTCTGGATGCACCACAGTTGATTCAATCAGTCCCTCACTGATGACACTTAGGTTCTTTCTAGTCTTGGACATATGTCATTTTCTGTTTTGGCAAAGAACCTTTGGGCTATTCCTTAGAGGTGGGATTGCTGCCCTGAAAGGGAAGTGTGTAGGGCTATATCATTCAGCAATCCCACCAACACCAGGGCCTGCTCCCCACATC
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AGCGTTGTACTGCTCCAAAACAAACCTGCCAAAGAGAACACACAGAGCAGGGGCGTGAGCCTCAAGAGGGAAGGCTGGTTCTCAGATTCTAATACATTCCAGATCTTAGCAGGAAGGAGGTCTCAAAGGCATTCCTTAACTTGCCCCAGGCTCTTTCCCTCATCCTTTGTCTCATGTTCCTCCTTCCTTCTAGATATGGACTATCCAGTACAGTAGCCAGCAGCCACACATGGCCATTGAGCTCCGCCAGTGAGGCCAGTAGGAACTTGCGTGGACTGCAGGTAAAGTAGGCACTGGAGCCCAAACACTTAGGGGCCAGGTGCAGTGGCTCACGCCTGGAATCCCAGCAACTTTGGGAGGCCGAGGTGGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGGTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGTCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGTGGGCGGAGGTTGCAGTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCGTCTCCAAAAAAAAAAGAAAAAGAAAACGAAAAAAAGAAAAGTATGTAAAATATTTCATGAATATTTTTATATTGTTACATGTTGAAATAACATTTTGAGTATATTGAGTTAAATAAAATATATTACTAAAATTAACCAGTTTCTTTTTACTATTTTAATGTGGCTAACAGAAAAATTTTAATTAGATTTGAGGTTCACATTGTATTTCTATTGGACAGTGTTCCTCTAGGGCAGCAGTCTCCAACCTTTTTTGGCACCAGGGACCAGTTTCGTGGAAGACAATTTTTCCACGTGGTGGGGGATGGTTTCAGGATGAAACTGTTCCACCTTAAATCATTAGGAGTCTCATAAAGAGTACACAACCTAGATCCCTTGCATGTGCGGTTCACAATAGGGTTTGTGCCCCTATGAGAATCTAATGTCATTGCCTGACAGGAGGCGGAGCACAGGCTGTAATGCTCGCTCACTTGCTACTTACCGCATGCTGTGGGGCCTGGTTCCTAACAAGGCATGGACGGGGGTTGGGGACCCCTGCTCTAGGGGGCCTGGAAGCCAAATTTATGTTGATCAGGTTCTTTATTTTTATCCATAACTATAATTATACATTAATCTATAATATATAGTTTCCTATCATTTCCTAACCATTTAAGAGTTAGAAAACATTAGAAAAGGCCTGTATATTTTCTCAAGGTAGATGAAGAATGCCTGTGGCTTGATTAATACACACTTCTGGAATGCACTTCTCAACTATGTCATTTATGTTCTAGTCCATTTTTAAAAAAACACATAATCGGTGGCTCATGCCTGTAATCTCAGCACTCTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGATCGAGATCATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATTCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGTTTGCAGTGAGCTGAGATCACGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCGAATAAACAAACAAAAATACATAATCTATCTCAGGAAGCATAAAAAGTGTTTTCAATGTGAGGTGCTTTAAGAGTTCCAGACACTGTCTTCTAACTATCCACCCCCAAGATCTGACCTCTCTTCATCACCATGAAGTGCCTGCTCTGAACAGGAAGCAAAGGCAACTATAAATGCCTATCACTGCCTAACTGAATCCAATGTATTACACCGCCTGTCCCATGCAGCTATGAGGGACTGCAGCTCTCACTGACTCATCAGATACTGTATCACTGCACAAACGGCAGCTTCTATGAATACCACACTTAGATTAAAACACCTTGGAAAGACAACAGTAAAGGAATATTGTTTCAAATTGCACTGCTATGATGCCTAGGTTGGTATCTACCTTAAAACATCCGACATGGTTTTGGAGTCAAGAGGGTGTGGAACCCGCTGAGAATTCCTGGCAGGCAGAAGTTCGTCTGTCTGTGCTACTGAAATGTGGTGATGCAGCGAAGCCTGGTGAAAAAACAAAGAGAGTTACCTCTCTGGTCTAGACAATCACAGTGCAGAAGTGAGGGAGGCCATGTCTGCCAGAAGCAGATGCTCCCAAAAGTCCGTAGAAGTCAGGGTTTCTGTGAGTCTACAAATTTTAACCTGCTCAGTAACCCCCAAGGTAATCCCAAATAACTTCTTATCCTAGAGTTGGAAAAAAACAAAAAAAAAGCAAACTTTTTGGGCTTTTTTTGTCTACTACATTTTGTTTCTTCAATGGAAATAGTCTAGCACACACAAAAATACTATAATATATAATAAGGTCCCATGAATTGATATCGCCAAGATGCAACAATTATCAATATTCACCACTTTTCTGTTTTCATTTTCTTTTTCTGAATTAAACACAAATATTACCATCTCTATAAAACATTAAAAAAAAATAGCTGGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGAAGGCTGAAGCTGGAAGATTGCTTGAGCCTGGGAGGATGAGGATGCAGTGAGCTGTGATTGCACCACTGTGCTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAAGAAACAAACAAACCAACCCCCAAAAAACCCTCCCCACAAAAAAACAAATATTGTATTATTTTGCTTGTAAAAAGTCAGTAGATGTCTCACATAAGGACCTTTAAACATAACAGTAATTATCACAGAAAAATTAACAATGATTCCTTAATATTATCACCCCATCTGTAGGATAATGAGGAAGATAATGCTCCATTATCTCAAAAATGTCTTTTTATAATTGGTTTACTAAAATCATGAGCCAACATGATCTGTACATGACAAATGATTAAAGGCATGAAATGTCTACTGTCCCACTTGAAGTCACATGATTCATCACTGGGTTCAGGTGATACCAGGACACTACATCCATCATAAAGTTCCTCATCAACTTTTCACCTAATGGTTTTGGTATTACTTTACATGTAAAGGAGAGGCAACATATAAATGCTTCTTTCTCTTTATTTTTTTATTTTTCAGACTGAGTTGATGCTCTAGCAACAAATGATGACTGATTTTTTGTTTGTTTTCCAACACAATTATGAACCAAGGATTTGTTTCATTCTATCACTGTCATCATTTTTTTTAATGATCACACTGTCCCATCCTATCCCTGGACAACAGAGCTGCCCCCTAAGATGGCTCCTGAGGCCCTGCTGGACCATAATAATCTTTGGTAACTTTCTTCCTTTTAGGTGTGACAAGATGCCTCAGGTTCATTGTGAATATTTCCTGCTGCATATCTGGAATCAGTCATCTCTTCAAAGAACCACAGTTCCTTTAAATGACAACGGTGTGCAGGAACCACATTCGTGGCAACAGAGGTGTTTATTGCTGCTAAGCTTTTTCAGCAGACAGAGCTAAAAAAATGTGTATACTTTTTTAGAGAGGAAAAATAAATCTATGCTCATATTGATAATTCTAATTCAAAATAAAGAACACATGCATTTTTATAAACCTTCTTTGATTTTATAATAGTATGTTAAAGTCATTAGGAAAAGAACATTGCTTCACTGTCTAATAAGTTTTTGGTTTAATTTCCATCGTTTCTTTCTGAAAATATACACAGCTATGTGTGTACGTGTATATGTGTGTGAATGTGCATATCTTATAGATTACTCCATGGTAATCTCTACTCCACAGAATGATTACATAGAAATGGTCTCCATTTTGTTGTAGATGATTAATATTTCACTGTCTGGATGCACCACAGTTGATTCAATCAGTCCCTCACTGATGACACTTAGGTTCTTTCTAGTCTTGGACATATGTCATTTTCTGTTTTGGCAAAGAACCTTTGGGCTATTCCTTAGAGGTGGGATTGCTGCCCTGAAAGGGAAGTGTGTAGGGCTATATCATTCAGCAATCCCACCAACACCAGGGCCTGCTCCCCACATC
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Task1_train_18819
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A variant has been detected on Chromosome 12 in MED13L (mediator complex subunit 13L). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Transposition of the great arteries, dextro-looped
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AGCGTTGTACTGCTCCAAAACAAACCTGCCAAAGAGAACACACAGAGCAGGGGCGTGAGCCTCAAGAGGGAAGGCTGGTTCTCAGATTCTAATACATTCCAGATCTTAGCAGGAAGGAGGTCTCAAAGGCATTCCTTAACTTGCCCCAGGCTCTTTCCCTCATCCTTTGTCTCATGTTCCTCCTTCCTTCTAGATATGGACTATCCAGTACAGTAGCCAGCAGCCACACATGGCCATTGAGCTCCGCCAGTGAGGCCAGTAGGAACTTGCGTGGACTGCAGGTAAAGTAGGCACTGGAGCCCAAACACTTAGGGGCCAGGTGCAGTGGCTCACGCCTGGAATCCCAGCAACTTTGGGAGGCCGAGGTGGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGGTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGTCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGTGGGCGGAGGTTGCAGTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCGTCTCCAAAAAAAAAAGAAAAAGAAAACGAAAAAAAGAAAAGTATGTAAAATATTTCATGAATATTTTTATATTGTTACATGTTGAAATAACATTTTGAGTATATTGAGTTAAATAAAATATATTACTAAAATTAACCAGTTTCTTTTTACTATTTTAATGTGGCTAACAGAAAAATTTTAATTAGATTTGAGGTTCACATTGTATTTCTATTGGACAGTGTTCCTCTAGGGCAGCAGTCTCCAACCTTTTTTGGCACCAGGGACCAGTTTCGTGGAAGACAATTTTTCCACGTGGTGGGGGATGGTTTCAGGATGAAACTGTTCCACCTTAAATCATTAGGAGTCTCATAAAGAGTACACAACCTAGATCCCTTGCATGTGCGGTTCACAATAGGGTTTGTGCCCCTATGAGAATCTAATGTCATTGCCTGACAGGAGGCGGAGCACAGGCTGTAATGCTCGCTCACTTGCTACTTACCGCATGCTGTGGGGCCTGGTTCCTAACAAGGCATGGACGGGGGTTGGGGACCCCTGCTCTAGGGGGCCTGGAAGCCAAATTTATGTTGATCAGGTTCTTTATTTTTATCCATAACTATAATTATACATTAATCTATAATATATAGTTTCCTATCATTTCCTAACCATTTAAGAGTTAGAAAACATTAGAAAAGGCCTGTATATTTTCTCAAGGTAGATGAAGAATGCCTGTGGCTTGATTAATACACACTTCTGGAATGCACTTCTCAACTATGTCATTTATGTTCTAGTCCATTTTTAAAAAAACACATAATCGGTGGCTCATGCCTGTAATCTCAGCACTCTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGATCGAGATCATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATTCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGTTTGCAGTGAGCTGAGATCACGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCGAATAAACAAACAAAAATACATAATCTATCTCAGGAAGCATAAAAAGTGTTTTCAATGTGAGGTGCTTTAAGAGTTCCAGACACTGTCTTCTAACTATCCACCCCCAAGATCTGACCTCTCTTCATCACCATGAAGTGCCTGCTCTGAACAGGAAGCAAAGGCAACTATAAATGCCTATCACTGCCTAACTGAATCCAATGTATTACACCGCCTGTCCCATGCAGCTATGAGGGACTGCAGCTCTCACTGACTCATCAGATACTGTATCACTGCACAAACGGCAGCTTCTATGAATACCACACTTAGATTAAAACACCTTGGAAAGACAACAGTAAAGGAATATTGTTTCAAATTGCACTGCTATGATGCCTAGGTTGGTATCTACCTTAAAACATCCGACGTGGTTTTGGAGTCAAGAGGGTGTGGAACCCGCTGAGAATTCCTGGCAGGCAGAAGTTCGTCTGTCTGTGCTACTGAAATGTGGTGATGCAGCGAAGCCTGGTGAAAAAACAAAGAGAGTTACCTCTCTGGTCTAGACAATCACAGTGCAGAAGTGAGGGAGGCCATGTCTGCCAGAAGCAGATGCTCCCAAAAGTCCGTAGAAGTCAGGGTTTCTGTGAGTCTACAAATTTTAACCTGCTCAGTAACCCCCAAGGTAATCCCAAATAACTTCTTATCCTAGAGTTGGAAAAAAACAAAAAAAAAGCAAACTTTTTGGGCTTTTTTTGTCTACTACATTTTGTTTCTTCAATGGAAATAGTCTAGCACACACAAAAATACTATAATATATAATAAGGTCCCATGAATTGATATCGCCAAGATGCAACAATTATCAATATTCACCACTTTTCTGTTTTCATTTTCTTTTTCTGAATTAAACACAAATATTACCATCTCTATAAAACATTAAAAAAAAATAGCTGGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGAAGGCTGAAGCTGGAAGATTGCTTGAGCCTGGGAGGATGAGGATGCAGTGAGCTGTGATTGCACCACTGTGCTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAAGAAACAAACAAACCAACCCCCAAAAAACCCTCCCCACAAAAAAACAAATATTGTATTATTTTGCTTGTAAAAAGTCAGTAGATGTCTCACATAAGGACCTTTAAACATAACAGTAATTATCACAGAAAAATTAACAATGATTCCTTAATATTATCACCCCATCTGTAGGATAATGAGGAAGATAATGCTCCATTATCTCAAAAATGTCTTTTTATAATTGGTTTACTAAAATCATGAGCCAACATGATCTGTACATGACAAATGATTAAAGGCATGAAATGTCTACTGTCCCACTTGAAGTCACATGATTCATCACTGGGTTCAGGTGATACCAGGACACTACATCCATCATAAAGTTCCTCATCAACTTTTCACCTAATGGTTTTGGTATTACTTTACATGTAAAGGAGAGGCAACATATAAATGCTTCTTTCTCTTTATTTTTTTATTTTTCAGACTGAGTTGATGCTCTAGCAACAAATGATGACTGATTTTTTGTTTGTTTTCCAACACAATTATGAACCAAGGATTTGTTTCATTCTATCACTGTCATCATTTTTTTTAATGATCACACTGTCCCATCCTATCCCTGGACAACAGAGCTGCCCCCTAAGATGGCTCCTGAGGCCCTGCTGGACCATAATAATCTTTGGTAACTTTCTTCCTTTTAGGTGTGACAAGATGCCTCAGGTTCATTGTGAATATTTCCTGCTGCATATCTGGAATCAGTCATCTCTTCAAAGAACCACAGTTCCTTTAAATGACAACGGTGTGCAGGAACCACATTCGTGGCAACAGAGGTGTTTATTGCTGCTAAGCTTTTTCAGCAGACAGAGCTAAAAAAATGTGTATACTTTTTTAGAGAGGAAAAATAAATCTATGCTCATATTGATAATTCTAATTCAAAATAAAGAACACATGCATTTTTATAAACCTTCTTTGATTTTATAATAGTATGTTAAAGTCATTAGGAAAAGAACATTGCTTCACTGTCTAATAAGTTTTTGGTTTAATTTCCATCGTTTCTTTCTGAAAATATACACAGCTATGTGTGTACGTGTATATGTGTGTGAATGTGCATATCTTATAGATTACTCCATGGTAATCTCTACTCCACAGAATGATTACATAGAAATGGTCTCCATTTTGTTGTAGATGATTAATATTTCACTGTCTGGATGCACCACAGTTGATTCAATCAGTCCCTCACTGATGACACTTAGGTTCTTTCTAGTCTTGGACATATGTCATTTTCTGTTTTGGCAAAGAACCTTTGGGCTATTCCTTAGAGGTGGGATTGCTGCCCTGAAAGGGAAGTGTGTAGGGCTATATCATTCAGCAATCCCACCAACACCAGGGCCTGCTCCCCACATC
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AGCGTTGTACTGCTCCAAAACAAACCTGCCAAAGAGAACACACAGAGCAGGGGCGTGAGCCTCAAGAGGGAAGGCTGGTTCTCAGATTCTAATACATTCCAGATCTTAGCAGGAAGGAGGTCTCAAAGGCATTCCTTAACTTGCCCCAGGCTCTTTCCCTCATCCTTTGTCTCATGTTCCTCCTTCCTTCTAGATATGGACTATCCAGTACAGTAGCCAGCAGCCACACATGGCCATTGAGCTCCGCCAGTGAGGCCAGTAGGAACTTGCGTGGACTGCAGGTAAAGTAGGCACTGGAGCCCAAACACTTAGGGGCCAGGTGCAGTGGCTCACGCCTGGAATCCCAGCAACTTTGGGAGGCCGAGGTGGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGGTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGTCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGTGGGCGGAGGTTGCAGTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCGTCTCCAAAAAAAAAAGAAAAAGAAAACGAAAAAAAGAAAAGTATGTAAAATATTTCATGAATATTTTTATATTGTTACATGTTGAAATAACATTTTGAGTATATTGAGTTAAATAAAATATATTACTAAAATTAACCAGTTTCTTTTTACTATTTTAATGTGGCTAACAGAAAAATTTTAATTAGATTTGAGGTTCACATTGTATTTCTATTGGACAGTGTTCCTCTAGGGCAGCAGTCTCCAACCTTTTTTGGCACCAGGGACCAGTTTCGTGGAAGACAATTTTTCCACGTGGTGGGGGATGGTTTCAGGATGAAACTGTTCCACCTTAAATCATTAGGAGTCTCATAAAGAGTACACAACCTAGATCCCTTGCATGTGCGGTTCACAATAGGGTTTGTGCCCCTATGAGAATCTAATGTCATTGCCTGACAGGAGGCGGAGCACAGGCTGTAATGCTCGCTCACTTGCTACTTACCGCATGCTGTGGGGCCTGGTTCCTAACAAGGCATGGACGGGGGTTGGGGACCCCTGCTCTAGGGGGCCTGGAAGCCAAATTTATGTTGATCAGGTTCTTTATTTTTATCCATAACTATAATTATACATTAATCTATAATATATAGTTTCCTATCATTTCCTAACCATTTAAGAGTTAGAAAACATTAGAAAAGGCCTGTATATTTTCTCAAGGTAGATGAAGAATGCCTGTGGCTTGATTAATACACACTTCTGGAATGCACTTCTCAACTATGTCATTTATGTTCTAGTCCATTTTTAAAAAAACACATAATCGGTGGCTCATGCCTGTAATCTCAGCACTCTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGATCGAGATCATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATTCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGTTTGCAGTGAGCTGAGATCACGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCGAATAAACAAACAAAAATACATAATCTATCTCAGGAAGCATAAAAAGTGTTTTCAATGTGAGGTGCTTTAAGAGTTCCAGACACTGTCTTCTAACTATCCACCCCCAAGATCTGACCTCTCTTCATCACCATGAAGTGCCTGCTCTGAACAGGAAGCAAAGGCAACTATAAATGCCTATCACTGCCTAACTGAATCCAATGTATTACACCGCCTGTCCCATGCAGCTATGAGGGACTGCAGCTCTCACTGACTCATCAGATACTGTATCACTGCACAAACGGCAGCTTCTATGAATACCACACTTAGATTAAAACACCTTGGAAAGACAACAGTAAAGGAATATTGTTTCAAATTGCACTGCTATGATGCCTAGGTTGGTATCTACCTTAAAACATCCGACATGGTTTTGGAGTCAAGAGGGTGTGGAACCCGCTGAGAATTCCTGGCAGGCAGAAGTTCGTCTGTCTGTGCTACTGAAATGTGGTGATGCAGCGAAGCCTGGTGAAAAAACAAAGAGAGTTACCTCTCTGGTCTAGACAATCACAGTGCAGAAGTGAGGGAGGCCATGTCTGCCAGAAGCAGATGCTCCCAAAAGTCCGTAGAAGTCAGGGTTTCTGTGAGTCTACAAATTTTAACCTGCTCAGTAACCCCCAAGGTAATCCCAAATAACTTCTTATCCTAGAGTTGGAAAAAAACAAAAAAAAAGCAAACTTTTTGGGCTTTTTTTGTCTACTACATTTTGTTTCTTCAATGGAAATAGTCTAGCACACACAAAAATACTATAATATATAATAAGGTCCCATGAATTGATATCGCCAAGATGCAACAATTATCAATATTCACCACTTTTCTGTTTTCATTTTCTTTTTCTGAATTAAACACAAATATTACCATCTCTATAAAACATTAAAAAAAAATAGCTGGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGAAGGCTGAAGCTGGAAGATTGCTTGAGCCTGGGAGGATGAGGATGCAGTGAGCTGTGATTGCACCACTGTGCTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAAGAAACAAACAAACCAACCCCCAAAAAACCCTCCCCACAAAAAAACAAATATTGTATTATTTTGCTTGTAAAAAGTCAGTAGATGTCTCACATAAGGACCTTTAAACATAACAGTAATTATCACAGAAAAATTAACAATGATTCCTTAATATTATCACCCCATCTGTAGGATAATGAGGAAGATAATGCTCCATTATCTCAAAAATGTCTTTTTATAATTGGTTTACTAAAATCATGAGCCAACATGATCTGTACATGACAAATGATTAAAGGCATGAAATGTCTACTGTCCCACTTGAAGTCACATGATTCATCACTGGGTTCAGGTGATACCAGGACACTACATCCATCATAAAGTTCCTCATCAACTTTTCACCTAATGGTTTTGGTATTACTTTACATGTAAAGGAGAGGCAACATATAAATGCTTCTTTCTCTTTATTTTTTTATTTTTCAGACTGAGTTGATGCTCTAGCAACAAATGATGACTGATTTTTTGTTTGTTTTCCAACACAATTATGAACCAAGGATTTGTTTCATTCTATCACTGTCATCATTTTTTTTAATGATCACACTGTCCCATCCTATCCCTGGACAACAGAGCTGCCCCCTAAGATGGCTCCTGAGGCCCTGCTGGACCATAATAATCTTTGGTAACTTTCTTCCTTTTAGGTGTGACAAGATGCCTCAGGTTCATTGTGAATATTTCCTGCTGCATATCTGGAATCAGTCATCTCTTCAAAGAACCACAGTTCCTTTAAATGACAACGGTGTGCAGGAACCACATTCGTGGCAACAGAGGTGTTTATTGCTGCTAAGCTTTTTCAGCAGACAGAGCTAAAAAAATGTGTATACTTTTTTAGAGAGGAAAAATAAATCTATGCTCATATTGATAATTCTAATTCAAAATAAAGAACACATGCATTTTTATAAACCTTCTTTGATTTTATAATAGTATGTTAAAGTCATTAGGAAAAGAACATTGCTTCACTGTCTAATAAGTTTTTGGTTTAATTTCCATCGTTTCTTTCTGAAAATATACACAGCTATGTGTGTACGTGTATATGTGTGTGAATGTGCATATCTTATAGATTACTCCATGGTAATCTCTACTCCACAGAATGATTACATAGAAATGGTCTCCATTTTGTTGTAGATGATTAATATTTCACTGTCTGGATGCACCACAGTTGATTCAATCAGTCCCTCACTGATGACACTTAGGTTCTTTCTAGTCTTGGACATATGTCATTTTCTGTTTTGGCAAAGAACCTTTGGGCTATTCCTTAGAGGTGGGATTGCTGCCCTGAAAGGGAAGTGTGTAGGGCTATATCATTCAGCAATCCCACCAACACCAGGGCCTGCTCCCCACATC
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Task1_train_18820
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Mutation context: Chromosome 12, Gene MED13L (mediator complex subunit 13L). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Inborn genetic diseases
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AAATATTGTATTATTTTGCTTGTAAAAAGTCAGTAGATGTCTCACATAAGGACCTTTAAACATAACAGTAATTATCACAGAAAAATTAACAATGATTCCTTAATATTATCACCCCATCTGTAGGATAATGAGGAAGATAATGCTCCATTATCTCAAAAATGTCTTTTTATAATTGGTTTACTAAAATCATGAGCCAACATGATCTGTACATGACAAATGATTAAAGGCATGAAATGTCTACTGTCCCACTTGAAGTCACATGATTCATCACTGGGTTCAGGTGATACCAGGACACTACATCCATCATAAAGTTCCTCATCAACTTTTCACCTAATGGTTTTGGTATTACTTTACATGTAAAGGAGAGGCAACATATAAATGCTTCTTTCTCTTTATTTTTTTATTTTTCAGACTGAGTTGATGCTCTAGCAACAAATGATGACTGATTTTTTGTTTGTTTTCCAACACAATTATGAACCAAGGATTTGTTTCATTCTATCACTGTCATCATTTTTTTTAATGATCACACTGTCCCATCCTATCCCTGGACAACAGAGCTGCCCCCTAAGATGGCTCCTGAGGCCCTGCTGGACCATAATAATCTTTGGTAACTTTCTTCCTTTTAGGTGTGACAAGATGCCTCAGGTTCATTGTGAATATTTCCTGCTGCATATCTGGAATCAGTCATCTCTTCAAAGAACCACAGTTCCTTTAAATGACAACGGTGTGCAGGAACCACATTCGTGGCAACAGAGGTGTTTATTGCTGCTAAGCTTTTTCAGCAGACAGAGCTAAAAAAATGTGTATACTTTTTTAGAGAGGAAAAATAAATCTATGCTCATATTGATAATTCTAATTCAAAATAAAGAACACATGCATTTTTATAAACCTTCTTTGATTTTATAATAGTATGTTAAAGTCATTAGGAAAAGAACATTGCTTCACTGTCTAATAAGTTTTTGGTTTAATTTCCATCGTTTCTTTCTGAAAATATACACAGCTATGTGTGTACGTGTATATGTGTGTGAATGTGCATATCTTATAGATTACTCCATGGTAATCTCTACTCCACAGAATGATTACATAGAAATGGTCTCCATTTTGTTGTAGATGATTAATATTTCACTGTCTGGATGCACCACAGTTGATTCAATCAGTCCCTCACTGATGACACTTAGGTTCTTTCTAGTCTTGGACATATGTCATTTTCTGTTTTGGCAAAGAACCTTTGGGCTATTCCTTAGAGGTGGGATTGCTGCCCTGAAAGGGAAGTGTGTAGGGCTATATCATTCAGCAATCCCACCAACACCAGGGCCTGCTCCCCACATCTGGCCAACACAGTATGCTGCCAAATCTTTGTATTTTTGCCAATCTGTGGGCAAGAGATGGATTTCATTCTAGGTATTGCTGTTTTTAACATAAACTGCAAGTAGGGGATCTTTTGTTTTGAACCCTTAAAATTGGGATTAAAAGGTTCCAAGAAATATAAAGGAAGGAGCAAGTGTAAATGTGCGATGTTTTTAGCTGACTCTTACTCTTCTCTAATGAAGAATGTGAAGAGTCCCTGGCAGGGGAAGAAGAGGATGGCTGGTTATTATACCTTCGACACAGGCTTAACTTTACTGATAGTGATGCAATATAGACTTGGAGAAAGACCATCACATTGAACCCCATGCATCCATCCTAGATTTACCCTCTGGGCCCCACTGTTTCCTCCTTGGGCTACAGTGATTCATTTCTTTGTGACATGGTTTTGGGTCCTCCTAAATTCTACTCTCCACCTACAACTGTAATTAAAATTTCCTCAGAGTATAAGTAGATACAAGAGAAAAAAGGAACAGAATAAGATTATGGTGACTAAAACTGAAATTTCTAACCAAAATTAAATTTAAGCGTAAATCACTCATTCCTTGCAAACTTCTAATATGACACCAAACCAACCTTTAAGAAGAGAGGGCACTGGTTTTGAGCCTGGGGACACGATGACCAAAACCACTGGGGAAGATTCTCAGCTTTGGCAGTTGATACAAAATACCCAAGGGCCAGGGGCTGCTGCTTTAGCTCCTCTGGTGCTTCTCTAGAAAGAAGACGCTCACCCTGGCTCTGAAAAACAAAAATCCCAAAAACATGATCAGCATTTATCTTAAAGCTTGAAAAATGAACTTTCATCAGTTCACTCTGCACACTGCAGTGAGTGATCCCCTTTGTGGCAGCATCTCACAGAAAACAACAGGTGACTGAGAAAGGTAAGCGGGGCCAGCATCGTCTTTGCTGCACACATAGAGAAGATACCAGCAAAACTGACAGCCTCAGTCAAGTAAGTACAGATTTATTTGCTTGGGTTTCTTTTCTAAGGGATGTAAGATCTATTTCATGGCATTATGATGTAACAAACTAAAATGGAAAGATTACAATCTCTGACAGCAGAAGGCTCTACCACACGCAGGTGCTCTTTCACCAGCAACCAGCCAAAGACACACAAGCGCACCAGCCTGACCAGGACAATGTGACACCAGTATGTGCACAGCACAAAAGTTCCTGAGCTGCCAGTAGTGCAAGATCTGCTCACAGAGAAGCCATGTTTTCATTTGCAGCATTCCCCTTAATAAGAGACTCCTGGAAGAGGCTATGTTTTGCTGCAACTGACACTTTTCTTATCTTTTAATTCTTTTAGCTAGCTTCATCAATTGAAAATGTACCTTTCATGCAAGCAATAAGTAATGCATTTGTTTTTAAAAGTCTCTGTTTATGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCTGAGGCGGACAGATCACTTGAGGTCAGAATTTCGAGACCTGCCTGGCGAACATGGTGAAACCCCACTCTACTAAAAATACAAAAATTAGCCAGGCACAGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCTTGAGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCTTCTGTTTGGAAGGAAAAAATAATCTGCAGCTACTACATCAAACTGTATCAATTCTGAGTTGGTTAAAAAAATAAAAAATTTACTGCCACTTTGAACGCATTCTCTTCCCTGCTGTAATGTCTTAACTGGATATCAAAGAATGTTTAATGGTTCAGAAAAAGGAAATGCTGAAAGCCTCTTGGAGGTCACCTGGCTGCAGGTGCTCAGGATTGAAAAAGGCCACCTGGCTAGCTTCAGAACAGCACTGTCTAAATCATGGCATTGAATTAAAGACTTTAGTGCTTAAGGCTCCAAAAAAAGGGAGAAATACAGCATACCTCTGTTTCTTACACAACTAACATTACAACTTCAATAACCAATTCTTTGTTAATGCATAAACTGAATTACAAAAACAGGTACTGGGAGGTAGTTGCTATTATTCCATTTCACAGATAAGGTAACTCAGGCTAAGAGAGGTGAAGTTAGCTTGTCCAAGGTCACAAAGCCCGTAGGCCCAGAGCTGCAATTCAAAGTTGTCTTTAACAGACTGTGGGGCATGCATTCTTAGCTGCTATGCTACTTGCCTCCAGAATTCAAATTAAACCCAACTTTAAAAAAATAGACAATGTAACATTTGTGTTTTTCGTTCCTATCACAACCGTTTCCCATGAACAAATTATCATTAACTGGTAAGTACTGCAAAGGAAACAAAGACCCTTAAAACCCCTTCCTTCCAGAAGAGGGTAATAGGGGCAGGTATAACATGGGAACAGTCTGAGATGCCCTCCTCTGGTCTTACCTGCTCTGTGACTAATCTAAGCTATAAACCTTTTTTCTCTCCAGCGTCTAATAAATTCAGTGCTGGGAATAAAAGTCCCCCCCCCCCCCCGATGAAAACTGAAGTCCTTTATGTCCATCTTTGTGTCTAAATAAATGAGTGTGAGCAGGCTGCTTATGCTTGTTCAGTCTAAGATACCAGACATAGCTATTTTTCAAAGTCTTAACTCCCCAGTCTCATAACATTTTAAATAAACAGTACAATACAGTGATGCAGCAGG
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AAATATTGTATTATTTTGCTTGTAAAAAGTCAGTAGATGTCTCACATAAGGACCTTTAAACATAACAGTAATTATCACAGAAAAATTAACAATGATTCCTTAATATTATCACCCCATCTGTAGGATAATGAGGAAGATAATGCTCCATTATCTCAAAAATGTCTTTTTATAATTGGTTTACTAAAATCATGAGCCAACATGATCTGTACATGACAAATGATTAAAGGCATGAAATGTCTACTGTCCCACTTGAAGTCACATGATTCATCACTGGGTTCAGGTGATACCAGGACACTACATCCATCATAAAGTTCCTCATCAACTTTTCACCTAATGGTTTTGGTATTACTTTACATGTAAAGGAGAGGCAACATATAAATGCTTCTTTCTCTTTATTTTTTTATTTTTCAGACTGAGTTGATGCTCTAGCAACAAATGATGACTGATTTTTTGTTTGTTTTCCAACACAATTATGAACCAAGGATTTGTTTCATTCTATCACTGTCATCATTTTTTTTAATGATCACACTGTCCCATCCTATCCCTGGACAACAGAGCTGCCCCCTAAGATGGCTCCTGAGGCCCTGCTGGACCATAATAATCTTTGGTAACTTTCTTCCTTTTAGGTGTGACAAGATGCCTCAGGTTCATTGTGAATATTTCCTGCTGCATATCTGGAATCAGTCATCTCTTCAAAGAACCACAGTTCCTTTAAATGACAACGGTGTGCAGGAACCACATTCGTGGCAACAGAGGTGTTTATTGCTGCTAAGCTTTTTCAGCAGACAGAGCTAAAAAAATGTGTATACTTTTTTAGAGAGGAAAAATAAATCTATGCTCATATTGATAATTCTAATTCAAAATAAAGAACACATGCATTTTTATAAACCTTCTTTGATTTTATAATAGTATGTTAAAGTCATTAGGAAAAGAACATTGCTTCACTGTCTAATAAGTTTTTGGTTTAATTTCCATCGTTTCTTTCTGAAAATATACACAGCTATGTGTGTACGTGTATATGTGTGTGAATGTGCATATCTTATAGATTACTCCATGGTAATCTCTACTCCACAGAATGATTACATAGAAATGGTCTCCATTTTGTTGTAGATGATTAATATTTCACTGTCTGGATGCACCACAGTTGATTCAATCAGTCCCTCACTGATGACACTTAGGTTCTTTCTAGTCTTGGACATATGTCATTTTCTGTTTTGGCAAAGAACCTTTGGGCTATTCCTTAGAGGTGGGATTGCTGCCCTGAAAGGGAAGTGTGTAGGGCTATATCATTCAGCAATCCCACCAACACCAGGGCCTGCTCCCCACATCTGGCCAACACAGTATGCTGCCAAATCTTTGTATTTTTGCCAATCTGTGGGCAAGAGATGGATTTCATTCTAGGTATTGCTGTTTTTAACATAAACTGCAAGTAGGGGATCTTTTGTTTTGAACCCTTAAAATTGGGATTAAAAGGTTCCAAGAAATATAAAGGAAGGAGCAAGTGTAAATGTGCGATGTTTTTAGCTGACTCTTACTCTTCTCTAATGAAGAATGTGAAGAGTCCCTGGCAGGGGAAGAAGAGGATGGCTGGTTATTATACCTTCGACACAGGCTTAACTTTACTGATAGTGATGCAATATAGACTTGGAGAAAGACCATCACATTGAACCCCATGCATCCATCCTAGATTTACCCTCTGGGCCCCACTGTTTCCTCCTTGGGCTACAGTGATTCATTTCTTTGTGACATGGTTTTGGGTCCTCCTAAATTCTACTCTCCACCTACAACTGTAATTAAAATTTCCTCAGAGTATAAGTAGATACAAGAGAAAAAAGGAACAGAATAAGATTATGGTGACTAAAACTGAAATTTCTAACCAAAATTAAATTTAAGCGTAAATCACTCATTCCTTGCAAACTTCTAATATGACACCAAACCAACCTTTAAGAAGAGAGGGCACTGGTTTTGAGCCTGGGGACACGATGACCAAAACCACTGGGGAAGATTCTCAGCTTTGGCAGTTGATACAAAATACCCAAGGGCCAGGGTCTGCTGCTTTAGCTCCTCTGGTGCTTCTCTAGAAAGAAGACGCTCACCCTGGCTCTGAAAAACAAAAATCCCAAAAACATGATCAGCATTTATCTTAAAGCTTGAAAAATGAACTTTCATCAGTTCACTCTGCACACTGCAGTGAGTGATCCCCTTTGTGGCAGCATCTCACAGAAAACAACAGGTGACTGAGAAAGGTAAGCGGGGCCAGCATCGTCTTTGCTGCACACATAGAGAAGATACCAGCAAAACTGACAGCCTCAGTCAAGTAAGTACAGATTTATTTGCTTGGGTTTCTTTTCTAAGGGATGTAAGATCTATTTCATGGCATTATGATGTAACAAACTAAAATGGAAAGATTACAATCTCTGACAGCAGAAGGCTCTACCACACGCAGGTGCTCTTTCACCAGCAACCAGCCAAAGACACACAAGCGCACCAGCCTGACCAGGACAATGTGACACCAGTATGTGCACAGCACAAAAGTTCCTGAGCTGCCAGTAGTGCAAGATCTGCTCACAGAGAAGCCATGTTTTCATTTGCAGCATTCCCCTTAATAAGAGACTCCTGGAAGAGGCTATGTTTTGCTGCAACTGACACTTTTCTTATCTTTTAATTCTTTTAGCTAGCTTCATCAATTGAAAATGTACCTTTCATGCAAGCAATAAGTAATGCATTTGTTTTTAAAAGTCTCTGTTTATGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGTGAGGCTGAGGCGGACAGATCACTTGAGGTCAGAATTTCGAGACCTGCCTGGCGAACATGGTGAAACCCCACTCTACTAAAAATACAAAAATTAGCCAGGCACAGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCTTGAGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCTTCTGTTTGGAAGGAAAAAATAATCTGCAGCTACTACATCAAACTGTATCAATTCTGAGTTGGTTAAAAAAATAAAAAATTTACTGCCACTTTGAACGCATTCTCTTCCCTGCTGTAATGTCTTAACTGGATATCAAAGAATGTTTAATGGTTCAGAAAAAGGAAATGCTGAAAGCCTCTTGGAGGTCACCTGGCTGCAGGTGCTCAGGATTGAAAAAGGCCACCTGGCTAGCTTCAGAACAGCACTGTCTAAATCATGGCATTGAATTAAAGACTTTAGTGCTTAAGGCTCCAAAAAAAGGGAGAAATACAGCATACCTCTGTTTCTTACACAACTAACATTACAACTTCAATAACCAATTCTTTGTTAATGCATAAACTGAATTACAAAAACAGGTACTGGGAGGTAGTTGCTATTATTCCATTTCACAGATAAGGTAACTCAGGCTAAGAGAGGTGAAGTTAGCTTGTCCAAGGTCACAAAGCCCGTAGGCCCAGAGCTGCAATTCAAAGTTGTCTTTAACAGACTGTGGGGCATGCATTCTTAGCTGCTATGCTACTTGCCTCCAGAATTCAAATTAAACCCAACTTTAAAAAAATAGACAATGTAACATTTGTGTTTTTCGTTCCTATCACAACCGTTTCCCATGAACAAATTATCATTAACTGGTAAGTACTGCAAAGGAAACAAAGACCCTTAAAACCCCTTCCTTCCAGAAGAGGGTAATAGGGGCAGGTATAACATGGGAACAGTCTGAGATGCCCTCCTCTGGTCTTACCTGCTCTGTGACTAATCTAAGCTATAAACCTTTTTTCTCTCCAGCGTCTAATAAATTCAGTGCTGGGAATAAAAGTCCCCCCCCCCCCCCGATGAAAACTGAAGTCCTTTATGTCCATCTTTGTGTCTAAATAAATGAGTGTGAGCAGGCTGCTTATGCTTGTTCAGTCTAAGATACCAGACATAGCTATTTTTCAAAGTCTTAACTCCCCAGTCTCATAACATTTTAAATAAACAGTACAATACAGTGATGCAGCAGG
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Task1_train_18821
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This sequence change occurs on Chromosome 12, altering MED13L (mediator complex subunit 13L). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; not provided
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CTTCATCACATAAAGTTGTATAATAGAGCCAGTTAAGAATACAAAGAATCTTTGGGATGGCAAATGAAAGATGTAATAGATCTAAATAATGACCTAAATGATTTAAACGATTACACAGCAAAAGCTTGCATGTGACCTTTTTGGGGAAACCTGTATGTATGAAAGAGATTAAACTGCTGAATGGGTTCTTAAAACTGCTATGTCATTTATTGGCAACTGTATGTGCTAAGCTAACCCCTTATGCGCCAAGGTGTTCTAGGTGTGTTGTGCCAGGATCTAGCTGAGTAAGCTAGAGTACAATCGGAGCACAGCAGCAGCACACCAGCCAGGCGCTCAGGGTGCTTTTCAGCACACTCTTTATACTGCTGGTGCATTGTTATTTCCACGGTACTTCTACAGTCATTAGTCGTTGAAGCATTGTGGAAGTCCTGTGCGGGAGGCAGAGCAGGATTACTCCATTTTAAAGGGAAGACCCACGTAAAATGGTCATTTAAGGTCATGCATATAATTTTTGCAAGGCAGGAATTTCAGTCTTATTAATACTGCAAGTGTAGCTTCCTAAGTCTAGGATTCCTCTGTACTTTTCTGTCACCGTTTTTCTTTCTGACACTGACTTTATATACACAAGCAGGAAGTCTTGTTACGACATTAAAATTAACTTCATCAGGATGATTTTACAGAAGGTCACAAACTTGCAGCCCAGAGGCTGAGGCTGGACCACAAATTTGTTTTATTGGTTCCTTAAGCTCAGCACAATGGTGCTGAGCATCAGTAGTACCAACTCTTTTGCATTTACCCTGTCCATTTCATCTATATATTGCTTACCTGACCACAGCAGAAATCTGAATTTGTGGCCTTTTCTATCAATCAAATCACTTTATTTATTAAGAAATTATTCATCACAGGGAAAACTGATTCCATCATTGTTTAGCCTATCTGTTTGTTTTTGTGACAGGGTCTTGCTCTGTCGACCAGGCTGGAGTGCAGTAGTGCAATCTTGGCTCACTGCAACCTCCGCCTCGTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGTCACAGACACACACCATCATGCCCAACTAAATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCATTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCATCCACCTCGGCCTCCCAAAAGTGTTGGGATTACGGTTTGAGCCACCGCACCCGGCCCTAGCCTATCTTCAACATATTCAGAACACTTACATTGGCCTACCATTGGGGAAATCATCTAACTCAAAGCCTGTTTTACAATAAAGTGCTGACTATCTCGTGTAATTTATCAAATACTGTACTGAAAGTAAAAAACAGATCGGTTGTATGGGTTCTCAAAGTACAGCATGTCCTGAACGTGTATTACTTTTACATCATCAAAAAGTCAAAAACTCCTGAGTAAATCCACTGTAAGTCAGGGACTGTCTGCATACAAAATTTCATTTAGAAAATAATGCACATTTTCCAGCACAAAATAATTTGCACAAAAACATGAACGACCAATAAAGGAAAGTTTCAAATGATATGCTACTTGTCATCATTTTTTCTTTCTTTTTTTTCTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGACTCCTGCCACCAAGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGACCTTGTCATCATTTTTAACAAACATTTAGTTAAGATAAAAATTGCATCAAATATGGCAAGTAAATGACACAATCCCTATACATACTTGTAGCCATCTCTAATGAAAGTGGCTGCAGGGGGCATGGGCAGTTGTTCAATTTTAGGAGGAATTGCCCATGAAGGCCGAAACAGACAGGCATCAGGTATCTTCAGAGGTAGCAAACAATGGCTCGGCAACATCTTCAGTGGAGCAAACATGGAGGATCCCACAAAAGGTTGAAAGGATGGAACTTTGTGCACATATGAAAAGTCCTGTGACAACAAAGTGGGGTCAGTGTTAATATTGGTAAACTCTGTAGAACACACCACAGTGGCATAGTGCTATCATAAAAACAGCAACCAAAATGATCGTATTTCAGTATTTCTCTCCTATGATCATTAGAAAATGCTAATGCAGAAATGTTAAATCAATCAAAAGACACTATTTAATATGCCTGCTGGTGTGCCTCATGTTCTAATTAAAAGGATTCTTAGGAACTTATGTATATATGGCACACAGACAATACCATTTTAAAGCAGATGTATGTGAATCCACTTGGAAACTGCTCTGCCCTGGAAATGTTAATATATTGACAACTACCTTAATTTCCTCGGGCTTGGGACTTCCTAATCCATCTTCCACTTCCATTTTGAATTCTGTGAGTTGTGTTGAAACCATACTGACCATAGGGCTCTCCATCATGCCTAATGCTGTCACTGTCTCTGAGCTGATCCCATCTTTATAATTCATCACAGGAGAAAATGCAGGATGCTGTTCCAAAGATGGTGGAGTGGGAAACATCCTTTGCAAGTCTGCAACTGCTAAAAATAAGAAATAAAAAAAATTTGTTTAATAGGAAGGGCTTCTAAAAAGTCCTAGCTTATAGCCAGGCGCACTCTTTGGCACCAAAAATAGTGCTAATTAAATGATCACATCAGTTCACAAAAGAATATTAATAATGGAAGTGACTAAGAAGAAGGCCATCAGCAGAGAATTATCTTTTTCTGGGTCTTGTTTTGTTTTGTTTCGTGAGACAAAGTATCACTGTATCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGACTCACTGTAACCTCTGCCTTCCTCGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGAAACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGGCCCGCCTGCCTCGTACTCCCCAAGCGCTGGGATGGCAGGTGTGAGCCACTGTGCCTGGACTTTTCTTGGTCTTTATCACTAACTTCTTGATGCTTTATGGTCTGGCTTCACATTAATTAAGTAAACAAAGTCTACATAACTTGTATGTTTCTTCCAACAACTGATTCCCTGAAAAGTCTAAGGAGAGGAATTAAACAGAAAGTGGAAGCAATTAGATAGTTACCACTACTAAAGTTCTATCCCTGCTTTCAAGTATGTATAAAATATTACAAAAAATAAAAATTGTTTGGAGCTGATTACTCAGCTAGTTTGACAAATCCACTACACTTACAGCTGCTCTTTTGGGGAAACTCACAGCTGCTCTTTTGGGGAAACAGTTCCATATTTTTTCCAGACAGATATTAAAATGAAACTTCAAAGTTTCTTTTAAGAAATACTTAGAACAGCGGTTCTGAACTCCTTCTTTAAAAAAAAAGTTTCCTTTAATACACCTGTAGTAAAAAATTATCACTACAGTAGTTCATTAAGGCACTGATTCTTAAAAAGTAGACCTATTGAAAAGTTGTAGTTGTAAAATTTGGCCACTAGGGGGTGGCCTATGCAGCAAATTTTTTAAGTTTGGAGCCACAGGTTTTTAAATCAGTGATTTAATGTCCCAGTTTCCTATCCTATTGCTCTTTCCAACAACTTCAAGATTTAAACAGACCAATAATAACCACTGAATCACTAAGATCTGACTCCTAGCTCCGAATCAGAAATTAACACTGGGCAACTGTACCGTGCTGTGCTCACGGCTACCCAGTCCAGGTGCTGGGGACTTAGATCTGCTGTGGTCAGGTCACTTCCCCCCTTGGGGCCTTGGTTCCTTCATCTAACAGGGAAGGCAGGGCTAGATGGATGACTCTCAATGGGCCTACTTGCTTTGCTT
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CTTCATCACATAAAGTTGTATAATAGAGCCAGTTAAGAATACAAAGAATCTTTGGGATGGCAAATGAAAGATGTAATAGATCTAAATAATGACCTAAATGATTTAAACGATTACACAGCAAAAGCTTGCATGTGACCTTTTTGGGGAAACCTGTATGTATGAAAGAGATTAAACTGCTGAATGGGTTCTTAAAACTGCTATGTCATTTATTGGCAACTGTATGTGCTAAGCTAACCCCTTATGCGCCAAGGTGTTCTAGGTGTGTTGTGCCAGGATCTAGCTGAGTAAGCTAGAGTACAATCGGAGCACAGCAGCAGCACACCAGCCAGGCGCTCAGGGTGCTTTTCAGCACACTCTTTATACTGCTGGTGCATTGTTATTTCCACGGTACTTCTACAGTCATTAGTCGTTGAAGCATTGTGGAAGTCCTGTGCGGGAGGCAGAGCAGGATTACTCCATTTTAAAGGGAAGACCCACGTAAAATGGTCATTTAAGGTCATGCATATAATTTTTGCAAGGCAGGAATTTCAGTCTTATTAATACTGCAAGTGTAGCTTCCTAAGTCTAGGATTCCTCTGTACTTTTCTGTCACCGTTTTTCTTTCTGACACTGACTTTATATACACAAGCAGGAAGTCTTGTTACGACATTAAAATTAACTTCATCAGGATGATTTTACAGAAGGTCACAAACTTGCAGCCCAGAGGCTGAGGCTGGACCACAAATTTGTTTTATTGGTTCCTTAAGCTCAGCACAATGGTGCTGAGCATCAGTAGTACCAACTCTTTTGCATTTACCCTGTCCATTTCATCTATATATTGCTTACCTGACCACAGCAGAAATCTGAATTTGTGGCCTTTTCTATCAATCAAATCACTTTATTTATTAAGAAATTATTCATCACAGGGAAAACTGATTCCATCATTGTTTAGCCTATCTGTTTGTTTTTGTGACAGGGTCTTGCTCTGTCGACCAGGCTGGAGTGCAGTAGTGCAATCTTGGCTCACTGCAACCTCCGCCTCGTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGTCACAGACACACACCATCATGCCCAACTAAATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCATTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCATCCACCTCGGCCTCCCAAAAGTGTTGGGATTACGGTTTGAGCCACCGCACCCGGCCCTAGCCTATCTTCAACATATTCAGAACACTTACATTGGCCTACCATTGGGGAAATCATCTAACTCAAAGCCTGTTTTACAATAAAGTGCTGACTATCTCGTGTAATTTATCAAATACTGTACTGAAAGTAAAAAACAGATCGGTTGTATGGGTTCTCAAAGTACAGCATGTCCTGAACGTGTATTACTTTTACATCATCAAAAAGTCAAAAACTCCTGAGTAAATCCACTGTAAGTCAGGGACTGTCTGCATACAAAATTTCATTTAGAAAATAATGCACATTTTCCAGCACAAAATAATTTGCACAAAAACATGAACGACCAATAAAGGAAAGTTTCAAATGATATGCTACTTGTCATCATTTTTTCTTTCTTTTTTTTCTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGACTCCTGCCACCAAGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGACCTTGTCATCATTTTTAACAAACATTTAGTTAAGATAAAAATTGCATCAAATATGGCAAGTAAATGACACAATCCCTATACATACTTGTAGCCATCTCTAATGAAAGTGGCTGCAGGGGGCATGGGCAGTTGTTCAATTTTAGGAGGAATTACCCATGAAGGCCGAAACAGACAGGCATCAGGTATCTTCAGAGGTAGCAAACAATGGCTCGGCAACATCTTCAGTGGAGCAAACATGGAGGATCCCACAAAAGGTTGAAAGGATGGAACTTTGTGCACATATGAAAAGTCCTGTGACAACAAAGTGGGGTCAGTGTTAATATTGGTAAACTCTGTAGAACACACCACAGTGGCATAGTGCTATCATAAAAACAGCAACCAAAATGATCGTATTTCAGTATTTCTCTCCTATGATCATTAGAAAATGCTAATGCAGAAATGTTAAATCAATCAAAAGACACTATTTAATATGCCTGCTGGTGTGCCTCATGTTCTAATTAAAAGGATTCTTAGGAACTTATGTATATATGGCACACAGACAATACCATTTTAAAGCAGATGTATGTGAATCCACTTGGAAACTGCTCTGCCCTGGAAATGTTAATATATTGACAACTACCTTAATTTCCTCGGGCTTGGGACTTCCTAATCCATCTTCCACTTCCATTTTGAATTCTGTGAGTTGTGTTGAAACCATACTGACCATAGGGCTCTCCATCATGCCTAATGCTGTCACTGTCTCTGAGCTGATCCCATCTTTATAATTCATCACAGGAGAAAATGCAGGATGCTGTTCCAAAGATGGTGGAGTGGGAAACATCCTTTGCAAGTCTGCAACTGCTAAAAATAAGAAATAAAAAAAATTTGTTTAATAGGAAGGGCTTCTAAAAAGTCCTAGCTTATAGCCAGGCGCACTCTTTGGCACCAAAAATAGTGCTAATTAAATGATCACATCAGTTCACAAAAGAATATTAATAATGGAAGTGACTAAGAAGAAGGCCATCAGCAGAGAATTATCTTTTTCTGGGTCTTGTTTTGTTTTGTTTCGTGAGACAAAGTATCACTGTATCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGACTCACTGTAACCTCTGCCTTCCTCGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGAAACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGGCCCGCCTGCCTCGTACTCCCCAAGCGCTGGGATGGCAGGTGTGAGCCACTGTGCCTGGACTTTTCTTGGTCTTTATCACTAACTTCTTGATGCTTTATGGTCTGGCTTCACATTAATTAAGTAAACAAAGTCTACATAACTTGTATGTTTCTTCCAACAACTGATTCCCTGAAAAGTCTAAGGAGAGGAATTAAACAGAAAGTGGAAGCAATTAGATAGTTACCACTACTAAAGTTCTATCCCTGCTTTCAAGTATGTATAAAATATTACAAAAAATAAAAATTGTTTGGAGCTGATTACTCAGCTAGTTTGACAAATCCACTACACTTACAGCTGCTCTTTTGGGGAAACTCACAGCTGCTCTTTTGGGGAAACAGTTCCATATTTTTTCCAGACAGATATTAAAATGAAACTTCAAAGTTTCTTTTAAGAAATACTTAGAACAGCGGTTCTGAACTCCTTCTTTAAAAAAAAAGTTTCCTTTAATACACCTGTAGTAAAAAATTATCACTACAGTAGTTCATTAAGGCACTGATTCTTAAAAAGTAGACCTATTGAAAAGTTGTAGTTGTAAAATTTGGCCACTAGGGGGTGGCCTATGCAGCAAATTTTTTAAGTTTGGAGCCACAGGTTTTTAAATCAGTGATTTAATGTCCCAGTTTCCTATCCTATTGCTCTTTCCAACAACTTCAAGATTTAAACAGACCAATAATAACCACTGAATCACTAAGATCTGACTCCTAGCTCCGAATCAGAAATTAACACTGGGCAACTGTACCGTGCTGTGCTCACGGCTACCCAGTCCAGGTGCTGGGGACTTAGATCTGCTGTGGTCAGGTCACTTCCCCCCTTGGGGCCTTGGTTCCTTCATCTAACAGGGAAGGCAGGGCTAGATGGATGACTCTCAATGGGCCTACTTGCTTTGCTT
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Task1_train_18822
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This gene mutation involves MED13L (mediator complex subunit 13L) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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GCCATTACCAGTCAGCATAATATATGATAATTTGGGAGATCGCTCTACTTGGTTATTTTAATTACCTGTAAGTGTCAATGTGGTCACCAGTAACCACACAAAAACCATTTTAAATACCCCTTGATCAATATGTTTGCTAATCTATGGAAGTCCCTGAACCTGACTGATACTAAATGATAAGACTGAGGAGGGAAAAAGTTGAGGCAAAAGGGGGTTTTACTCCCACATACCAAAAAATCAAGGGAAAATTATCACAATACTAAGAGAAAGAATTCCAACTTATAAATGAATTTTAAGATTAAATATCTGGATTAAAATATTTCATTTAAAAAAATTTACCTGATTTTACTAGAGTGGGAGCAATGATACTATGTCTTTGTAGGTAAAAATCACGTGTTGATTTTTTGGTCTGCATTGTAACACATTTAATAAAGTAACACTTTCATTTGAAAAGTTGGCGAGAATTTGCATTTCTCCATTAGTCTCATAGCAAAAAGGCATCTATGCCACCCATAATTAAATGTAACTAATTACAATTTGAACACTAAATTATTTATCCAGTGTAAACAAGGATTAAGAGGGAAATAATGCTTCTATCTACAGCGGGGGTTACAGAAAATAATTTCCAAAATGCATGCTCTCCAAAAGGGACTCACCTCCCCCCCAAAAAAAACAGGGTACACAACTTAAAACAAGTTGGGTGTTTTTAAGGCTAAATTAAATAAACCGTTCAGCCAATTTTCCAATTATATTCTACGCTTGAAACGTAATTGCCTTACATCTGTTTACAAATCTTTGCTCAATATTTAAACAAATTCGTACTCTCCTGGGCACATAGCTATACATACAGTAACTCATGCACAAAGCACATATTTAAAGACCACGCACTGCAATTATTAGCCTAAACGCCAGGTTTAACAACGTGAATGTTTTCAGAGGTAGGTAATACGACCCAATAAAAAGCAAAGATGGCATTTACCACCAAATGTCACTGACACCGCCAGGAAAAGAGTTGCTGGAGCCCTATACATTTTTAATTTCGATGAATCTAGACACCGTCGGCGGGTGCCAGGCTTCCACGAGAACAATTGACACCCTAACTGCTTCAAGATTAAGGCAGGCGATTCAAATCCGAAGGAAAAGTTGTCAATTATCAGAAAGAGAGAGCGCGAGAGAGGCGAAGGCAGATAAAAGCGATGTTATCAAACCGACCAGCTTGTTGCTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGGATTCGTTGTTAGGATAGAGAAAAACAGTTTTTAAAAGACACAGGAGGAGAGAAAGAAGAAAAAGCTTTCTCCACCTTCCGTCGGCTCGGTGCAATGGCTTTACGGCTCTCCAGCATAGTAAGCCCCGAGAGGCAGGCGGCTGTCGATGTTTACAATCGCGGGAGCTTCGGGTGCAAGAGTCCTTTCCTGACACAATCGCATTCAATCAACTATTTTAGGGCGAAATTGCAGGTGTCATTATGGAATTTAAAAAAATTCAAAAGGCAGGCGGGCGGGCAGGCAGCTGATCCAACAACGGGGGAAGAGGTTGCCGATCGGAGGCGCGGCAGCACAAGGCAAAGCCTTCCACATTTACGGGGGGAAAAAAAGGGGGGAAAGGGGAGGAGAAGGGGAGTGCGATTGCAACAGAGGGTGGGCGTTCGAAGTGCGACCCAGAATCCGCAGCTCCGAGACTTCCACATGCAAATTCCACGCCGAGCGCCGCGCTCACAAATGATTTTTAAAGAGCCAAATAAACACTGGATGGGATCCAAGGCGAGAGAGAGACGATCCAAAAGGGGGAGAATCGGCGAGAGGCGAACGGCGGGGAGACGCGAGGGAGGGGCGAAGTCCCGGCGGCGGGAGGAGAAAGTTGGTCGGCGGCGGAGGTCGGGGACCCCCCCCCTTCCCCGGCACAGCCCCCTCCCCGCAGCCCGGCTACTCACCAGCGAAAAGAGGTTGGAGTGACAATCCTCCAGGCTCGCCCCGTTCGCCACCCAGTTCGCTGCCGCAGTCATGATCCTCCGCGAGCCCGGCCGCCAGAGCGGGGCATGTCGGAGCGAGGCGTCCGAGGCGAGGCCGGGCCGGGCGGCGGCGCCTCGCCGGGGAGCGCGGGGCGGCCGGGCCGCCGCCGCCGCCGGGGGAGGGCGCGAGGGCCGGCGGGCAGGCGGGAGGCGCCGCGGCGACGCCGCGCCGGGGGCAGCGGGCCCGGGCTGGCGGGGGGGGCGCGCGCCCCGGGCCGGCGCTGCGGGCCGGCCACCGCCTCCGCCTTCCCTGCTCCTCAGCCGCCGCCGCCGCCGCTGCTGCCGCTGCCGCCGCCTTGTTTATCTCCAGCCACCGACTCCCCCTCGGCCCCCGCCGGCGCGCGAGGGGAGGCGAGCCCCGGAGCCGCCGCCGCCGCCTCGGAGCCGCCGCCGCCGCGGAGCGCGAACTCGCGAAGGGGGGGGTGCGGACGAAGCCAGCGGGCGACCCCGGCAGCCGAGCGACGTCCCCTCCTTCCTCTTCCTCCCCCACCCCCCCCTCCTCCCCAGTCAGCCTCGCTTCTCCTCCCTCCCCGGGCTCGCTTGCTCTGACAGCAATGGCGGCCGCCGACCGCGGCTCGGCCCGCCATTGGCTGGCGCTTGGTCACGTGACGGGCGCCGGCCGCGCGGGGGGAGCGAGGGGCGGGCGGGGGAGGGGTCCGGAGTGGCGGCGGCGGCGGCGGCTCGCGGGAGGCGCTGCTGAGCTGAGCGCGGCCGGGTCCTCCGGCCGGGAAGAGGGAGGGAGGGAGGCAGAGAGGGAGAGAAAGAAGTGCGGGCGGCCGGGCTCCCCGGCGGGCGGCGGACTGCCGGCCCGTGGCTGCCGTGGGCTGCCCCTCGTGGCCGCCCCGCCCCCTCGCGGTGCACTGATCGTGGCGGGGCGGGACCGTGGGTCCCGGGCGCGCCCGTGGTGGCCGCGGAGGAGGGCGCGGGACCCCCGGCCTGTGCCCTCGCAGCCCAGGCCGGCTGGCGTGGCGCGGCGGCCGCGATGTGGGCCAGGCAGCGGGTCCGAGTGCCCTGGGGAATGTGTCCTCAGAGGCTCGCGCCGCCGTCCGCCTTTTGCAGAGGAGAAAACTAAAGCACAAAGGGATTAAATCACTTGCCCGAGGTCGCACACTTGGGAAGAGGAGTCCAGATTCGAACCCGCGCACAGTGAAGCCAAGCTCTTGGACAAGGTTTCACAGGCTTCGCCCAGGGATATTCACGGCTGCCATAGACGGAGCGCTTACTGTGTTCCAGACACTGTGCGTTTAATACAGAAATGTTTATTGAGCCCTTACTCCTAGTTACTGTGTGCACTCATTCATTCATTCATTCATTCATTACATAAATGTTTCCTGAGCTCCTGCTGTGTGCCAGAATCTGTTATAACTTCCAGGCACTGTGCTAAGGCCGTGTTGGGAGCAGACCCTTCTTCCTGGCGTCATTCATTGGATAACCAACATTTCCTGAGTGTATATGGCCTGGGAGTCCGGAGGAGTGCTGCTATGAAGAGAAGCTCTCCCAGTCCTCAAGAAATGGATCCCCGAAAAGGGGGAGGAGAAAACAATGTCTTCACTAATACGCCTCCAAACATGGAACAATCAGCTGTTTCAGGTAGATTAAGCTAAAAGAGGAAGAGTGGATGGCTGGCACAGTGGCTCACGCCGGTAATCCTAGCCGAGGTTTAAGACCAGCCTGAGCAATGTAGCAAGAACCCCCGTCATGACAAAAAAAATAAAATACAAAAATACAAAAATTAGCCAGGCGTAGTGTGGCATGTGCCTGTAGCCCTAGCTACTCGAAAGGCTGAGGTGGGAGGATAACTTGAGCCCTGGAGGCAGAGGCTGCAGTGAGCCCAGTGAGCCGAGGTCGCATCACCGTACTCCAGCCTGAGTGACAGAGAGAGGCCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAGAGTAGAAAGCAGGGAAGAGATGAGAGTGTATAATAAGAGAAGTCTTAAGACACGTGAACTGAGTTTTGGAACTACCACAAATACTGCTAAAGCAAAACTCATGAGCAACATGTTATAATGT
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GCCATTACCAGTCAGCATAATATATGATAATTTGGGAGATCGCTCTACTTGGTTATTTTAATTACCTGTAAGTGTCAATGTGGTCACCAGTAACCACACAAAAACCATTTTAAATACCCCTTGATCAATATGTTTGCTAATCTATGGAAGTCCCTGAACCTGACTGATACTAAATGATAAGACTGAGGAGGGAAAAAGTTGAGGCAAAAGGGGGTTTTACTCCCACATACCAAAAAATCAAGGGAAAATTATCACAATACTAAGAGAAAGAATTCCAACTTATAAATGAATTTTAAGATTAAATATCTGGATTAAAATATTTCATTTAAAAAAATTTACCTGATTTTACTAGAGTGGGAGCAATGATACTATGTCTTTGTAGGTAAAAATCACGTGTTGATTTTTTGGTCTGCATTGTAACACATTTAATAAAGTAACACTTTCATTTGAAAAGTTGGCGAGAATTTGCATTTCTCCATTAGTCTCATAGCAAAAAGGCATCTATGCCACCCATAATTAAATGTAACTAATTACAATTTGAACACTAAATTATTTATCCAGTGTAAACAAGGATTAAGAGGGAAATAATGCTTCTATCTACAGCGGGGGTTACAGAAAATAATTTCCAAAATGCATGCTCTCCAAAAGGGACTCACCTCCCCCCCAAAAAAAACAGGGTACACAACTTAAAACAAGTTGGGTGTTTTTAAGGCTAAATTAAATAAACCGTTCAGCCAATTTTCCAATTATATTCTACGCTTGAAACGTAATTGCCTTACATCTGTTTACAAATCTTTGCTCAATATTTAAACAAATTCGTACTCTCCTGGGCACATAGCTATACATACAGTAACTCATGCACAAAGCACATATTTAAAGACCACGCACTGCAATTATTAGCCTAAACGCCAGGTTTAACAACGTGAATGTTTTCAGAGGTAGGTAATACGACCCAATAAAAAGCAAAGATGGCATTTACCACCAAATGTCACTGACACCGCCAGGAAAAGAGTTGCTGGAGCCCTATACATTTTTAATTTCGATGAATCTAGACACCGTCGGCGGGTGCCAGGCTTCCACGAGAACAATTGACACCCTAACTGCTTCAAGATTAAGGCAGGCGATTCAAATCCGAAGGAAAAGTTGTCAATTATCAGAAAGAGAGAGCGCGAGAGAGGCGAAGGCAGATAAAAGCGATGTTATCAAACCGACCAGCTTGTTGCTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGGATTCGTTGTTAGGATAGAGAAAAACAGTTTTTAAAAGACACAGGAGGAGAGAAAGAAGAAAAAGCTTTCTCCACCTTCCGTCGGCTCGGTGCAATGGCTTTACGGCTCTCCAGCATAGTAAGCCCCGAGAGGCAGGCGGCTGTCGATGTTTACAATCGCGGGAGCTTCGGGTGCAAGAGTCCTTTCCTGACACAATCGCATTCAATCAACTATTTTAGGGCGAAATTGCAGGTGTCATTATGGAATTTAAAAAAATTCAAAAGGCAGGCGGGCGGGCAGGCAGCTGATCCAACAACGGGGGAAGAGGTTGCCGATCGGAGGCGCGGCAGCACAAGGCAAAGCCTTCCACATTTACGGGGGGAAAAAAAGGGGGGAAAGGGGAGGAGAAGGGGAGTGCGATTGCAACAGAGGGTGGGCGTTCGAAGTGCGACCCAGAATCCGCAGCTCCGAGACTTCCACATGCAAATTCCACGCCGAGCGCCGCGCTCACAAATGATTTTTAAAGAGCCAAATAAACACTGGATGGGATCCAAGGCGAGAGAGAGACGATCCAAAAGGGGGAGAATCGGCGAGAGGCGAACGGCGGGGAGACGCGAGGGAGGGGCGAAGTCCCGGCGGCGGGAGGAGAAAGTTGGTCGGCGGCGGAGGTCGGGGACCCCCCCCCTTCCCCGGCACAGCCCCCTCCCCGCAGCCCGGCTACTCACCAGCGAAAAGAGGTTGGAGTGACAATCCTCCAGGCTCGCCCCGTTCGCCACCCAGTTCGCTGCCGCAGTCACGATCCTCCGCGAGCCCGGCCGCCAGAGCGGGGCATGTCGGAGCGAGGCGTCCGAGGCGAGGCCGGGCCGGGCGGCGGCGCCTCGCCGGGGAGCGCGGGGCGGCCGGGCCGCCGCCGCCGCCGGGGGAGGGCGCGAGGGCCGGCGGGCAGGCGGGAGGCGCCGCGGCGACGCCGCGCCGGGGGCAGCGGGCCCGGGCTGGCGGGGGGGGCGCGCGCCCCGGGCCGGCGCTGCGGGCCGGCCACCGCCTCCGCCTTCCCTGCTCCTCAGCCGCCGCCGCCGCCGCTGCTGCCGCTGCCGCCGCCTTGTTTATCTCCAGCCACCGACTCCCCCTCGGCCCCCGCCGGCGCGCGAGGGGAGGCGAGCCCCGGAGCCGCCGCCGCCGCCTCGGAGCCGCCGCCGCCGCGGAGCGCGAACTCGCGAAGGGGGGGGTGCGGACGAAGCCAGCGGGCGACCCCGGCAGCCGAGCGACGTCCCCTCCTTCCTCTTCCTCCCCCACCCCCCCCTCCTCCCCAGTCAGCCTCGCTTCTCCTCCCTCCCCGGGCTCGCTTGCTCTGACAGCAATGGCGGCCGCCGACCGCGGCTCGGCCCGCCATTGGCTGGCGCTTGGTCACGTGACGGGCGCCGGCCGCGCGGGGGGAGCGAGGGGCGGGCGGGGGAGGGGTCCGGAGTGGCGGCGGCGGCGGCGGCTCGCGGGAGGCGCTGCTGAGCTGAGCGCGGCCGGGTCCTCCGGCCGGGAAGAGGGAGGGAGGGAGGCAGAGAGGGAGAGAAAGAAGTGCGGGCGGCCGGGCTCCCCGGCGGGCGGCGGACTGCCGGCCCGTGGCTGCCGTGGGCTGCCCCTCGTGGCCGCCCCGCCCCCTCGCGGTGCACTGATCGTGGCGGGGCGGGACCGTGGGTCCCGGGCGCGCCCGTGGTGGCCGCGGAGGAGGGCGCGGGACCCCCGGCCTGTGCCCTCGCAGCCCAGGCCGGCTGGCGTGGCGCGGCGGCCGCGATGTGGGCCAGGCAGCGGGTCCGAGTGCCCTGGGGAATGTGTCCTCAGAGGCTCGCGCCGCCGTCCGCCTTTTGCAGAGGAGAAAACTAAAGCACAAAGGGATTAAATCACTTGCCCGAGGTCGCACACTTGGGAAGAGGAGTCCAGATTCGAACCCGCGCACAGTGAAGCCAAGCTCTTGGACAAGGTTTCACAGGCTTCGCCCAGGGATATTCACGGCTGCCATAGACGGAGCGCTTACTGTGTTCCAGACACTGTGCGTTTAATACAGAAATGTTTATTGAGCCCTTACTCCTAGTTACTGTGTGCACTCATTCATTCATTCATTCATTCATTACATAAATGTTTCCTGAGCTCCTGCTGTGTGCCAGAATCTGTTATAACTTCCAGGCACTGTGCTAAGGCCGTGTTGGGAGCAGACCCTTCTTCCTGGCGTCATTCATTGGATAACCAACATTTCCTGAGTGTATATGGCCTGGGAGTCCGGAGGAGTGCTGCTATGAAGAGAAGCTCTCCCAGTCCTCAAGAAATGGATCCCCGAAAAGGGGGAGGAGAAAACAATGTCTTCACTAATACGCCTCCAAACATGGAACAATCAGCTGTTTCAGGTAGATTAAGCTAAAAGAGGAAGAGTGGATGGCTGGCACAGTGGCTCACGCCGGTAATCCTAGCCGAGGTTTAAGACCAGCCTGAGCAATGTAGCAAGAACCCCCGTCATGACAAAAAAAATAAAATACAAAAATACAAAAATTAGCCAGGCGTAGTGTGGCATGTGCCTGTAGCCCTAGCTACTCGAAAGGCTGAGGTGGGAGGATAACTTGAGCCCTGGAGGCAGAGGCTGCAGTGAGCCCAGTGAGCCGAGGTCGCATCACCGTACTCCAGCCTGAGTGACAGAGAGAGGCCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAGAGTAGAAAGCAGGGAAGAGATGAGAGTGTATAATAAGAGAAGTCTTAAGACACGTGAACTGAGTTTTGGAACTACCACAAATACTGCTAAAGCAAAACTCATGAGCAACATGTTATAATGT
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Task1_train_18823
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This variant affects the gene HSPB8 (heat shock protein family B (small) member 8) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2L
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TTACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTTTGAGACAGAGTCTCACCCTTTTGCTGGGCTGGAGCGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTGGCCAGGAAGGTCTCGATCTCTTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGTCACCACGCCCTGCCTATTATTATTATTATTATTATTTTTAGAAACAGTGCCTCTCTATGTTGTCCAGGCTGGTCTCAAACTCCTGGCCTCGAGTCATCCTCCTGTCTCAGTCTCCCAAAGTGCAGACATTATAAGAGTGAGCCACTATGCCCGGCCTATTTTCTGCATTTTCTAACATACACATGCACTATCTTAAAGCACAAAAAAAGCTATTAACAAAGAAATAATTAAAAGTAATTAGCTATAAGTTGTCAGTTTAAAAAAATCTGGACTGCTATATTCAACAAAGTTGTTTACATTCTAGATTTCAAGGCCCCTCAGAAGCACCTCCCTGTGTAAATGAGGGTTCTTGCCTCCAGAAGGTGGCCCCACAAATGAGGAGTGAAAAGTAACAGCCGAATGGCCCCACTGTTGTACTAATCTTGTTTGTTTAAAGAGAAACTACAGACACTCTCTCTATTAAAGAAAAAAAGAATGAGGAGAGACCGAGAGAATTAGAATGTGCTATATACATTACAAGATCAAAACCAGTTTAGGCCCAAGTCTTCTTGTAATTTCATCTTTTTCCTCCCTGAGGGGGTTGGGAAGCCCTCTCTTACCACAGGTTAAGAGGCGAGAGGTCTGGTGGAATTTCACATCCACAGTGCCCTTAGGAAAAGCTGGGTGTTTTTGGCAGATTGAAGCATTCTTTTTCCAGGCTGTGCTTTCACTACTGGGTACAGATAATGTGGCTTAAAGAGCTAATCGGGAGCTGGAACAGACAGAAATTCAAGAGCAGAGAGGCATCAGGACCTAGAACTTGGCCTAGACTCAGAGAGAGCTGATTCAAAGCTCAGAGCCACCAGGGACCTGCTGGGCGACCCTGGATCCATCACCAAGCCTCAGTTTCCATGTTGGAAACAAAGGGAGAACGACGTCTGGGCTCAGAGTTAGGAAAGCACTCTGTTAGCTATAAAGCAAGCTACATGGCAGAGTCGCCCTCAGCATGTGACCCCGCTTCAAGCCTGCCATCCAGTCTGGGATGTCAGACCCAGGGTTCTACTGGCAGGTTAGAGAAGAGGAGTCAGGTGGGAGACTTGGAAGATTTGGTACAACACATGGAAGATTTGGTACAACACAGAAGTTTCTGCGATTTCCTCAGACTAACCCTTAATTAACTACAAACCACGGTCTACGCCTCCTTTCCATCAATTATCTTATTTCACCTTCATAGCCAGCCTTGGAAGTGGACTTAGGTGGGTCTGTATGGCAGACAAGGTCCTTGAGGCTTAGATAACTAGAGTCTCTAGGGTAGGCCTAAGTCACACAGCAAGGCAGGTCCAGGGCCAGGATTTGAACCCAAGCCTCAGTCCTGAAGGATGCCCAAGGAACATAGATGCTGACACGCCACACTTTTCTTCCTTCCAGGCAAACATGAAGAGAAACAGCAAGAAGGTGGCATTGTTTCTAAGAACTTCACAAAGAAAATCCAGTAAGTAACCTGGAGTCATGGAGCTCAGGGTGGGAGTGGAGGAGGGGGCACACCTGGGACCCATGATCTGGGGTCTCTCCCTCTTGGGCATCTCTCTTTTAAGACACCTCCTTGGGGCAGGGAATTGAACCCTCACACCTAACGAGGAGAAAATATCCCAGCAGACCTGTAATAGGGTCCCAGAAGGGGGAGCACATAGATTGCATCATCTCATCTGCTCGGTGCCCTGTGAGGTGGGTATTAAAAACCCCATTTTATTTATTTATTATTTATTTATTTATCTTGAGACCGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGCGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGGTCCGTGTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACCATGTCCGGCTAATTTTTTGTATTTGTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCACACTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCCGGGGAACAACTCCCTTTTATAGACTAAGCATCTGAGGGTAAGCAAGACAATGACTTGTCCACAATCACACAGCCCCTACCCATGGGGCATAGCTGAGGGAGGACCCCTGTCACCATCCAGAAAGACCATCCCCTGATTCCCCAAATGCCCCAGCAGAATATCTTCCAGGCTGCTTGCTCAGCCTCTGCCCTGCCAGGAAAATGAGCACCTTCTCTAGGGCATCCACAAAAATGAAGTTGGAAAGTGTCCTGAGAACACTGCATACTACCCAGAGAGGTTTGGAGGCTGAGACACTGGGACACAGGAAGAGCTATTTTGCTGAGGGGAGTAGAAGGGATTCATGTTTAACAGGGAAAGGGAGCCTGGGGGAACCGTGAGAGCAGCCAAGGACAATCAGGCTGAGGCCATGAACCAAAGCCACCACGAGCCCCTAGCTGGCAGTACCTATAGGGAGCAGAGTTGCACAGTGTGGTCACGATGGCTGCACTTAAACAACTGCCAGGTGCTTCATACATACCTTCTCCCTAATCAGCAATCAGCGTCACTCCACTATGTGCGTTTCTGGCCCCTAAACTCTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCGGCCTCAATCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGGCCAGCCTGGTCTTGATCTCCTGACTTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCTAAACTCTTTTCCAAGCCATCGTTGCATTTAGCCTTTGCAGCAAAAGTGTGCATCGGAGAGGAGACATGACCCTCCTTGCAATACAGGGAAACTAAGTCTCCCACAGGTGAAAGGACATACCCAAGGTCTTTACAGCTAGAATTTAGAAGGGCCCAGAATAGATCCCTGACCTCTGAGTTCCATGCTCAGTCCTTGGGCAAGGAATGCTGTTTCCTCATCTGTGAAAGGGATGCTGATTCCAGCCTTGCAGAGTTCCTGGCTGAAAGTGACATAAGGTCATGGCCCAGCGTAGGTCCTCATAAGTGGGAGTTCATTATTACTATTGTTATTGTTGACTCTTAACTTTTCCATCAGCCTTTGCAAAGAAATTCTGTGTGTGGAGAGATCACACTAGCTGAATTCTGAGGCTTCTTCCAGCTTGGGATTCTACATTCCTGTCTCTTCCCCCACATGTCCGTCCCTGGCCCTCCCACAGCCTCTGCAGTTCTTGGAAGCCTGTGGACACTTCCTGATAAGGCAAACGCCAAACCATTTGTTCTTCGTGTTTGCTGGCTTGCCTGGCATCTCCGTGCCCC
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TTACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTTTGAGACAGAGTCTCACCCTTTTGCTGGGCTGGAGCGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTGGCCAGGAAGGTCTCGATCTCTTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGTCACCACGCCCTGCCTATTATTATTATTATTATTATTTTTAGAAACAGTGCCTCTCTATGTTGTCCAGGCTGGTCTCAAACTCCTGGCCTCGAGTCATCCTCCTGTCTCAGTCTCCCAAAGTGCAGACATTATAAGAGTGAGCCACTATGCCCGGCCTATTTTCTGCATTTTCTAACATACACATGCACTATCTTAAAGCACAAAAAAAGCTATTAACAAAGAAATAATTAAAAGTAATTAGCTATAAGTTGTCAGTTTAAAAAAATCTGGACTGCTATATTCAACAAAGTTGTTTACATTCTAGATTTCAAGGCCCCTCAGAAGCACCTCCCTGTGTAAATGAGGGTTCTTGCCTCCAGAAGGTGGCCCCACAAATGAGGAGTGAAAAGTAACAGCCGAATGGCCCCACTGTTGTACTAATCTTGTTTGTTTAAAGAGAAACTACAGACACTCTCTCTATTAAAGAAAAAAAGAATGAGGAGAGACCGAGAGAATTAGAATGTGCTATATACATTACAAGATCAAAACCAGTTTAGGCCCAAGTCTTCTTGTAATTTCATCTTTTTCCTCCCTGAGGGGGTTGGGAAGCCCTCTCTTACCACAGGTTAAGAGGCGAGAGGTCTGGTGGAATTTCACATCCACAGTGCCCTTAGGAAAAGCTGGGTGTTTTTGGCAGATTGAAGCATTCTTTTTCCAGGCTGTGCTTTCACTACTGGGTACAGATAATGTGGCTTAAAGAGCTAATCGGGAGCTGGAACAGACAGAAATTCAAGAGCAGAGAGGCATCAGGACCTAGAACTTGGCCTAGACTCAGAGAGAGCTGATTCAAAGCTCAGAGCCACCAGGGACCTGCTGGGCGACCCTGGATCCATCACCAAGCCTCAGTTTCCATGTTGGAAACAAAGGGAGAACGACGTCTGGGCTCAGAGTTAGGAAAGCACTCTGTTAGCTATAAAGCAAGCTACATGGCAGAGTCGCCCTCAGCATGTGACCCCGCTTCAAGCCTGCCATCCAGTCTGGGATGTCAGACCCAGGGTTCTACTGGCAGGTTAGAGAAGAGGAGTCAGGTGGGAGACTTGGAAGATTTGGTACAACACATGGAAGATTTGGTACAACACAGAAGTTTCTGCGATTTCCTCAGACTAACCCTTAATTAACTACAAACCACGGTCTACGCCTCCTTTCCATCAATTATCTTATTTCACCTTCATAGCCAGCCTTGGAAGTGGACTTAGGTGGGTCTGTATGGCAGACAAGGTCCTTGAGGCTTAGATAACTAGAGTCTCTAGGGTAGGCCTAAGTCACACAGCAAGGCAGGTCCAGGGCCAGGATTTGAACCCAAGCCTCAGTCCTGAAGGATGCCCAAGGAACATAGATGCTGACACGCCACACTTTTCTTCCTTCCAGGCAAACATGAAGAGAAACAGCAAGAAGGTGGCATTGTTTCTAAGAACTTCACAGAGAAAATCCAGTAAGTAACCTGGAGTCATGGAGCTCAGGGTGGGAGTGGAGGAGGGGGCACACCTGGGACCCATGATCTGGGGTCTCTCCCTCTTGGGCATCTCTCTTTTAAGACACCTCCTTGGGGCAGGGAATTGAACCCTCACACCTAACGAGGAGAAAATATCCCAGCAGACCTGTAATAGGGTCCCAGAAGGGGGAGCACATAGATTGCATCATCTCATCTGCTCGGTGCCCTGTGAGGTGGGTATTAAAAACCCCATTTTATTTATTTATTATTTATTTATTTATCTTGAGACCGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGCGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGGTCCGTGTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACCATGTCCGGCTAATTTTTTGTATTTGTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCACACTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCCGGGGAACAACTCCCTTTTATAGACTAAGCATCTGAGGGTAAGCAAGACAATGACTTGTCCACAATCACACAGCCCCTACCCATGGGGCATAGCTGAGGGAGGACCCCTGTCACCATCCAGAAAGACCATCCCCTGATTCCCCAAATGCCCCAGCAGAATATCTTCCAGGCTGCTTGCTCAGCCTCTGCCCTGCCAGGAAAATGAGCACCTTCTCTAGGGCATCCACAAAAATGAAGTTGGAAAGTGTCCTGAGAACACTGCATACTACCCAGAGAGGTTTGGAGGCTGAGACACTGGGACACAGGAAGAGCTATTTTGCTGAGGGGAGTAGAAGGGATTCATGTTTAACAGGGAAAGGGAGCCTGGGGGAACCGTGAGAGCAGCCAAGGACAATCAGGCTGAGGCCATGAACCAAAGCCACCACGAGCCCCTAGCTGGCAGTACCTATAGGGAGCAGAGTTGCACAGTGTGGTCACGATGGCTGCACTTAAACAACTGCCAGGTGCTTCATACATACCTTCTCCCTAATCAGCAATCAGCGTCACTCCACTATGTGCGTTTCTGGCCCCTAAACTCTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCGGCCTCAATCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGGCCAGCCTGGTCTTGATCTCCTGACTTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCTAAACTCTTTTCCAAGCCATCGTTGCATTTAGCCTTTGCAGCAAAAGTGTGCATCGGAGAGGAGACATGACCCTCCTTGCAATACAGGGAAACTAAGTCTCCCACAGGTGAAAGGACATACCCAAGGTCTTTACAGCTAGAATTTAGAAGGGCCCAGAATAGATCCCTGACCTCTGAGTTCCATGCTCAGTCCTTGGGCAAGGAATGCTGTTTCCTCATCTGTGAAAGGGATGCTGATTCCAGCCTTGCAGAGTTCCTGGCTGAAAGTGACATAAGGTCATGGCCCAGCGTAGGTCCTCATAAGTGGGAGTTCATTATTACTATTGTTATTGTTGACTCTTAACTTTTCCATCAGCCTTTGCAAAGAAATTCTGTGTGTGGAGAGATCACACTAGCTGAATTCTGAGGCTTCTTCCAGCTTGGGATTCTACATTCCTGTCTCTTCCCCCACATGTCCGTCCCTGGCCCTCCCACAGCCTCTGCAGTTCTTGGAAGCCTGTGGACACTTCCTGATAAGGCAAACGCCAAACCATTTGTTCTTCGTGTTTGCTGGCTTGCCTGGCATCTCCGTGCCCC
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Task1_train_18824
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A genetic alteration is present in HSPB8 (heat shock protein family B (small) member 8) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2L
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TACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTTTGAGACAGAGTCTCACCCTTTTGCTGGGCTGGAGCGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTGGCCAGGAAGGTCTCGATCTCTTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGTCACCACGCCCTGCCTATTATTATTATTATTATTATTTTTAGAAACAGTGCCTCTCTATGTTGTCCAGGCTGGTCTCAAACTCCTGGCCTCGAGTCATCCTCCTGTCTCAGTCTCCCAAAGTGCAGACATTATAAGAGTGAGCCACTATGCCCGGCCTATTTTCTGCATTTTCTAACATACACATGCACTATCTTAAAGCACAAAAAAAGCTATTAACAAAGAAATAATTAAAAGTAATTAGCTATAAGTTGTCAGTTTAAAAAAATCTGGACTGCTATATTCAACAAAGTTGTTTACATTCTAGATTTCAAGGCCCCTCAGAAGCACCTCCCTGTGTAAATGAGGGTTCTTGCCTCCAGAAGGTGGCCCCACAAATGAGGAGTGAAAAGTAACAGCCGAATGGCCCCACTGTTGTACTAATCTTGTTTGTTTAAAGAGAAACTACAGACACTCTCTCTATTAAAGAAAAAAAGAATGAGGAGAGACCGAGAGAATTAGAATGTGCTATATACATTACAAGATCAAAACCAGTTTAGGCCCAAGTCTTCTTGTAATTTCATCTTTTTCCTCCCTGAGGGGGTTGGGAAGCCCTCTCTTACCACAGGTTAAGAGGCGAGAGGTCTGGTGGAATTTCACATCCACAGTGCCCTTAGGAAAAGCTGGGTGTTTTTGGCAGATTGAAGCATTCTTTTTCCAGGCTGTGCTTTCACTACTGGGTACAGATAATGTGGCTTAAAGAGCTAATCGGGAGCTGGAACAGACAGAAATTCAAGAGCAGAGAGGCATCAGGACCTAGAACTTGGCCTAGACTCAGAGAGAGCTGATTCAAAGCTCAGAGCCACCAGGGACCTGCTGGGCGACCCTGGATCCATCACCAAGCCTCAGTTTCCATGTTGGAAACAAAGGGAGAACGACGTCTGGGCTCAGAGTTAGGAAAGCACTCTGTTAGCTATAAAGCAAGCTACATGGCAGAGTCGCCCTCAGCATGTGACCCCGCTTCAAGCCTGCCATCCAGTCTGGGATGTCAGACCCAGGGTTCTACTGGCAGGTTAGAGAAGAGGAGTCAGGTGGGAGACTTGGAAGATTTGGTACAACACATGGAAGATTTGGTACAACACAGAAGTTTCTGCGATTTCCTCAGACTAACCCTTAATTAACTACAAACCACGGTCTACGCCTCCTTTCCATCAATTATCTTATTTCACCTTCATAGCCAGCCTTGGAAGTGGACTTAGGTGGGTCTGTATGGCAGACAAGGTCCTTGAGGCTTAGATAACTAGAGTCTCTAGGGTAGGCCTAAGTCACACAGCAAGGCAGGTCCAGGGCCAGGATTTGAACCCAAGCCTCAGTCCTGAAGGATGCCCAAGGAACATAGATGCTGACACGCCACACTTTTCTTCCTTCCAGGCAAACATGAAGAGAAACAGCAAGAAGGTGGCATTGTTTCTAAGAACTTCACAAAGAAAATCCAGTAAGTAACCTGGAGTCATGGAGCTCAGGGTGGGAGTGGAGGAGGGGGCACACCTGGGACCCATGATCTGGGGTCTCTCCCTCTTGGGCATCTCTCTTTTAAGACACCTCCTTGGGGCAGGGAATTGAACCCTCACACCTAACGAGGAGAAAATATCCCAGCAGACCTGTAATAGGGTCCCAGAAGGGGGAGCACATAGATTGCATCATCTCATCTGCTCGGTGCCCTGTGAGGTGGGTATTAAAAACCCCATTTTATTTATTTATTATTTATTTATTTATCTTGAGACCGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGCGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGGTCCGTGTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACCATGTCCGGCTAATTTTTTGTATTTGTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCACACTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCCGGGGAACAACTCCCTTTTATAGACTAAGCATCTGAGGGTAAGCAAGACAATGACTTGTCCACAATCACACAGCCCCTACCCATGGGGCATAGCTGAGGGAGGACCCCTGTCACCATCCAGAAAGACCATCCCCTGATTCCCCAAATGCCCCAGCAGAATATCTTCCAGGCTGCTTGCTCAGCCTCTGCCCTGCCAGGAAAATGAGCACCTTCTCTAGGGCATCCACAAAAATGAAGTTGGAAAGTGTCCTGAGAACACTGCATACTACCCAGAGAGGTTTGGAGGCTGAGACACTGGGACACAGGAAGAGCTATTTTGCTGAGGGGAGTAGAAGGGATTCATGTTTAACAGGGAAAGGGAGCCTGGGGGAACCGTGAGAGCAGCCAAGGACAATCAGGCTGAGGCCATGAACCAAAGCCACCACGAGCCCCTAGCTGGCAGTACCTATAGGGAGCAGAGTTGCACAGTGTGGTCACGATGGCTGCACTTAAACAACTGCCAGGTGCTTCATACATACCTTCTCCCTAATCAGCAATCAGCGTCACTCCACTATGTGCGTTTCTGGCCCCTAAACTCTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCGGCCTCAATCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGGCCAGCCTGGTCTTGATCTCCTGACTTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCTAAACTCTTTTCCAAGCCATCGTTGCATTTAGCCTTTGCAGCAAAAGTGTGCATCGGAGAGGAGACATGACCCTCCTTGCAATACAGGGAAACTAAGTCTCCCACAGGTGAAAGGACATACCCAAGGTCTTTACAGCTAGAATTTAGAAGGGCCCAGAATAGATCCCTGACCTCTGAGTTCCATGCTCAGTCCTTGGGCAAGGAATGCTGTTTCCTCATCTGTGAAAGGGATGCTGATTCCAGCCTTGCAGAGTTCCTGGCTGAAAGTGACATAAGGTCATGGCCCAGCGTAGGTCCTCATAAGTGGGAGTTCATTATTACTATTGTTATTGTTGACTCTTAACTTTTCCATCAGCCTTTGCAAAGAAATTCTGTGTGTGGAGAGATCACACTAGCTGAATTCTGAGGCTTCTTCCAGCTTGGGATTCTACATTCCTGTCTCTTCCCCCACATGTCCGTCCCTGGCCCTCCCACAGCCTCTGCAGTTCTTGGAAGCCTGTGGACACTTCCTGATAAGGCAAACGCCAAACCATTTGTTCTTCGTGTTTGCTGGCTTGCCTGGCATCTCCGTGCCCCA
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TACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTTTGAGACAGAGTCTCACCCTTTTGCTGGGCTGGAGCGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTGGCCAGGAAGGTCTCGATCTCTTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGTCACCACGCCCTGCCTATTATTATTATTATTATTATTTTTAGAAACAGTGCCTCTCTATGTTGTCCAGGCTGGTCTCAAACTCCTGGCCTCGAGTCATCCTCCTGTCTCAGTCTCCCAAAGTGCAGACATTATAAGAGTGAGCCACTATGCCCGGCCTATTTTCTGCATTTTCTAACATACACATGCACTATCTTAAAGCACAAAAAAAGCTATTAACAAAGAAATAATTAAAAGTAATTAGCTATAAGTTGTCAGTTTAAAAAAATCTGGACTGCTATATTCAACAAAGTTGTTTACATTCTAGATTTCAAGGCCCCTCAGAAGCACCTCCCTGTGTAAATGAGGGTTCTTGCCTCCAGAAGGTGGCCCCACAAATGAGGAGTGAAAAGTAACAGCCGAATGGCCCCACTGTTGTACTAATCTTGTTTGTTTAAAGAGAAACTACAGACACTCTCTCTATTAAAGAAAAAAAGAATGAGGAGAGACCGAGAGAATTAGAATGTGCTATATACATTACAAGATCAAAACCAGTTTAGGCCCAAGTCTTCTTGTAATTTCATCTTTTTCCTCCCTGAGGGGGTTGGGAAGCCCTCTCTTACCACAGGTTAAGAGGCGAGAGGTCTGGTGGAATTTCACATCCACAGTGCCCTTAGGAAAAGCTGGGTGTTTTTGGCAGATTGAAGCATTCTTTTTCCAGGCTGTGCTTTCACTACTGGGTACAGATAATGTGGCTTAAAGAGCTAATCGGGAGCTGGAACAGACAGAAATTCAAGAGCAGAGAGGCATCAGGACCTAGAACTTGGCCTAGACTCAGAGAGAGCTGATTCAAAGCTCAGAGCCACCAGGGACCTGCTGGGCGACCCTGGATCCATCACCAAGCCTCAGTTTCCATGTTGGAAACAAAGGGAGAACGACGTCTGGGCTCAGAGTTAGGAAAGCACTCTGTTAGCTATAAAGCAAGCTACATGGCAGAGTCGCCCTCAGCATGTGACCCCGCTTCAAGCCTGCCATCCAGTCTGGGATGTCAGACCCAGGGTTCTACTGGCAGGTTAGAGAAGAGGAGTCAGGTGGGAGACTTGGAAGATTTGGTACAACACATGGAAGATTTGGTACAACACAGAAGTTTCTGCGATTTCCTCAGACTAACCCTTAATTAACTACAAACCACGGTCTACGCCTCCTTTCCATCAATTATCTTATTTCACCTTCATAGCCAGCCTTGGAAGTGGACTTAGGTGGGTCTGTATGGCAGACAAGGTCCTTGAGGCTTAGATAACTAGAGTCTCTAGGGTAGGCCTAAGTCACACAGCAAGGCAGGTCCAGGGCCAGGATTTGAACCCAAGCCTCAGTCCTGAAGGATGCCCAAGGAACATAGATGCTGACACGCCACACTTTTCTTCCTTCCAGGCAAACATGAAGAGAAACAGCAAGAAGGTGGCATTGTTTCTAAGAACTTCACAATGAAAATCCAGTAAGTAACCTGGAGTCATGGAGCTCAGGGTGGGAGTGGAGGAGGGGGCACACCTGGGACCCATGATCTGGGGTCTCTCCCTCTTGGGCATCTCTCTTTTAAGACACCTCCTTGGGGCAGGGAATTGAACCCTCACACCTAACGAGGAGAAAATATCCCAGCAGACCTGTAATAGGGTCCCAGAAGGGGGAGCACATAGATTGCATCATCTCATCTGCTCGGTGCCCTGTGAGGTGGGTATTAAAAACCCCATTTTATTTATTTATTATTTATTTATTTATCTTGAGACCGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGCGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGGTCCGTGTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACCATGTCCGGCTAATTTTTTGTATTTGTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCACACTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCCGGGGAACAACTCCCTTTTATAGACTAAGCATCTGAGGGTAAGCAAGACAATGACTTGTCCACAATCACACAGCCCCTACCCATGGGGCATAGCTGAGGGAGGACCCCTGTCACCATCCAGAAAGACCATCCCCTGATTCCCCAAATGCCCCAGCAGAATATCTTCCAGGCTGCTTGCTCAGCCTCTGCCCTGCCAGGAAAATGAGCACCTTCTCTAGGGCATCCACAAAAATGAAGTTGGAAAGTGTCCTGAGAACACTGCATACTACCCAGAGAGGTTTGGAGGCTGAGACACTGGGACACAGGAAGAGCTATTTTGCTGAGGGGAGTAGAAGGGATTCATGTTTAACAGGGAAAGGGAGCCTGGGGGAACCGTGAGAGCAGCCAAGGACAATCAGGCTGAGGCCATGAACCAAAGCCACCACGAGCCCCTAGCTGGCAGTACCTATAGGGAGCAGAGTTGCACAGTGTGGTCACGATGGCTGCACTTAAACAACTGCCAGGTGCTTCATACATACCTTCTCCCTAATCAGCAATCAGCGTCACTCCACTATGTGCGTTTCTGGCCCCTAAACTCTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCGGCCTCAATCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGGCCAGCCTGGTCTTGATCTCCTGACTTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCTAAACTCTTTTCCAAGCCATCGTTGCATTTAGCCTTTGCAGCAAAAGTGTGCATCGGAGAGGAGACATGACCCTCCTTGCAATACAGGGAAACTAAGTCTCCCACAGGTGAAAGGACATACCCAAGGTCTTTACAGCTAGAATTTAGAAGGGCCCAGAATAGATCCCTGACCTCTGAGTTCCATGCTCAGTCCTTGGGCAAGGAATGCTGTTTCCTCATCTGTGAAAGGGATGCTGATTCCAGCCTTGCAGAGTTCCTGGCTGAAAGTGACATAAGGTCATGGCCCAGCGTAGGTCCTCATAAGTGGGAGTTCATTATTACTATTGTTATTGTTGACTCTTAACTTTTCCATCAGCCTTTGCAAAGAAATTCTGTGTGTGGAGAGATCACACTAGCTGAATTCTGAGGCTTCTTCCAGCTTGGGATTCTACATTCCTGTCTCTTCCCCCACATGTCCGTCCCTGGCCCTCCCACAGCCTCTGCAGTTCTTGGAAGCCTGTGGACACTTCCTGATAAGGCAAACGCCAAACCATTTGTTCTTCGTGTTTGCTGGCTTGCCTGGCATCTCCGTGCCCCA
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Task1_train_18825
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This alteration in HSPB8 (heat shock protein family B (small) member 8) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Neuronopathy, distal hereditary motor, type 2A
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ACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTTTGAGACAGAGTCTCACCCTTTTGCTGGGCTGGAGCGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTGGCCAGGAAGGTCTCGATCTCTTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGTCACCACGCCCTGCCTATTATTATTATTATTATTATTTTTAGAAACAGTGCCTCTCTATGTTGTCCAGGCTGGTCTCAAACTCCTGGCCTCGAGTCATCCTCCTGTCTCAGTCTCCCAAAGTGCAGACATTATAAGAGTGAGCCACTATGCCCGGCCTATTTTCTGCATTTTCTAACATACACATGCACTATCTTAAAGCACAAAAAAAGCTATTAACAAAGAAATAATTAAAAGTAATTAGCTATAAGTTGTCAGTTTAAAAAAATCTGGACTGCTATATTCAACAAAGTTGTTTACATTCTAGATTTCAAGGCCCCTCAGAAGCACCTCCCTGTGTAAATGAGGGTTCTTGCCTCCAGAAGGTGGCCCCACAAATGAGGAGTGAAAAGTAACAGCCGAATGGCCCCACTGTTGTACTAATCTTGTTTGTTTAAAGAGAAACTACAGACACTCTCTCTATTAAAGAAAAAAAGAATGAGGAGAGACCGAGAGAATTAGAATGTGCTATATACATTACAAGATCAAAACCAGTTTAGGCCCAAGTCTTCTTGTAATTTCATCTTTTTCCTCCCTGAGGGGGTTGGGAAGCCCTCTCTTACCACAGGTTAAGAGGCGAGAGGTCTGGTGGAATTTCACATCCACAGTGCCCTTAGGAAAAGCTGGGTGTTTTTGGCAGATTGAAGCATTCTTTTTCCAGGCTGTGCTTTCACTACTGGGTACAGATAATGTGGCTTAAAGAGCTAATCGGGAGCTGGAACAGACAGAAATTCAAGAGCAGAGAGGCATCAGGACCTAGAACTTGGCCTAGACTCAGAGAGAGCTGATTCAAAGCTCAGAGCCACCAGGGACCTGCTGGGCGACCCTGGATCCATCACCAAGCCTCAGTTTCCATGTTGGAAACAAAGGGAGAACGACGTCTGGGCTCAGAGTTAGGAAAGCACTCTGTTAGCTATAAAGCAAGCTACATGGCAGAGTCGCCCTCAGCATGTGACCCCGCTTCAAGCCTGCCATCCAGTCTGGGATGTCAGACCCAGGGTTCTACTGGCAGGTTAGAGAAGAGGAGTCAGGTGGGAGACTTGGAAGATTTGGTACAACACATGGAAGATTTGGTACAACACAGAAGTTTCTGCGATTTCCTCAGACTAACCCTTAATTAACTACAAACCACGGTCTACGCCTCCTTTCCATCAATTATCTTATTTCACCTTCATAGCCAGCCTTGGAAGTGGACTTAGGTGGGTCTGTATGGCAGACAAGGTCCTTGAGGCTTAGATAACTAGAGTCTCTAGGGTAGGCCTAAGTCACACAGCAAGGCAGGTCCAGGGCCAGGATTTGAACCCAAGCCTCAGTCCTGAAGGATGCCCAAGGAACATAGATGCTGACACGCCACACTTTTCTTCCTTCCAGGCAAACATGAAGAGAAACAGCAAGAAGGTGGCATTGTTTCTAAGAACTTCACAAAGAAAATCCAGTAAGTAACCTGGAGTCATGGAGCTCAGGGTGGGAGTGGAGGAGGGGGCACACCTGGGACCCATGATCTGGGGTCTCTCCCTCTTGGGCATCTCTCTTTTAAGACACCTCCTTGGGGCAGGGAATTGAACCCTCACACCTAACGAGGAGAAAATATCCCAGCAGACCTGTAATAGGGTCCCAGAAGGGGGAGCACATAGATTGCATCATCTCATCTGCTCGGTGCCCTGTGAGGTGGGTATTAAAAACCCCATTTTATTTATTTATTATTTATTTATTTATCTTGAGACCGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGCGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGGTCCGTGTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACCATGTCCGGCTAATTTTTTGTATTTGTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCACACTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCCGGGGAACAACTCCCTTTTATAGACTAAGCATCTGAGGGTAAGCAAGACAATGACTTGTCCACAATCACACAGCCCCTACCCATGGGGCATAGCTGAGGGAGGACCCCTGTCACCATCCAGAAAGACCATCCCCTGATTCCCCAAATGCCCCAGCAGAATATCTTCCAGGCTGCTTGCTCAGCCTCTGCCCTGCCAGGAAAATGAGCACCTTCTCTAGGGCATCCACAAAAATGAAGTTGGAAAGTGTCCTGAGAACACTGCATACTACCCAGAGAGGTTTGGAGGCTGAGACACTGGGACACAGGAAGAGCTATTTTGCTGAGGGGAGTAGAAGGGATTCATGTTTAACAGGGAAAGGGAGCCTGGGGGAACCGTGAGAGCAGCCAAGGACAATCAGGCTGAGGCCATGAACCAAAGCCACCACGAGCCCCTAGCTGGCAGTACCTATAGGGAGCAGAGTTGCACAGTGTGGTCACGATGGCTGCACTTAAACAACTGCCAGGTGCTTCATACATACCTTCTCCCTAATCAGCAATCAGCGTCACTCCACTATGTGCGTTTCTGGCCCCTAAACTCTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCGGCCTCAATCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGGCCAGCCTGGTCTTGATCTCCTGACTTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCTAAACTCTTTTCCAAGCCATCGTTGCATTTAGCCTTTGCAGCAAAAGTGTGCATCGGAGAGGAGACATGACCCTCCTTGCAATACAGGGAAACTAAGTCTCCCACAGGTGAAAGGACATACCCAAGGTCTTTACAGCTAGAATTTAGAAGGGCCCAGAATAGATCCCTGACCTCTGAGTTCCATGCTCAGTCCTTGGGCAAGGAATGCTGTTTCCTCATCTGTGAAAGGGATGCTGATTCCAGCCTTGCAGAGTTCCTGGCTGAAAGTGACATAAGGTCATGGCCCAGCGTAGGTCCTCATAAGTGGGAGTTCATTATTACTATTGTTATTGTTGACTCTTAACTTTTCCATCAGCCTTTGCAAAGAAATTCTGTGTGTGGAGAGATCACACTAGCTGAATTCTGAGGCTTCTTCCAGCTTGGGATTCTACATTCCTGTCTCTTCCCCCACATGTCCGTCCCTGGCCCTCCCACAGCCTCTGCAGTTCTTGGAAGCCTGTGGACACTTCCTGATAAGGCAAACGCCAAACCATTTGTTCTTCGTGTTTGCTGGCTTGCCTGGCATCTCCGTGCCCCAC
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ACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTTTGAGACAGAGTCTCACCCTTTTGCTGGGCTGGAGCGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTGGCCAGGAAGGTCTCGATCTCTTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGTCACCACGCCCTGCCTATTATTATTATTATTATTATTTTTAGAAACAGTGCCTCTCTATGTTGTCCAGGCTGGTCTCAAACTCCTGGCCTCGAGTCATCCTCCTGTCTCAGTCTCCCAAAGTGCAGACATTATAAGAGTGAGCCACTATGCCCGGCCTATTTTCTGCATTTTCTAACATACACATGCACTATCTTAAAGCACAAAAAAAGCTATTAACAAAGAAATAATTAAAAGTAATTAGCTATAAGTTGTCAGTTTAAAAAAATCTGGACTGCTATATTCAACAAAGTTGTTTACATTCTAGATTTCAAGGCCCCTCAGAAGCACCTCCCTGTGTAAATGAGGGTTCTTGCCTCCAGAAGGTGGCCCCACAAATGAGGAGTGAAAAGTAACAGCCGAATGGCCCCACTGTTGTACTAATCTTGTTTGTTTAAAGAGAAACTACAGACACTCTCTCTATTAAAGAAAAAAAGAATGAGGAGAGACCGAGAGAATTAGAATGTGCTATATACATTACAAGATCAAAACCAGTTTAGGCCCAAGTCTTCTTGTAATTTCATCTTTTTCCTCCCTGAGGGGGTTGGGAAGCCCTCTCTTACCACAGGTTAAGAGGCGAGAGGTCTGGTGGAATTTCACATCCACAGTGCCCTTAGGAAAAGCTGGGTGTTTTTGGCAGATTGAAGCATTCTTTTTCCAGGCTGTGCTTTCACTACTGGGTACAGATAATGTGGCTTAAAGAGCTAATCGGGAGCTGGAACAGACAGAAATTCAAGAGCAGAGAGGCATCAGGACCTAGAACTTGGCCTAGACTCAGAGAGAGCTGATTCAAAGCTCAGAGCCACCAGGGACCTGCTGGGCGACCCTGGATCCATCACCAAGCCTCAGTTTCCATGTTGGAAACAAAGGGAGAACGACGTCTGGGCTCAGAGTTAGGAAAGCACTCTGTTAGCTATAAAGCAAGCTACATGGCAGAGTCGCCCTCAGCATGTGACCCCGCTTCAAGCCTGCCATCCAGTCTGGGATGTCAGACCCAGGGTTCTACTGGCAGGTTAGAGAAGAGGAGTCAGGTGGGAGACTTGGAAGATTTGGTACAACACATGGAAGATTTGGTACAACACAGAAGTTTCTGCGATTTCCTCAGACTAACCCTTAATTAACTACAAACCACGGTCTACGCCTCCTTTCCATCAATTATCTTATTTCACCTTCATAGCCAGCCTTGGAAGTGGACTTAGGTGGGTCTGTATGGCAGACAAGGTCCTTGAGGCTTAGATAACTAGAGTCTCTAGGGTAGGCCTAAGTCACACAGCAAGGCAGGTCCAGGGCCAGGATTTGAACCCAAGCCTCAGTCCTGAAGGATGCCCAAGGAACATAGATGCTGACACGCCACACTTTTCTTCCTTCCAGGCAAACATGAAGAGAAACAGCAAGAAGGTGGCATTGTTTCTAAGAACTTCACAAACAAAATCCAGTAAGTAACCTGGAGTCATGGAGCTCAGGGTGGGAGTGGAGGAGGGGGCACACCTGGGACCCATGATCTGGGGTCTCTCCCTCTTGGGCATCTCTCTTTTAAGACACCTCCTTGGGGCAGGGAATTGAACCCTCACACCTAACGAGGAGAAAATATCCCAGCAGACCTGTAATAGGGTCCCAGAAGGGGGAGCACATAGATTGCATCATCTCATCTGCTCGGTGCCCTGTGAGGTGGGTATTAAAAACCCCATTTTATTTATTTATTATTTATTTATTTATCTTGAGACCGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGCGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGGTCCGTGTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACCATGTCCGGCTAATTTTTTGTATTTGTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCACACTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCCGGGGAACAACTCCCTTTTATAGACTAAGCATCTGAGGGTAAGCAAGACAATGACTTGTCCACAATCACACAGCCCCTACCCATGGGGCATAGCTGAGGGAGGACCCCTGTCACCATCCAGAAAGACCATCCCCTGATTCCCCAAATGCCCCAGCAGAATATCTTCCAGGCTGCTTGCTCAGCCTCTGCCCTGCCAGGAAAATGAGCACCTTCTCTAGGGCATCCACAAAAATGAAGTTGGAAAGTGTCCTGAGAACACTGCATACTACCCAGAGAGGTTTGGAGGCTGAGACACTGGGACACAGGAAGAGCTATTTTGCTGAGGGGAGTAGAAGGGATTCATGTTTAACAGGGAAAGGGAGCCTGGGGGAACCGTGAGAGCAGCCAAGGACAATCAGGCTGAGGCCATGAACCAAAGCCACCACGAGCCCCTAGCTGGCAGTACCTATAGGGAGCAGAGTTGCACAGTGTGGTCACGATGGCTGCACTTAAACAACTGCCAGGTGCTTCATACATACCTTCTCCCTAATCAGCAATCAGCGTCACTCCACTATGTGCGTTTCTGGCCCCTAAACTCTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCGGCCTCAATCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGGCCAGCCTGGTCTTGATCTCCTGACTTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCTAAACTCTTTTCCAAGCCATCGTTGCATTTAGCCTTTGCAGCAAAAGTGTGCATCGGAGAGGAGACATGACCCTCCTTGCAATACAGGGAAACTAAGTCTCCCACAGGTGAAAGGACATACCCAAGGTCTTTACAGCTAGAATTTAGAAGGGCCCAGAATAGATCCCTGACCTCTGAGTTCCATGCTCAGTCCTTGGGCAAGGAATGCTGTTTCCTCATCTGTGAAAGGGATGCTGATTCCAGCCTTGCAGAGTTCCTGGCTGAAAGTGACATAAGGTCATGGCCCAGCGTAGGTCCTCATAAGTGGGAGTTCATTATTACTATTGTTATTGTTGACTCTTAACTTTTCCATCAGCCTTTGCAAAGAAATTCTGTGTGTGGAGAGATCACACTAGCTGAATTCTGAGGCTTCTTCCAGCTTGGGATTCTACATTCCTGTCTCTTCCCCCACATGTCCGTCCCTGGCCCTCCCACAGCCTCTGCAGTTCTTGGAAGCCTGTGGACACTTCCTGATAAGGCAAACGCCAAACCATTTGTTCTTCGTGTTTGCTGGCTTGCCTGGCATCTCCGTGCCCCAC
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Task1_train_18826
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This variant affects gene HSPB8 (heat shock protein family B (small) member 8) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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ACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTTTGAGACAGAGTCTCACCCTTTTGCTGGGCTGGAGCGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTGGCCAGGAAGGTCTCGATCTCTTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGTCACCACGCCCTGCCTATTATTATTATTATTATTATTTTTAGAAACAGTGCCTCTCTATGTTGTCCAGGCTGGTCTCAAACTCCTGGCCTCGAGTCATCCTCCTGTCTCAGTCTCCCAAAGTGCAGACATTATAAGAGTGAGCCACTATGCCCGGCCTATTTTCTGCATTTTCTAACATACACATGCACTATCTTAAAGCACAAAAAAAGCTATTAACAAAGAAATAATTAAAAGTAATTAGCTATAAGTTGTCAGTTTAAAAAAATCTGGACTGCTATATTCAACAAAGTTGTTTACATTCTAGATTTCAAGGCCCCTCAGAAGCACCTCCCTGTGTAAATGAGGGTTCTTGCCTCCAGAAGGTGGCCCCACAAATGAGGAGTGAAAAGTAACAGCCGAATGGCCCCACTGTTGTACTAATCTTGTTTGTTTAAAGAGAAACTACAGACACTCTCTCTATTAAAGAAAAAAAGAATGAGGAGAGACCGAGAGAATTAGAATGTGCTATATACATTACAAGATCAAAACCAGTTTAGGCCCAAGTCTTCTTGTAATTTCATCTTTTTCCTCCCTGAGGGGGTTGGGAAGCCCTCTCTTACCACAGGTTAAGAGGCGAGAGGTCTGGTGGAATTTCACATCCACAGTGCCCTTAGGAAAAGCTGGGTGTTTTTGGCAGATTGAAGCATTCTTTTTCCAGGCTGTGCTTTCACTACTGGGTACAGATAATGTGGCTTAAAGAGCTAATCGGGAGCTGGAACAGACAGAAATTCAAGAGCAGAGAGGCATCAGGACCTAGAACTTGGCCTAGACTCAGAGAGAGCTGATTCAAAGCTCAGAGCCACCAGGGACCTGCTGGGCGACCCTGGATCCATCACCAAGCCTCAGTTTCCATGTTGGAAACAAAGGGAGAACGACGTCTGGGCTCAGAGTTAGGAAAGCACTCTGTTAGCTATAAAGCAAGCTACATGGCAGAGTCGCCCTCAGCATGTGACCCCGCTTCAAGCCTGCCATCCAGTCTGGGATGTCAGACCCAGGGTTCTACTGGCAGGTTAGAGAAGAGGAGTCAGGTGGGAGACTTGGAAGATTTGGTACAACACATGGAAGATTTGGTACAACACAGAAGTTTCTGCGATTTCCTCAGACTAACCCTTAATTAACTACAAACCACGGTCTACGCCTCCTTTCCATCAATTATCTTATTTCACCTTCATAGCCAGCCTTGGAAGTGGACTTAGGTGGGTCTGTATGGCAGACAAGGTCCTTGAGGCTTAGATAACTAGAGTCTCTAGGGTAGGCCTAAGTCACACAGCAAGGCAGGTCCAGGGCCAGGATTTGAACCCAAGCCTCAGTCCTGAAGGATGCCCAAGGAACATAGATGCTGACACGCCACACTTTTCTTCCTTCCAGGCAAACATGAAGAGAAACAGCAAGAAGGTGGCATTGTTTCTAAGAACTTCACAAAGAAAATCCAGTAAGTAACCTGGAGTCATGGAGCTCAGGGTGGGAGTGGAGGAGGGGGCACACCTGGGACCCATGATCTGGGGTCTCTCCCTCTTGGGCATCTCTCTTTTAAGACACCTCCTTGGGGCAGGGAATTGAACCCTCACACCTAACGAGGAGAAAATATCCCAGCAGACCTGTAATAGGGTCCCAGAAGGGGGAGCACATAGATTGCATCATCTCATCTGCTCGGTGCCCTGTGAGGTGGGTATTAAAAACCCCATTTTATTTATTTATTATTTATTTATTTATCTTGAGACCGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGCGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGGTCCGTGTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACCATGTCCGGCTAATTTTTTGTATTTGTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCACACTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCCGGGGAACAACTCCCTTTTATAGACTAAGCATCTGAGGGTAAGCAAGACAATGACTTGTCCACAATCACACAGCCCCTACCCATGGGGCATAGCTGAGGGAGGACCCCTGTCACCATCCAGAAAGACCATCCCCTGATTCCCCAAATGCCCCAGCAGAATATCTTCCAGGCTGCTTGCTCAGCCTCTGCCCTGCCAGGAAAATGAGCACCTTCTCTAGGGCATCCACAAAAATGAAGTTGGAAAGTGTCCTGAGAACACTGCATACTACCCAGAGAGGTTTGGAGGCTGAGACACTGGGACACAGGAAGAGCTATTTTGCTGAGGGGAGTAGAAGGGATTCATGTTTAACAGGGAAAGGGAGCCTGGGGGAACCGTGAGAGCAGCCAAGGACAATCAGGCTGAGGCCATGAACCAAAGCCACCACGAGCCCCTAGCTGGCAGTACCTATAGGGAGCAGAGTTGCACAGTGTGGTCACGATGGCTGCACTTAAACAACTGCCAGGTGCTTCATACATACCTTCTCCCTAATCAGCAATCAGCGTCACTCCACTATGTGCGTTTCTGGCCCCTAAACTCTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCGGCCTCAATCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGGCCAGCCTGGTCTTGATCTCCTGACTTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCTAAACTCTTTTCCAAGCCATCGTTGCATTTAGCCTTTGCAGCAAAAGTGTGCATCGGAGAGGAGACATGACCCTCCTTGCAATACAGGGAAACTAAGTCTCCCACAGGTGAAAGGACATACCCAAGGTCTTTACAGCTAGAATTTAGAAGGGCCCAGAATAGATCCCTGACCTCTGAGTTCCATGCTCAGTCCTTGGGCAAGGAATGCTGTTTCCTCATCTGTGAAAGGGATGCTGATTCCAGCCTTGCAGAGTTCCTGGCTGAAAGTGACATAAGGTCATGGCCCAGCGTAGGTCCTCATAAGTGGGAGTTCATTATTACTATTGTTATTGTTGACTCTTAACTTTTCCATCAGCCTTTGCAAAGAAATTCTGTGTGTGGAGAGATCACACTAGCTGAATTCTGAGGCTTCTTCCAGCTTGGGATTCTACATTCCTGTCTCTTCCCCCACATGTCCGTCCCTGGCCCTCCCACAGCCTCTGCAGTTCTTGGAAGCCTGTGGACACTTCCTGATAAGGCAAACGCCAAACCATTTGTTCTTCGTGTTTGCTGGCTTGCCTGGCATCTCCGTGCCCCAC
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ACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTTTGAGACAGAGTCTCACCCTTTTGCTGGGCTGGAGCGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTGGCCAGGAAGGTCTCGATCTCTTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGTCACCACGCCCTGCCTATTATTATTATTATTATTATTTTTAGAAACAGTGCCTCTCTATGTTGTCCAGGCTGGTCTCAAACTCCTGGCCTCGAGTCATCCTCCTGTCTCAGTCTCCCAAAGTGCAGACATTATAAGAGTGAGCCACTATGCCCGGCCTATTTTCTGCATTTTCTAACATACACATGCACTATCTTAAAGCACAAAAAAAGCTATTAACAAAGAAATAATTAAAAGTAATTAGCTATAAGTTGTCAGTTTAAAAAAATCTGGACTGCTATATTCAACAAAGTTGTTTACATTCTAGATTTCAAGGCCCCTCAGAAGCACCTCCCTGTGTAAATGAGGGTTCTTGCCTCCAGAAGGTGGCCCCACAAATGAGGAGTGAAAAGTAACAGCCGAATGGCCCCACTGTTGTACTAATCTTGTTTGTTTAAAGAGAAACTACAGACACTCTCTCTATTAAAGAAAAAAAGAATGAGGAGAGACCGAGAGAATTAGAATGTGCTATATACATTACAAGATCAAAACCAGTTTAGGCCCAAGTCTTCTTGTAATTTCATCTTTTTCCTCCCTGAGGGGGTTGGGAAGCCCTCTCTTACCACAGGTTAAGAGGCGAGAGGTCTGGTGGAATTTCACATCCACAGTGCCCTTAGGAAAAGCTGGGTGTTTTTGGCAGATTGAAGCATTCTTTTTCCAGGCTGTGCTTTCACTACTGGGTACAGATAATGTGGCTTAAAGAGCTAATCGGGAGCTGGAACAGACAGAAATTCAAGAGCAGAGAGGCATCAGGACCTAGAACTTGGCCTAGACTCAGAGAGAGCTGATTCAAAGCTCAGAGCCACCAGGGACCTGCTGGGCGACCCTGGATCCATCACCAAGCCTCAGTTTCCATGTTGGAAACAAAGGGAGAACGACGTCTGGGCTCAGAGTTAGGAAAGCACTCTGTTAGCTATAAAGCAAGCTACATGGCAGAGTCGCCCTCAGCATGTGACCCCGCTTCAAGCCTGCCATCCAGTCTGGGATGTCAGACCCAGGGTTCTACTGGCAGGTTAGAGAAGAGGAGTCAGGTGGGAGACTTGGAAGATTTGGTACAACACATGGAAGATTTGGTACAACACAGAAGTTTCTGCGATTTCCTCAGACTAACCCTTAATTAACTACAAACCACGGTCTACGCCTCCTTTCCATCAATTATCTTATTTCACCTTCATAGCCAGCCTTGGAAGTGGACTTAGGTGGGTCTGTATGGCAGACAAGGTCCTTGAGGCTTAGATAACTAGAGTCTCTAGGGTAGGCCTAAGTCACACAGCAAGGCAGGTCCAGGGCCAGGATTTGAACCCAAGCCTCAGTCCTGAAGGATGCCCAAGGAACATAGATGCTGACACGCCACACTTTTCTTCCTTCCAGGCAAACATGAAGAGAAACAGCAAGAAGGTGGCATTGTTTCTAAGAACTTCACAAATAAAATCCAGTAAGTAACCTGGAGTCATGGAGCTCAGGGTGGGAGTGGAGGAGGGGGCACACCTGGGACCCATGATCTGGGGTCTCTCCCTCTTGGGCATCTCTCTTTTAAGACACCTCCTTGGGGCAGGGAATTGAACCCTCACACCTAACGAGGAGAAAATATCCCAGCAGACCTGTAATAGGGTCCCAGAAGGGGGAGCACATAGATTGCATCATCTCATCTGCTCGGTGCCCTGTGAGGTGGGTATTAAAAACCCCATTTTATTTATTTATTATTTATTTATTTATCTTGAGACCGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGCGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGGTCCGTGTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACCATGTCCGGCTAATTTTTTGTATTTGTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCACACTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCCGGGGAACAACTCCCTTTTATAGACTAAGCATCTGAGGGTAAGCAAGACAATGACTTGTCCACAATCACACAGCCCCTACCCATGGGGCATAGCTGAGGGAGGACCCCTGTCACCATCCAGAAAGACCATCCCCTGATTCCCCAAATGCCCCAGCAGAATATCTTCCAGGCTGCTTGCTCAGCCTCTGCCCTGCCAGGAAAATGAGCACCTTCTCTAGGGCATCCACAAAAATGAAGTTGGAAAGTGTCCTGAGAACACTGCATACTACCCAGAGAGGTTTGGAGGCTGAGACACTGGGACACAGGAAGAGCTATTTTGCTGAGGGGAGTAGAAGGGATTCATGTTTAACAGGGAAAGGGAGCCTGGGGGAACCGTGAGAGCAGCCAAGGACAATCAGGCTGAGGCCATGAACCAAAGCCACCACGAGCCCCTAGCTGGCAGTACCTATAGGGAGCAGAGTTGCACAGTGTGGTCACGATGGCTGCACTTAAACAACTGCCAGGTGCTTCATACATACCTTCTCCCTAATCAGCAATCAGCGTCACTCCACTATGTGCGTTTCTGGCCCCTAAACTCTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCGGCCTCAATCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTTGGCCAGCCTGGTCTTGATCTCCTGACTTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCTAAACTCTTTTCCAAGCCATCGTTGCATTTAGCCTTTGCAGCAAAAGTGTGCATCGGAGAGGAGACATGACCCTCCTTGCAATACAGGGAAACTAAGTCTCCCACAGGTGAAAGGACATACCCAAGGTCTTTACAGCTAGAATTTAGAAGGGCCCAGAATAGATCCCTGACCTCTGAGTTCCATGCTCAGTCCTTGGGCAAGGAATGCTGTTTCCTCATCTGTGAAAGGGATGCTGATTCCAGCCTTGCAGAGTTCCTGGCTGAAAGTGACATAAGGTCATGGCCCAGCGTAGGTCCTCATAAGTGGGAGTTCATTATTACTATTGTTATTGTTGACTCTTAACTTTTCCATCAGCCTTTGCAAAGAAATTCTGTGTGTGGAGAGATCACACTAGCTGAATTCTGAGGCTTCTTCCAGCTTGGGATTCTACATTCCTGTCTCTTCCCCCACATGTCCGTCCCTGGCCCTCCCACAGCCTCTGCAGTTCTTGGAAGCCTGTGGACACTTCCTGATAAGGCAAACGCCAAACCATTTGTTCTTCGTGTTTGCTGGCTTGCCTGGCATCTCCGTGCCCCAC
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Task1_train_18827
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Here is a variant affecting CIT (citron rho-interacting serine/threonine kinase) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Microcephaly 17, primary, autosomal recessive
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TAGTGCTGAGGTTACACTGTCAATGTACCTTGCTTCAATTTATTTCTAAATCCATGATTTTTTTTTAATTTCACGAATGCAGCATATAAATTTGTTTTAAGACAGGGTCTTGTTCTGTCGCCCAGGCTGGAATGCAATGGTGCAAACACGGTCATTGCAGCCTCAACCTCCTTCGCTCCAGCGATCCTACTGTCTTGGCCTCCCATGTGGCTGGAGCTACAAGCATGTACTACCATGTCTGGCTAATTTTTTGATTTTTTGTAGAGACTAGGTCTCATTTTGTTGCCCAGGCTGGTCTCAAACTCCAGCAATCCTCCCGCCTCGACCTCCAAACGTGCTGGGATTACAGGTGTGAGGCACTACACCCGGCCCATATAAATGTTTAATCCTAAGTGATAAAACTGCATTATTTTAACTTTTTTTCTGTGCTTTATTCCACTAAATTTAATACCTAAGTTTTCATGCCTGTTTCTAAATTGTACATAATTTTTAAAACATAAAATGCTTTGTAGTTATAGCAATATAATCTAATTCTTAATGTAATGATCAAGTGAACAGATTACAAGAAAATAACCTGAAAAAAAGAATAGTGCTGAGGTTGAGAAACTTTGACACTGGACAACATAGGGAACTTATTTTTCCAAGGGCCTGAACACCAAGAAAATTATCTCAAGTAGGTCTCAGGTCTGCAGAACAGACAGGCCAGATGCTAGAAAGCAAAAAGTTAATGCAACTCCAAGCCTTTTCTTAACATCAACCTAATAATATCCACTTTTCTGGAAGCAGTTTAAGAAAAAAAAGAGCCGGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGAGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCTTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAGAAAAAAGAAAAAGAAAATTTTACATATTGTCCTTTATGTAAAGGATTTAACTCTCAGACTTGGGGGGCATTTTGAAGAGCAGCTTCTCTAACCTCTTAAATTATGCATTTTCACTAGCATCAGTTTTTTCTAGAGAAAGTATAAAAGATCAAGTTCCCAAGGATTTGTCTAGGTCACCAAATGGCTCAGTTGTAAAATCAGTCTTAAAACCTAAGTCGATTTTCTCTTAGACCTATCCTTTTTTGCGGAGTTGACTTCCAAATTCATATTTTAGTACATACCAACTTTATTAGAAGATTTTTAAACTCTAATCTTTTTTTACTTTGTCATCTTTTTCCTAAAGTAGTCTCACTCTTGATCTCAGTAGCTACCCTCCTGCCGTCCTACTTAGCATGTGGAATACAGTTTAATTTCTACCAAAGATCCAAGACTTAAAAATGATATTTTGAGCACTTGGTTCTTAACACTTAAGGATATTTGGTTCAAATGCTCCAGTGATTAATTTCAATTTTGCTGCATAGGAAATAGAGGATTTGACATGCAGGAGTTTCCATTTCATCAAAATATTTTAAAGTAAAAAAGATAATATAACAAAAGACAGTCTATAACAGGCAAGGAAAATGAAGAGAGAAACAAAATAAGCATTTTCCTTTATTTCTAACCAAACTATAACAATGCTCCTAAAAATGTCTTGGAGGGTATTAACAGGCACTATAAATAAAAAGGTGCCACGGTCTGGGAAATGGTTCTGTGTCCCTGTCCCCACCCCCATACACTGCCAAAGGCTCCAAAACATTGTTCACCATTTTATCCCAACACTTCCCAAACTTAGGAGGACCAAGAATACTTTTTAGTATAAACTCTATTAAGCTATCTTATTCCATTTTTTACCATCTTGTTTGAATTCATTTTCGCGGCAGATCCAAAATCCACCAGCTTGATGTGTCCTGTGCGGTCAACGAGAATGTTCTCAGGCTTGATGTCTCTGTAAGAAAATCAGGACCATGAATTGCCTCCTCCATCCCAATCAGCAAGCAAGTGCTAACCTAGAATCTCAATTGAGCCAAAAATCTTTGTTTATGTATTCTGTTATATAGACCTCCTCTATTGGTGGATATAAATTATTAGCATACATTTTGCAAAATGAATTTAACCGAAAGGAAGGAAGGAAGGAGAGAGAGAGGGAGAGAGGGGGAAAGAGAAAAAGGGCGAGAGGGAGCAAGGAAGGATAGGAGAGAAAGAAAAGGAAGAGAAATGAAACACATATTATTCAATGGATTATTTCTCCTAGAGACACACATTTCACATGAGGAAAACTAAGGCCAAAAGGAGCTATGAAATTTTCCCAAGGTCATGTAGCTAGGCAATGGAAAAGCTGAGACTCTATCTCAAATTTTGTGATTCCTGGACTAACAATCATTGTATTCCCACAACATTCTCAGATGTACACAAAACATCAGATGAATGAAGACATGAAGAACCACTTACCAACTGAGGATTTTGTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGACAAGGTGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACCTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGCGGTGCGTGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGCAGGCGGAGGTTGCCATGAGCCAATATGGTACCACTGCACTCCAGCCTGGCAACAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTGTAAATTCTAACGGGCAGAGTTAGAGAAGTACAGCTCCATGGTCTTACACTACTATGTGGTATGACATTTCCTTCTGCAAACCAAATTCAGTTCTTCTATCATATAACCCAAAGAACTCATGCAAGAGTTCCCAGTCTTATTTAGCTACATTAATAGATATTACTAGCAAACTTGAGCACATTACAATTCTAGATCTATTGCACTGCTGGATAAGCAAGCTGAAATGTCCTCCATCTTGGAAAGTTTGCTTTCAGCCAGTTATTGGTAGACTGGCTAAAAACTGGATGGGGCGTTATCTTGATCTTGAAATCACTCATCCACTCATTTCCATGCAGGAACTCTTATGCGACACAGGAAAATCCTCAGCATAAAAATGCTACCAGAGTCTCACTTACCGATGCACGTATCCCATCAGATGAACGCTGTGAACAGCCAAAATCAGCTCAGCTAGGTAAAACTGTATCAGGTTTTCATCTAACTGGTCCTCATATCTATTCAAAAGTGACAGCAAGTCCCCTCCAGGCTGATATTCCATGACCTGTATAGAATGCCAAAGTTATTAATTCTTCACACACCCAAAAATAGGGAATGCCTCAATTAGATCCTCGAATATCACCTGACGTGTTATAATAACAAGGTCTCCACAAAGCAAAGAAGATGTGTAAGGCACGCTGTAAGTCATGTAGGATGAAGTCCCTGCCCTAAGGAAATTACATCTGTTACCCAGGGGAATCAATATAATGAAAGACTAGTCCCAGACACCATGCACAGTGTTTGCAAGGCAAGCTTGAACAGTTGAATTAAATCCACCCACTTTCCCACCCACAAGTTGACACCCCAGACATTCCCTAGGATTAGGTACAGTGTAGACGGATATTCCTAGAGGGCAACCACTCTTATATCCTTTCTGTATTCCCCTCAGCACCCAGCAGAATACAGAAGGCTTGCAATAAATGTGATACAATCTTTTCCTTTTATAGTCAGTGTGGAAGGCAACTGACAGCCTCTATTCAAAATTTAAATGTGAAAATATCCCCTTTGACCTAGTAATTCCACTTCTAACAATTTACAGGTACTTACAATAGTTTGCAGATAAATAGAAAGATAAATAGATTCCTTGCAGTATTGTTTGTAACAGGGGAAAAAAACATGGAAATCATTCAGCTATCCATCAGTTAGAGACTGGCTAAAA
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TAGTGCTGAGGTTACACTGTCAATGTACCTTGCTTCAATTTATTTCTAAATCCATGATTTTTTTTTAATTTCACGAATGCAGCATATAAATTTGTTTTAAGACAGGGTCTTGTTCTGTCGCCCAGGCTGGAATGCAATGGTGCAAACACGGTCATTGCAGCCTCAACCTCCTTCGCTCCAGCGATCCTACTGTCTTGGCCTCCCATGTGGCTGGAGCTACAAGCATGTACTACCATGTCTGGCTAATTTTTTGATTTTTTGTAGAGACTAGGTCTCATTTTGTTGCCCAGGCTGGTCTCAAACTCCAGCAATCCTCCCGCCTCGACCTCCAAACGTGCTGGGATTACAGGTGTGAGGCACTACACCCGGCCCATATAAATGTTTAATCCTAAGTGATAAAACTGCATTATTTTAACTTTTTTTCTGTGCTTTATTCCACTAAATTTAATACCTAAGTTTTCATGCCTGTTTCTAAATTGTACATAATTTTTAAAACATAAAATGCTTTGTAGTTATAGCAATATAATCTAATTCTTAATGTAATGATCAAGTGAACAGATTACAAGAAAATAACCTGAAAAAAAGAATAGTGCTGAGGTTGAGAAACTTTGACACTGGACAACATAGGGAACTTATTTTTCCAAGGGCCTGAACACCAAGAAAATTATCTCAAGTAGGTCTCAGGTCTGCAGAACAGACAGGCCAGATGCTAGAAAGCAAAAAGTTAATGCAACTCCAAGCCTTTTCTTAACATCAACCTAATAATATCCACTTTTCTGGAAGCAGTTTAAGAAAAAAAAGAGCCGGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGAGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCTTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAGAAAAAAGAAAAAGAAAATTTTACATATTGTCCTTTATGTAAAGGATTTAACTCTCAGACTTGGGGGGCATTTTGAAGAGCAGCTTCTCTAACCTCTTAAATTATGCATTTTCACTAGCATCAGTTTTTTCTAGAGAAAGTATAAAAGATCAAGTTCCCAAGGATTTGTCTAGGTCACCAAATGGCTCAGTTGTAAAATCAGTCTTAAAACCTAAGTCGATTTTCTCTTAGACCTATCCTTTTTTGCGGAGTTGACTTCCAAATTCATATTTTAGTACATACCAACTTTATTAGAAGATTTTTAAACTCTAATCTTTTTTTACTTTGTCATCTTTTTCCTAAAGTAGTCTCACTCTTGATCTCAGTAGCTACCCTCCTGCCGTCCTACTTAGCATGTGGAATACAGTTTAATTTCTACCAAAGATCCAAGACTTAAAAATGATATTTTGAGCACTTGGTTCTTAACACTTAAGGATATTTGGTTCAAATGCTCCAGTGATTAATTTCAATTTTGCTGCATAGGAAATAGAGGATTTGACATGCAGGAGTTTCCATTTCATCAAAATATTTTAAAGTAAAAAAGATAATATAACAAAAGACAGTCTATAACAGGCAAGGAAAATGAAGAGAGAAACAAAATAAGCATTTTCCTTTATTTCTAACCAAACTATAACAATGCTCCTAAAAATGTCTTGGAGGGTATTAACAGGCACTATAAATAAAAAGGTGCCACGGTCTGGGAAATGGTTCTGTGTCCCTGTCCCCACCCCCATACACTGCCAAAGGCTCCAAAACATTGTTCACCATTTTATCCCAACACTTCCCAAACTTAGGAGGACCAAGAATACTTTTTAGTATAAACTCTATTAAGCTATCTTATTCCATTTTTTACCATCTTGTTTGAATTCATTTTCGCGGCAGATCCAAAATCCACCAGCTTGATGTGTCCTGTGCGGACAACGAGAATGTTCTCAGGCTTGATGTCTCTGTAAGAAAATCAGGACCATGAATTGCCTCCTCCATCCCAATCAGCAAGCAAGTGCTAACCTAGAATCTCAATTGAGCCAAAAATCTTTGTTTATGTATTCTGTTATATAGACCTCCTCTATTGGTGGATATAAATTATTAGCATACATTTTGCAAAATGAATTTAACCGAAAGGAAGGAAGGAAGGAGAGAGAGAGGGAGAGAGGGGGAAAGAGAAAAAGGGCGAGAGGGAGCAAGGAAGGATAGGAGAGAAAGAAAAGGAAGAGAAATGAAACACATATTATTCAATGGATTATTTCTCCTAGAGACACACATTTCACATGAGGAAAACTAAGGCCAAAAGGAGCTATGAAATTTTCCCAAGGTCATGTAGCTAGGCAATGGAAAAGCTGAGACTCTATCTCAAATTTTGTGATTCCTGGACTAACAATCATTGTATTCCCACAACATTCTCAGATGTACACAAAACATCAGATGAATGAAGACATGAAGAACCACTTACCAACTGAGGATTTTGTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGACAAGGTGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACCTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGCGGTGCGTGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGCAGGCGGAGGTTGCCATGAGCCAATATGGTACCACTGCACTCCAGCCTGGCAACAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTGTAAATTCTAACGGGCAGAGTTAGAGAAGTACAGCTCCATGGTCTTACACTACTATGTGGTATGACATTTCCTTCTGCAAACCAAATTCAGTTCTTCTATCATATAACCCAAAGAACTCATGCAAGAGTTCCCAGTCTTATTTAGCTACATTAATAGATATTACTAGCAAACTTGAGCACATTACAATTCTAGATCTATTGCACTGCTGGATAAGCAAGCTGAAATGTCCTCCATCTTGGAAAGTTTGCTTTCAGCCAGTTATTGGTAGACTGGCTAAAAACTGGATGGGGCGTTATCTTGATCTTGAAATCACTCATCCACTCATTTCCATGCAGGAACTCTTATGCGACACAGGAAAATCCTCAGCATAAAAATGCTACCAGAGTCTCACTTACCGATGCACGTATCCCATCAGATGAACGCTGTGAACAGCCAAAATCAGCTCAGCTAGGTAAAACTGTATCAGGTTTTCATCTAACTGGTCCTCATATCTATTCAAAAGTGACAGCAAGTCCCCTCCAGGCTGATATTCCATGACCTGTATAGAATGCCAAAGTTATTAATTCTTCACACACCCAAAAATAGGGAATGCCTCAATTAGATCCTCGAATATCACCTGACGTGTTATAATAACAAGGTCTCCACAAAGCAAAGAAGATGTGTAAGGCACGCTGTAAGTCATGTAGGATGAAGTCCCTGCCCTAAGGAAATTACATCTGTTACCCAGGGGAATCAATATAATGAAAGACTAGTCCCAGACACCATGCACAGTGTTTGCAAGGCAAGCTTGAACAGTTGAATTAAATCCACCCACTTTCCCACCCACAAGTTGACACCCCAGACATTCCCTAGGATTAGGTACAGTGTAGACGGATATTCCTAGAGGGCAACCACTCTTATATCCTTTCTGTATTCCCCTCAGCACCCAGCAGAATACAGAAGGCTTGCAATAAATGTGATACAATCTTTTCCTTTTATAGTCAGTGTGGAAGGCAACTGACAGCCTCTATTCAAAATTTAAATGTGAAAATATCCCCTTTGACCTAGTAATTCCACTTCTAACAATTTACAGGTACTTACAATAGTTTGCAGATAAATAGAAAGATAAATAGATTCCTTGCAGTATTGTTTGTAACAGGGGAAAAAAACATGGAAATCATTCAGCTATCCATCAGTTAGAGACTGGCTAAAA
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Task1_train_18828
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Here is a genetic alteration in CIT (citron rho-interacting serine/threonine kinase) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal recessive primary microcephaly
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GTCAGTCAAAGCCAGTCTGCCAATAGATTCATATGTGAATGTCCTCACTCAGAGGACAAGGAAAACTTCTCTCCAGGCACTGGGTTCTCAACTAATATGAAACCAAGACACATAAACTTATTTATTTTAGGTCAGGAATAAAAGCAGCAAATTCCCCAAAAACGGGCCAGTAGAAGTTTAAGATAAGTGGGAGTTCATCCCTCTTACCCTTTTCTCTTACGTGAGCCTGTTTATCTCCATTCAAGGTAACATGATAGTCCTCTTTTAAGGGCTGAATCAGGAACAAAAATTGTTTCCAGGATACACTTGTTAAATTTAGGAATTTAATCCCTCAAGAACCTAAACAAGGCCCCAAAATGAATTTTAGCATTCTCTAACTTATGATATATACACATCAGGGAAAATTATGCCACTGCTCAAAGAATAAAGTAGACCTGCGTTACTGACAAGGAAGAAAGGATGTCTGGGATACACTGGTGAAAGGCAACAGCAAGCTGGAGAGCCAAGCACAGAGTAACATACCATTTTTATAAAGTAAACTATACACATGTGGATATAGAAATATCCCCCACCGGAGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGAAGATCTCTTGAGCTCAGGACTTCGAAACCAGCCTGGGCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCACAGTGGTGTATGCCCGGGAGGCTGAGGTGGGAGGTTTGCTGGAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGTTCATGCCACTGAACTCCAGCCTGGGTGGCAAAGTGAGACCTGGTCTCAAAAAAAGAAGAAAAGAAAAGAAACATCCCCCACCATGCTCCTACAGAGCACAGTTAAGGGTCAGAAAGGGAAAGCTTATGTAACCATTTAACATTTCTTCCCCTAGGGAGGAGGATTAGAAAATAAAACGGAGAGGCCGGGCACAGTGGCTCACTCCTGTAATCACAACACTTTGGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGCGGCCAGCCCGGCCAACGTGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGTTGGGCGTGGTGACACGTGCCTGTAATCCCAGCTACTAGGGAAGCTGAGGCAGAAGAATCTCTTGAACCTGGGAGGTGGAGATTGCAGTGAGCCGAGATAGTGCCACCGCACTCCAGCCTGGGTGACAAAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAAAGAAAATGGGGGGCTTTCCCTTCAACTTCATGCATGTCTGCAGTGTTTGCATTTTCTTATAACAACCATGCACTATTATCATTTTTTTAATCCTAAGCAAGCTAACACAGGAAGTTTTTAAAAATTAAAGCAAGATTATCTTATACATAATGACAGACTATTCCCCAATAAATGATTCCCTATTATTGCCTGAAAGCCACAGCTACAATATCCAACTGTCAATGAGGCTGTTTCTTTTTTTTTCTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAAGCGATTGTCCTGCCTTAGCCACCTGAGTAGCTGGGACTACAGGCACCCGACACCATGCCCGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGTTCAGCCCAATGAGGCTGTTTCTAAATGGGTTAGCTCTTGATCTTTATAACGAGGAAACCAGGGAGACACCTGTAAGGTAAGAAAGTCTTTGCATGAATGAGACCACATGGGCAAGAACAACATTCAGTTCTACCACAGGCATCTGAGTGTCAGAGTGCTAGGCTAATTCCAGAGAGACAGATGTAAAGACTCACCAGATAAAGGTGATTTTTGTCCTGAAAGGCATACTGTAATTGGGGGATCCACGGGCTTGTGCTTCGAGATAATATGTTCCGCTCTTCCTCAAAAAATGAAACCTAGGGAAAAAAGAAACTGCTTAGACAATTATAAAGAACTGTGAGAGGAAAAAGAAGCCTTTTCCTCTGTCTTTATGCCTAAACTGATGTTTCTAGCTTTAAAAAAAAAAAAAGGCAAAGGAAAGAAGGGAAAAGAAAACAGAAGGAAGGAAGGAAGAAGAGGGAAAGGGAAGGAAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGAAAGGGAAGGGAAAGGGAAGAAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGCTGTCACTTAGCCCAGAATTGCATAAATCTCAATCATTCACCTACTTTGGTCACAATTTTTGCCAGCTCCGTATATTACCTGCTCAATTCTTTACCTAACATATTTCTTTAAACTACCTTTCTTTAAATGTAAATATTTTTCTCTTCCTCTTCTCTTCCTGAAGCCATTCACTGGTGTGGAACAAGGTAAGCATCCACGCTAGTTATGAGAAAAGTCATGGTGGCCCAGGACACAGTGCCGTCCCAAGCAACGTGAGGAGGGCAGCACTCATGTGTGGGGGCAGCCCAGTATCACAGGCCCACACAGGGTAAGGAAGACATCCACGTGAAAGGGCAACCCAGAGCAGATTATCTGGACCCACCAAGGGGAGGTGGGATACCAACAAAGACAGTAGATTGGATGCATACAGATGCATAAAATAAGTAAACATATTAAGGGTATAATGTCAGAGAAGAGAATTACAAACATGGAAAGGGTGAAAACTAAAATGAACCCTGTGAAGTTGGATTGGAACTGGGGGCACGGGTGTGAACTCATGGTTTTCCCTTTTTATTTTTGTAGAGACAGAGTCTCTCTCTGTTTCCCAAGCTGGTGTTGAACTCCTGGCTTCAGGTGATCCTCTTGCCTCAGCCTCCCAAAATGCTGAGATTAAAGGCATAAGCCACTGTGCCCAGCCACAATTTTCAATATATAGACATGGATACACAAATATAGATGTAATGTATATGTGTGTGTGTGAGTGCACGCACATGTGTAGGTGGATATATTGTATATACGTATGTGTATTCCTTAGTGCTGTCCACTGAAAGGGGTCTGGGAGTAGTGACACACCGGTAGCAATGAAAACACCCAATGTCCAGATCTTGGCCTCTAAACACCATTGTCCACTGAAAGGCACAGGGCTCCTCTGAGAAATGACTGATGCCAGAGCCAGGGCAGAGAAAGTAAAAGTACCAAAAGAACCTGAACATCTTGCTATACCAGAAAGCAGGAAAGTATTCAATGAATCTTGGAGACATGTGAAAAGGACACAAAAGCTAACCTAAAAAGGTTCTCAGTGGCCAAGTTGGGAACAATTTAAGTATAAAACTAGTGACAGAAATGGATTATAACTCACTGACTGAAATAGGAAAATCCAAGTCCACATAGATATAAAATATTTCCATCACTTGAAAGTAACTCCCCATAAAATACTTTTTTAATTACAAAGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCCGGAAGACTGCTTGAGGCCAGGAGTTACAGACCAGCCTGGACAACACAGTGAGACCCCATCTCTACAATACAAAAAGTAGCTGGGTGTGGTGGTGTTCGCTTACAGTCCCAGTTACTCAGGAGGCTGTGGCAGGTGGATTACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCTTGGGCAACCAAGCAAGACCCTGTCTCTAAGAAAAATAAAATAAATAAAATCACGAAGGAGGAAGGAGTAACCCTACAAGTAGAAAGGCATAACTGACACCACCTTAATCAAGTGATCAAAGTGAGCATCAACATAAATGTGATCAACTGAAACAGAGAGTCTTCTGCTCTGATGCAATAAGAACAGAGCATCTTGTCTGAGATATTCCGGCCAAAGACCAAGACCCTAAATCTAAACATAAGCAACATCAGACAAATT
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GTCAGTCAAAGCCAGTCTGCCAATAGATTCATATGTGAATGTCCTCACTCAGAGGACAAGGAAAACTTCTCTCCAGGCACTGGGTTCTCAACTAATATGAAACCAAGACACATAAACTTATTTATTTTAGGTCAGGAATAAAAGCAGCAAATTCCCCAAAAACGGGCCAGTAGAAGTTTAAGATAAGTGGGAGTTCATCCCTCTTACCCTTTTCTCTTACGTGAGCCTGTTTATCTCCATTCAAGGTAACATGATAGTCCTCTTTTAAGGGCTGAATCAGGAACAAAAATTGTTTCCAGGATACACTTGTTAAATTTAGGAATTTAATCCCTCAAGAACCTAAACAAGGCCCCAAAATGAATTTTAGCATTCTCTAACTTATGATATATACACATCAGGGAAAATTATGCCACTGCTCAAAGAATAAAGTAGACCTGCGTTACTGACAAGGAAGAAAGGATGTCTGGGATACACTGGTGAAAGGCAACAGCAAGCTGGAGAGCCAAGCACAGAGTAACATACCATTTTTATAAAGTAAACTATACACATGTGGATATAGAAATATCCCCCACCGGAGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGAAGATCTCTTGAGCTCAGGACTTCGAAACCAGCCTGGGCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCACAGTGGTGTATGCCCGGGAGGCTGAGGTGGGAGGTTTGCTGGAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGTTCATGCCACTGAACTCCAGCCTGGGTGGCAAAGTGAGACCTGGTCTCAAAAAAAGAAGAAAAGAAAAGAAACATCCCCCACCATGCTCCTACAGAGCACAGTTAAGGGTCAGAAAGGGAAAGCTTATGTAACCATTTAACATTTCTTCCCCTAGGGAGGAGGATTAGAAAATAAAACGGAGAGGCCGGGCACAGTGGCTCACTCCTGTAATCACAACACTTTGGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGCGGCCAGCCCGGCCAACGTGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGTTGGGCGTGGTGACACGTGCCTGTAATCCCAGCTACTAGGGAAGCTGAGGCAGAAGAATCTCTTGAACCTGGGAGGTGGAGATTGCAGTGAGCCGAGATAGTGCCACCGCACTCCAGCCTGGGTGACAAAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAAAGAAAATGGGGGGCTTTCCCTTCAACTTCATGCATGTCTGCAGTGTTTGCATTTTCTTATAACAACCATGCACTATTATCATTTTTTTAATCCTAAGCAAGCTAACACAGGAAGTTTTTAAAAATTAAAGCAAGATTATCTTATACATAATGACAGACTATTCCCCAATAAATGATTCCCTATTATTGCCTGAAAGCCACAGCTACAATATCCAACTGTCAATGAGGCTGTTTCTTTTTTTTTCTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAAGCGATTGTCCTGCCTTAGCCACCTGAGTAGCTGGGACTACAGGCACCCGACACCATGCCCGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGTTCAGCCCAATGAGGCTGTTTCTAAATGGGTTAGCTCTTGATCTTTATAACGAGGAAACCAGGGAGACACCTGTAAGGTAAGAAAGTCTTTGCATGAATGAGACCACATGGGCAAGAACAACATTCAGTTCTACCACAGGCATCTGAGTGTCAGAGTGCTAGGCTAATTCCAGAGAGACAGATGTAAAGACTCACCAGATAAAGGTGATTTTTGTCCTGAAAGGCATACTGTAATTGGCGGATCCACGGGCTTGTGCTTCGAGATAATATGTTCCGCTCTTCCTCAAAAAATGAAACCTAGGGAAAAAAGAAACTGCTTAGACAATTATAAAGAACTGTGAGAGGAAAAAGAAGCCTTTTCCTCTGTCTTTATGCCTAAACTGATGTTTCTAGCTTTAAAAAAAAAAAAAGGCAAAGGAAAGAAGGGAAAAGAAAACAGAAGGAAGGAAGGAAGAAGAGGGAAAGGGAAGGAAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGAAAGGGAAGGGAAAGGGAAGAAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGCTGTCACTTAGCCCAGAATTGCATAAATCTCAATCATTCACCTACTTTGGTCACAATTTTTGCCAGCTCCGTATATTACCTGCTCAATTCTTTACCTAACATATTTCTTTAAACTACCTTTCTTTAAATGTAAATATTTTTCTCTTCCTCTTCTCTTCCTGAAGCCATTCACTGGTGTGGAACAAGGTAAGCATCCACGCTAGTTATGAGAAAAGTCATGGTGGCCCAGGACACAGTGCCGTCCCAAGCAACGTGAGGAGGGCAGCACTCATGTGTGGGGGCAGCCCAGTATCACAGGCCCACACAGGGTAAGGAAGACATCCACGTGAAAGGGCAACCCAGAGCAGATTATCTGGACCCACCAAGGGGAGGTGGGATACCAACAAAGACAGTAGATTGGATGCATACAGATGCATAAAATAAGTAAACATATTAAGGGTATAATGTCAGAGAAGAGAATTACAAACATGGAAAGGGTGAAAACTAAAATGAACCCTGTGAAGTTGGATTGGAACTGGGGGCACGGGTGTGAACTCATGGTTTTCCCTTTTTATTTTTGTAGAGACAGAGTCTCTCTCTGTTTCCCAAGCTGGTGTTGAACTCCTGGCTTCAGGTGATCCTCTTGCCTCAGCCTCCCAAAATGCTGAGATTAAAGGCATAAGCCACTGTGCCCAGCCACAATTTTCAATATATAGACATGGATACACAAATATAGATGTAATGTATATGTGTGTGTGTGAGTGCACGCACATGTGTAGGTGGATATATTGTATATACGTATGTGTATTCCTTAGTGCTGTCCACTGAAAGGGGTCTGGGAGTAGTGACACACCGGTAGCAATGAAAACACCCAATGTCCAGATCTTGGCCTCTAAACACCATTGTCCACTGAAAGGCACAGGGCTCCTCTGAGAAATGACTGATGCCAGAGCCAGGGCAGAGAAAGTAAAAGTACCAAAAGAACCTGAACATCTTGCTATACCAGAAAGCAGGAAAGTATTCAATGAATCTTGGAGACATGTGAAAAGGACACAAAAGCTAACCTAAAAAGGTTCTCAGTGGCCAAGTTGGGAACAATTTAAGTATAAAACTAGTGACAGAAATGGATTATAACTCACTGACTGAAATAGGAAAATCCAAGTCCACATAGATATAAAATATTTCCATCACTTGAAAGTAACTCCCCATAAAATACTTTTTTAATTACAAAGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCCGGAAGACTGCTTGAGGCCAGGAGTTACAGACCAGCCTGGACAACACAGTGAGACCCCATCTCTACAATACAAAAAGTAGCTGGGTGTGGTGGTGTTCGCTTACAGTCCCAGTTACTCAGGAGGCTGTGGCAGGTGGATTACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCTTGGGCAACCAAGCAAGACCCTGTCTCTAAGAAAAATAAAATAAATAAAATCACGAAGGAGGAAGGAGTAACCCTACAAGTAGAAAGGCATAACTGACACCACCTTAATCAAGTGATCAAAGTGAGCATCAACATAAATGTGATCAACTGAAACAGAGAGTCTTCTGCTCTGATGCAATAAGAACAGAGCATCTTGTCTGAGATATTCCGGCCAAAGACCAAGACCCTAAATCTAAACATAAGCAACATCAGACAAATT
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Task1_train_18829
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A genomic change on Chromosome 12 affects CIT (citron rho-interacting serine/threonine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Microcephaly 17, primary, autosomal recessive
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CCAGGCGGCAGGCCTTGTCTGCAGAACAGCATCCCTCCCTCCTCTCGGGCACTTCTTTTCCTTCCCTTCACTGCTTGTGCTGGCTTCTCTCATGCCCTTAAATTCCAAATGGCTCAGTTAAGGACCCTACTTTTCTTTTCTATGCATCCTCTTAAGGAATGAATAGGCGGCTTTAGTTAGCGCCTGTATGTGTATAATTTTATAAGCCCCCAGCCCACACTTCCACACGGTCATTTCAGGCCATTCACCTGGAGGAAGGTATACCTATTTGAATATCTCTATTGTTTGCCTGCCGTGTGGCCTGTTGGATTATTTTCTTTTTACACGCACTATTTCCCATCAAAAACATAAGCATCACAAGGTCAGGGCTACACGTAATGCCTCTTCTCCAGGACCTAGAAACACACCAGATACAACAGATGCTCAGGTAGTATGAACTGATGAGACACAGTTCTTTCTCAGGAGCTGGGAGGCTGAGTGAGCATCTTCCACTCCTCTCTTCCAAATTATCTGCCATGTCCTGTCACTTTTCCTTTCTATTATGTGCTCACATTTTATTGCTAAACAAAGAAGCCACATCACTCTCAGATTCTGACAAGCAGCTTCCTGCCCTCCGCTGCTTCTCTGATTGGAGGCCACACAAAGTCATTGAAGTCCACAGGGCCAGACTCTGATCCCAACCTCCTCCTTCCAGAGGCCTAAATAATCCCCAACAGCCTCACAAAGTAAACTGCAATTCAAAAACTGGTTCTTGGGGGAATGGGGAGGTATTGTATAATGGATAGAGAGTTTCTGTTTGGGATGATAGAAAAATTCTAGAAATGGAGAGCGGTCATGGTTGTACAACATCATGAATGCACTGAATACCACTCAGTTGCACATTTAAAAATGGTTAAAATGGTACACTTTATGTTATATATATTTTACCACAATTTTTTAAAAAAAGGTTCTTGAGTTTCCCACCCATTTCCCCCTCCCCACCCAAATGTCCTCATTTCGCCATTTCCCAGTCTGTTCTGAACCACTGAACACACACACACACCCACACACACACACTTGCATAGCATTCTAGTACTCCAGAATGTCACACTTCTACCCAACATGTTCTCATCACTTCTCTCTGCCGAGAACCTACATTTCCCCCCATCGGTGAGAACTGTCCCTAACTGTCCCTTGCTCACCCACAACATCTCCCCTCACATCATCGTTAATTAATTTGCTAATTGCTCTCCCACTTCTGTGATACTTTAGCTGGTAAGCACCTGCTTTATACATTTGCATTTTTCCTCCACTTTCCAAGGTTGTTTTTAAACACTGAAAATAGCAACCATGGGACTTCTATTCCTTTTGCAAGCTTCCTGCAGAGCTGGGTACATTATCAGACATATCATGTGCACTAAAATGTCTGTAAGTAATAAATTACTCTCTGAATTCCAAGGCTGACGGCCATCTCTCTAAAACACAGCAAATGAATCAATATGTCTAGAGACAGTAGCCTTGTTTAAAAGAAAGAAAAATACCACAACAAAAAAGATAACGTTCTACCTGCTCTCAAACAAGCAACTCCCTAGCCACATAACAAAGAATGTTATTTGATTTCTTCAAAGGCCTGTTTTAAAACCAAATCCATATGCCCACAACACAAATACCTAAAGCGTGTACAAAAGCAATCTGATTCACCCCACCATATGTATATCCTGAGTCCTCAGCTAATGGTCATAAAAGATCATCTTAAATTCATTAGCTAAAAGGCCACCTTGGTTCTGAAATAAATTACAACGATAGAAACATGATACATCAAGAGGAATTTGTGAGCCTTCAAAATTAGCCAACATCAGTTCAAGAAGATGAGCTAAGAACATGAGAGACCTTTTTGCCCCAACTATAATTAAATATAGAGTCACAGAGGAAAACGTGCTTGATCCTAGACGCCAGTGCAGCAGATTATCGTCTTTGCAATGAACACTCCGGTACAGAAAGTGGAAAAGCATGATGTTAAAATCCTCCTACCTGCTCCTGGGCCAATAAAGCCTTCTTCTTCATCACTTTCATAGCATAGATGTCCCCGGTTGCTTTCTCTCTTACCACCTGCACTTCAGCAAAGTGACCACAACCTACAAGACTTCTGACTTCGAAGTCCTTTGCCGAAGGCTGGAGCTCCTGTAACTCAGCTATGGTGTCGGAATCTGCAAAAGATGCAAGAGTTAGCCCCAGGTAAATAAAGCATGCAAATATATGCATCTTTATGAAAGAAAAAAAAAAAAGAAAATAGCATTCGGATAGCTTCCCTCACTGTCAAAGACATTCACTTTCTCATCCATCATGAATAATTATAAAATCAGTACAAAAGTGTTTTTATATGTTAAGTTAAAATTAAGGGCTCTAGAAATTCCAAAGTACAGTTTCCATGGCAGCTACAATTTGAATCCCATAGACTCAGAAAATAGGGAGAGAGGATACAAATTATGTTTTCCTTCTTCCTCTCTGAAGGCTGCAGGGCAGTGTTTGGTCAAGCATGCTTATTAGCATTTAGACTGGTTTACAGTGTGACATAGTCAACATGAGTCTAATTTAGACCAACTTGGGACCTGGTTTCCAGATCATTCCATTCTAACTACATGCGCTTAGTTTTATCCCACTAGCCCAAGGTTCATCTTCCTTGGATTGTATCCATAAAGCCTTCGTAGATCTAATATGTGGCAGTGCTTAAAGGGGCAGAGGGGTCCAGGCATGGTGGCTGACGCCTGTAATCCCAACACTTTGGGAGGCCTAGGCAAGTGGATCACTGGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTTGTGGTGCACGCCTGTAATTCCACCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGGCAGAGGACACAATGAGCTGAGATTGTGCCACAGCACTCCAATCTGGGTGACAGAGTGAAACTCTGTCTCCAAAAAAAAAAAAAGGCGTGGGGGCCAGGAGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACAAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACCAAAAACATACAAAAAATTAGCTGGGCATGGTGGTGAGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGCGTGGTGGGCAGAAGGGCTTAGCACTCAGAGAACTAAATGGGGTTCTGACATCTGCTCTGCAGGGCTGACATACTACATGTCCAAATGGATTTGCAACTATAGTTTTCTTACCATACAGTCTTATTATTTTTCCAAGTCTAATCTTTCAGTCAGAGATCCTCAACGTATGAAGTATGGATTAAATGGACAGTAGATTTGGAATCTAACATGTTTATTAACACTCTAGATACACTGATCTGAGACATCGCTAAATGTACGATGACTCTAATGACCTGCAGGAATGAAGGGGAGCAGCAGTGGCTGACCCAAAAATTTAATCCTGCACGTTACAAGGGAACAGCATCATACACAGGCATTACACACCAAGGGCAATGCAATGCTTATAATCAAAATTATCCTGGAAAATCCGGCAGAAAGATGCCACACTGAAGACCAAGAGACTGTCTTAAAATCCCAAACACACACTGGAATCTTCTGGGAACTGGAAGGGATGGCCATTTCAATGGCTGGGCAGCAGATAAGGTTAGGAGCTACATTCCAGAGTCATACTCAGCCCTGCAAGTGGCTCACACAATGAGACAGACTCGGTCCATCAAAGGGAAAGCCATTTCATACCACAGTCAGTGAGTGGCATTTTAATGAATTGGCCAATGTCATTTTTTTCATTTTCTTAGTTTTTTTTTTAAGAGACACAAATGGCTGGGCGCAGTAGCTCACGCCTGTAATCCCAGCATTTTGGGAGGGCGAGGCGGGTGGATCACCTGAGGTCAG
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CCAGGCGGCAGGCCTTGTCTGCAGAACAGCATCCCTCCCTCCTCTCGGGCACTTCTTTTCCTTCCCTTCACTGCTTGTGCTGGCTTCTCTCATGCCCTTAAATTCCAAATGGCTCAGTTAAGGACCCTACTTTTCTTTTCTATGCATCCTCTTAAGGAATGAATAGGCGGCTTTAGTTAGCGCCTGTATGTGTATAATTTTATAAGCCCCCAGCCCACACTTCCACACGGTCATTTCAGGCCATTCACCTGGAGGAAGGTATACCTATTTGAATATCTCTATTGTTTGCCTGCCGTGTGGCCTGTTGGATTATTTTCTTTTTACACGCACTATTTCCCATCAAAAACATAAGCATCACAAGGTCAGGGCTACACGTAATGCCTCTTCTCCAGGACCTAGAAACACACCAGATACAACAGATGCTCAGGTAGTATGAACTGATGAGACACAGTTCTTTCTCAGGAGCTGGGAGGCTGAGTGAGCATCTTCCACTCCTCTCTTCCAAATTATCTGCCATGTCCTGTCACTTTTCCTTTCTATTATGTGCTCACATTTTATTGCTAAACAAAGAAGCCACATCACTCTCAGATTCTGACAAGCAGCTTCCTGCCCTCCGCTGCTTCTCTGATTGGAGGCCACACAAAGTCATTGAAGTCCACAGGGCCAGACTCTGATCCCAACCTCCTCCTTCCAGAGGCCTAAATAATCCCCAACAGCCTCACAAAGTAAACTGCAATTCAAAAACTGGTTCTTGGGGGAATGGGGAGGTATTGTATAATGGATAGAGAGTTTCTGTTTGGGATGATAGAAAAATTCTAGAAATGGAGAGCGGTCATGGTTGTACAACATCATGAATGCACTGAATACCACTCAGTTGCACATTTAAAAATGGTTAAAATGGTACACTTTATGTTATATATATTTTACCACAATTTTTTAAAAAAAGGTTCTTGAGTTTCCCACCCATTTCCCCCTCCCCACCCAAATGTCCTCATTTCGCCATTTCCCAGTCTGTTCTGAACCACTGAACACACACACACACCCACACACACACACTTGCATAGCATTCTAGTACTCCAGAATGTCACACTTCTACCCAACATGTTCTCATCACTTCTCTCTGCCGAGAACCTACATTTCCCCCCATCGGTGAGAACTGTCCCTAACTGTCCCTTGCTCACCCACAACATCTCCCCTCACATCATCGTTAATTAATTTGCTAATTGCTCTCCCACTTCTGTGATACTTTAGCTGGTAAGCACCTGCTTTATACATTTGCATTTTTCCTCCACTTTCCAAGGTTGTTTTTAAACACTGAAAATAGCAACCATGGGACTTCTATTCCTTTTGCAAGCTTCCTGCAGAGCTGGGTACATTATCAGACATATCATGTGCACTAAAATGTCTGTAAGTAATAAATTACTCTCTGAATTCCAAGGCTGACGGCCATCTCTCTAAAACACAGCAAATGAATCAATATGTCTAGAGACAGTAGCCTTGTTTAAAAGAAAGAAAAATACCACAACAAAAAAGATAACGTTCTACCTGCTCTCAAACAAGCAACTCCCTAGCCACATAACAAAGAATGTTATTTGATTTCTTCAAAGGCCTGTTTTAAAACCAAATCCATATGCCCACAACACAAATACCTAAAGCGTGTACAAAAGCAATCTGATTCACCCCACCATATGTATATCCTGAGTCCTCAGCTAATGGTCATAAAAGATCATCTTAAATTCATTAGCTAAAAGGCCACCTTGGTTCTGAAATAAATTACAACGATAGAAACATGATACATCAAGAGGAATTTGTGAGCCTTCAAAATTAGCCAACATCAGTTCAAGAAGATGAGCTAAGAACATGAGAGACCTTTTTGCCCCAACTATAATTAAATATAGAGTCACAGAGGAAAACGTGCTTGATCCTAGACGCCAGTGCAGCAGATTATCGTCTTTGCAATGAACACTCCGGTACAGAAAGTGGAAAAGCATGATGTTAAAATCCTCCTACCTGCTCCTGGGCCAATAAAGCCTTCTTCTTCATCACTTGCATAGCATAGATGTCCCCGGTTGCTTTCTCTCTTACCACCTGCACTTCAGCAAAGTGACCACAACCTACAAGACTTCTGACTTCGAAGTCCTTTGCCGAAGGCTGGAGCTCCTGTAACTCAGCTATGGTGTCGGAATCTGCAAAAGATGCAAGAGTTAGCCCCAGGTAAATAAAGCATGCAAATATATGCATCTTTATGAAAGAAAAAAAAAAAAGAAAATAGCATTCGGATAGCTTCCCTCACTGTCAAAGACATTCACTTTCTCATCCATCATGAATAATTATAAAATCAGTACAAAAGTGTTTTTATATGTTAAGTTAAAATTAAGGGCTCTAGAAATTCCAAAGTACAGTTTCCATGGCAGCTACAATTTGAATCCCATAGACTCAGAAAATAGGGAGAGAGGATACAAATTATGTTTTCCTTCTTCCTCTCTGAAGGCTGCAGGGCAGTGTTTGGTCAAGCATGCTTATTAGCATTTAGACTGGTTTACAGTGTGACATAGTCAACATGAGTCTAATTTAGACCAACTTGGGACCTGGTTTCCAGATCATTCCATTCTAACTACATGCGCTTAGTTTTATCCCACTAGCCCAAGGTTCATCTTCCTTGGATTGTATCCATAAAGCCTTCGTAGATCTAATATGTGGCAGTGCTTAAAGGGGCAGAGGGGTCCAGGCATGGTGGCTGACGCCTGTAATCCCAACACTTTGGGAGGCCTAGGCAAGTGGATCACTGGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTTGTGGTGCACGCCTGTAATTCCACCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGGCAGAGGACACAATGAGCTGAGATTGTGCCACAGCACTCCAATCTGGGTGACAGAGTGAAACTCTGTCTCCAAAAAAAAAAAAAGGCGTGGGGGCCAGGAGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACAAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACCAAAAACATACAAAAAATTAGCTGGGCATGGTGGTGAGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGCGTGGTGGGCAGAAGGGCTTAGCACTCAGAGAACTAAATGGGGTTCTGACATCTGCTCTGCAGGGCTGACATACTACATGTCCAAATGGATTTGCAACTATAGTTTTCTTACCATACAGTCTTATTATTTTTCCAAGTCTAATCTTTCAGTCAGAGATCCTCAACGTATGAAGTATGGATTAAATGGACAGTAGATTTGGAATCTAACATGTTTATTAACACTCTAGATACACTGATCTGAGACATCGCTAAATGTACGATGACTCTAATGACCTGCAGGAATGAAGGGGAGCAGCAGTGGCTGACCCAAAAATTTAATCCTGCACGTTACAAGGGAACAGCATCATACACAGGCATTACACACCAAGGGCAATGCAATGCTTATAATCAAAATTATCCTGGAAAATCCGGCAGAAAGATGCCACACTGAAGACCAAGAGACTGTCTTAAAATCCCAAACACACACTGGAATCTTCTGGGAACTGGAAGGGATGGCCATTTCAATGGCTGGGCAGCAGATAAGGTTAGGAGCTACATTCCAGAGTCATACTCAGCCCTGCAAGTGGCTCACACAATGAGACAGACTCGGTCCATCAAAGGGAAAGCCATTTCATACCACAGTCAGTGAGTGGCATTTTAATGAATTGGCCAATGTCATTTTTTTCATTTTCTTAGTTTTTTTTTTAAGAGACACAAATGGCTGGGCGCAGTAGCTCACGCCTGTAATCCCAGCATTTTGGGAGGGCGAGGCGGGTGGATCACCTGAGGTCAG
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Task1_train_18830
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A mutation on Chromosome 12 affecting CIT (citron rho-interacting serine/threonine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Microcephaly 17, primary, autosomal recessive
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CCTTCCCTTCACTGCTTGTGCTGGCTTCTCTCATGCCCTTAAATTCCAAATGGCTCAGTTAAGGACCCTACTTTTCTTTTCTATGCATCCTCTTAAGGAATGAATAGGCGGCTTTAGTTAGCGCCTGTATGTGTATAATTTTATAAGCCCCCAGCCCACACTTCCACACGGTCATTTCAGGCCATTCACCTGGAGGAAGGTATACCTATTTGAATATCTCTATTGTTTGCCTGCCGTGTGGCCTGTTGGATTATTTTCTTTTTACACGCACTATTTCCCATCAAAAACATAAGCATCACAAGGTCAGGGCTACACGTAATGCCTCTTCTCCAGGACCTAGAAACACACCAGATACAACAGATGCTCAGGTAGTATGAACTGATGAGACACAGTTCTTTCTCAGGAGCTGGGAGGCTGAGTGAGCATCTTCCACTCCTCTCTTCCAAATTATCTGCCATGTCCTGTCACTTTTCCTTTCTATTATGTGCTCACATTTTATTGCTAAACAAAGAAGCCACATCACTCTCAGATTCTGACAAGCAGCTTCCTGCCCTCCGCTGCTTCTCTGATTGGAGGCCACACAAAGTCATTGAAGTCCACAGGGCCAGACTCTGATCCCAACCTCCTCCTTCCAGAGGCCTAAATAATCCCCAACAGCCTCACAAAGTAAACTGCAATTCAAAAACTGGTTCTTGGGGGAATGGGGAGGTATTGTATAATGGATAGAGAGTTTCTGTTTGGGATGATAGAAAAATTCTAGAAATGGAGAGCGGTCATGGTTGTACAACATCATGAATGCACTGAATACCACTCAGTTGCACATTTAAAAATGGTTAAAATGGTACACTTTATGTTATATATATTTTACCACAATTTTTTAAAAAAAGGTTCTTGAGTTTCCCACCCATTTCCCCCTCCCCACCCAAATGTCCTCATTTCGCCATTTCCCAGTCTGTTCTGAACCACTGAACACACACACACACCCACACACACACACTTGCATAGCATTCTAGTACTCCAGAATGTCACACTTCTACCCAACATGTTCTCATCACTTCTCTCTGCCGAGAACCTACATTTCCCCCCATCGGTGAGAACTGTCCCTAACTGTCCCTTGCTCACCCACAACATCTCCCCTCACATCATCGTTAATTAATTTGCTAATTGCTCTCCCACTTCTGTGATACTTTAGCTGGTAAGCACCTGCTTTATACATTTGCATTTTTCCTCCACTTTCCAAGGTTGTTTTTAAACACTGAAAATAGCAACCATGGGACTTCTATTCCTTTTGCAAGCTTCCTGCAGAGCTGGGTACATTATCAGACATATCATGTGCACTAAAATGTCTGTAAGTAATAAATTACTCTCTGAATTCCAAGGCTGACGGCCATCTCTCTAAAACACAGCAAATGAATCAATATGTCTAGAGACAGTAGCCTTGTTTAAAAGAAAGAAAAATACCACAACAAAAAAGATAACGTTCTACCTGCTCTCAAACAAGCAACTCCCTAGCCACATAACAAAGAATGTTATTTGATTTCTTCAAAGGCCTGTTTTAAAACCAAATCCATATGCCCACAACACAAATACCTAAAGCGTGTACAAAAGCAATCTGATTCACCCCACCATATGTATATCCTGAGTCCTCAGCTAATGGTCATAAAAGATCATCTTAAATTCATTAGCTAAAAGGCCACCTTGGTTCTGAAATAAATTACAACGATAGAAACATGATACATCAAGAGGAATTTGTGAGCCTTCAAAATTAGCCAACATCAGTTCAAGAAGATGAGCTAAGAACATGAGAGACCTTTTTGCCCCAACTATAATTAAATATAGAGTCACAGAGGAAAACGTGCTTGATCCTAGACGCCAGTGCAGCAGATTATCGTCTTTGCAATGAACACTCCGGTACAGAAAGTGGAAAAGCATGATGTTAAAATCCTCCTACCTGCTCCTGGGCCAATAAAGCCTTCTTCTTCATCACTTTCATAGCATAGATGTCCCCGGTTGCTTTCTCTCTTACCACCTGCACTTCAGCAAAGTGACCACAACCTACAAGACTTCTGACTTCGAAGTCCTTTGCCGAAGGCTGGAGCTCCTGTAACTCAGCTATGGTGTCGGAATCTGCAAAAGATGCAAGAGTTAGCCCCAGGTAAATAAAGCATGCAAATATATGCATCTTTATGAAAGAAAAAAAAAAAAGAAAATAGCATTCGGATAGCTTCCCTCACTGTCAAAGACATTCACTTTCTCATCCATCATGAATAATTATAAAATCAGTACAAAAGTGTTTTTATATGTTAAGTTAAAATTAAGGGCTCTAGAAATTCCAAAGTACAGTTTCCATGGCAGCTACAATTTGAATCCCATAGACTCAGAAAATAGGGAGAGAGGATACAAATTATGTTTTCCTTCTTCCTCTCTGAAGGCTGCAGGGCAGTGTTTGGTCAAGCATGCTTATTAGCATTTAGACTGGTTTACAGTGTGACATAGTCAACATGAGTCTAATTTAGACCAACTTGGGACCTGGTTTCCAGATCATTCCATTCTAACTACATGCGCTTAGTTTTATCCCACTAGCCCAAGGTTCATCTTCCTTGGATTGTATCCATAAAGCCTTCGTAGATCTAATATGTGGCAGTGCTTAAAGGGGCAGAGGGGTCCAGGCATGGTGGCTGACGCCTGTAATCCCAACACTTTGGGAGGCCTAGGCAAGTGGATCACTGGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTTGTGGTGCACGCCTGTAATTCCACCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGGCAGAGGACACAATGAGCTGAGATTGTGCCACAGCACTCCAATCTGGGTGACAGAGTGAAACTCTGTCTCCAAAAAAAAAAAAAGGCGTGGGGGCCAGGAGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACAAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACCAAAAACATACAAAAAATTAGCTGGGCATGGTGGTGAGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGCGTGGTGGGCAGAAGGGCTTAGCACTCAGAGAACTAAATGGGGTTCTGACATCTGCTCTGCAGGGCTGACATACTACATGTCCAAATGGATTTGCAACTATAGTTTTCTTACCATACAGTCTTATTATTTTTCCAAGTCTAATCTTTCAGTCAGAGATCCTCAACGTATGAAGTATGGATTAAATGGACAGTAGATTTGGAATCTAACATGTTTATTAACACTCTAGATACACTGATCTGAGACATCGCTAAATGTACGATGACTCTAATGACCTGCAGGAATGAAGGGGAGCAGCAGTGGCTGACCCAAAAATTTAATCCTGCACGTTACAAGGGAACAGCATCATACACAGGCATTACACACCAAGGGCAATGCAATGCTTATAATCAAAATTATCCTGGAAAATCCGGCAGAAAGATGCCACACTGAAGACCAAGAGACTGTCTTAAAATCCCAAACACACACTGGAATCTTCTGGGAACTGGAAGGGATGGCCATTTCAATGGCTGGGCAGCAGATAAGGTTAGGAGCTACATTCCAGAGTCATACTCAGCCCTGCAAGTGGCTCACACAATGAGACAGACTCGGTCCATCAAAGGGAAAGCCATTTCATACCACAGTCAGTGAGTGGCATTTTAATGAATTGGCCAATGTCATTTTTTTCATTTTCTTAGTTTTTTTTTTAAGAGACACAAATGGCTGGGCGCAGTAGCTCACGCCTGTAATCCCAGCATTTTGGGAGGGCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACAAGCCTGACCAACATGATGAAACCCCATCTCTACTAACAATACAAAAA
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CCTTCCCTTCACTGCTTGTGCTGGCTTCTCTCATGCCCTTAAATTCCAAATGGCTCAGTTAAGGACCCTACTTTTCTTTTCTATGCATCCTCTTAAGGAATGAATAGGCGGCTTTAGTTAGCGCCTGTATGTGTATAATTTTATAAGCCCCCAGCCCACACTTCCACACGGTCATTTCAGGCCATTCACCTGGAGGAAGGTATACCTATTTGAATATCTCTATTGTTTGCCTGCCGTGTGGCCTGTTGGATTATTTTCTTTTTACACGCACTATTTCCCATCAAAAACATAAGCATCACAAGGTCAGGGCTACACGTAATGCCTCTTCTCCAGGACCTAGAAACACACCAGATACAACAGATGCTCAGGTAGTATGAACTGATGAGACACAGTTCTTTCTCAGGAGCTGGGAGGCTGAGTGAGCATCTTCCACTCCTCTCTTCCAAATTATCTGCCATGTCCTGTCACTTTTCCTTTCTATTATGTGCTCACATTTTATTGCTAAACAAAGAAGCCACATCACTCTCAGATTCTGACAAGCAGCTTCCTGCCCTCCGCTGCTTCTCTGATTGGAGGCCACACAAAGTCATTGAAGTCCACAGGGCCAGACTCTGATCCCAACCTCCTCCTTCCAGAGGCCTAAATAATCCCCAACAGCCTCACAAAGTAAACTGCAATTCAAAAACTGGTTCTTGGGGGAATGGGGAGGTATTGTATAATGGATAGAGAGTTTCTGTTTGGGATGATAGAAAAATTCTAGAAATGGAGAGCGGTCATGGTTGTACAACATCATGAATGCACTGAATACCACTCAGTTGCACATTTAAAAATGGTTAAAATGGTACACTTTATGTTATATATATTTTACCACAATTTTTTAAAAAAAGGTTCTTGAGTTTCCCACCCATTTCCCCCTCCCCACCCAAATGTCCTCATTTCGCCATTTCCCAGTCTGTTCTGAACCACTGAACACACACACACACCCACACACACACACTTGCATAGCATTCTAGTACTCCAGAATGTCACACTTCTACCCAACATGTTCTCATCACTTCTCTCTGCCGAGAACCTACATTTCCCCCCATCGGTGAGAACTGTCCCTAACTGTCCCTTGCTCACCCACAACATCTCCCCTCACATCATCGTTAATTAATTTGCTAATTGCTCTCCCACTTCTGTGATACTTTAGCTGGTAAGCACCTGCTTTATACATTTGCATTTTTCCTCCACTTTCCAAGGTTGTTTTTAAACACTGAAAATAGCAACCATGGGACTTCTATTCCTTTTGCAAGCTTCCTGCAGAGCTGGGTACATTATCAGACATATCATGTGCACTAAAATGTCTGTAAGTAATAAATTACTCTCTGAATTCCAAGGCTGACGGCCATCTCTCTAAAACACAGCAAATGAATCAATATGTCTAGAGACAGTAGCCTTGTTTAAAAGAAAGAAAAATACCACAACAAAAAAGATAACGTTCTACCTGCTCTCAAACAAGCAACTCCCTAGCCACATAACAAAGAATGTTATTTGATTTCTTCAAAGGCCTGTTTTAAAACCAAATCCATATGCCCACAACACAAATACCTAAAGCGTGTACAAAAGCAATCTGATTCACCCCACCATATGTATATCCTGAGTCCTCAGCTAATGGTCATAAAAGATCATCTTAAATTCATTAGCTAAAAGGCCACCTTGGTTCTGAAATAAATTACAACGATAGAAACATGATACATCAAGAGGAATTTGTGAGCCTTCAAAATTAGCCAACATCAGTTCAAGAAGATGAGCTAAGAACATGAGAGACCTTTTTGCCCCAACTATAATTAAATATAGAGTCACAGAGGAAAACGTGCTTGATCCTAGACGCCAGTGCAGCAGATTATCGTCTTTGCAATGAACACTCCGGTACAGAAAGTGGAAAAGCATGATGTTAAAATCCTCCTACCTGCTCCTGGGCCAATAAAGCCTTCTTCTTCATCACTTTCATAGCATAGATGTCCCCGGTTGCTTTCTCTCTTACCACCTGCACTTCAGCAAAGTGAACACAACCTACAAGACTTCTGACTTCGAAGTCCTTTGCCGAAGGCTGGAGCTCCTGTAACTCAGCTATGGTGTCGGAATCTGCAAAAGATGCAAGAGTTAGCCCCAGGTAAATAAAGCATGCAAATATATGCATCTTTATGAAAGAAAAAAAAAAAAGAAAATAGCATTCGGATAGCTTCCCTCACTGTCAAAGACATTCACTTTCTCATCCATCATGAATAATTATAAAATCAGTACAAAAGTGTTTTTATATGTTAAGTTAAAATTAAGGGCTCTAGAAATTCCAAAGTACAGTTTCCATGGCAGCTACAATTTGAATCCCATAGACTCAGAAAATAGGGAGAGAGGATACAAATTATGTTTTCCTTCTTCCTCTCTGAAGGCTGCAGGGCAGTGTTTGGTCAAGCATGCTTATTAGCATTTAGACTGGTTTACAGTGTGACATAGTCAACATGAGTCTAATTTAGACCAACTTGGGACCTGGTTTCCAGATCATTCCATTCTAACTACATGCGCTTAGTTTTATCCCACTAGCCCAAGGTTCATCTTCCTTGGATTGTATCCATAAAGCCTTCGTAGATCTAATATGTGGCAGTGCTTAAAGGGGCAGAGGGGTCCAGGCATGGTGGCTGACGCCTGTAATCCCAACACTTTGGGAGGCCTAGGCAAGTGGATCACTGGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTTGTGGTGCACGCCTGTAATTCCACCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGGCAGAGGACACAATGAGCTGAGATTGTGCCACAGCACTCCAATCTGGGTGACAGAGTGAAACTCTGTCTCCAAAAAAAAAAAAAGGCGTGGGGGCCAGGAGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACAAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACCAAAAACATACAAAAAATTAGCTGGGCATGGTGGTGAGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGCGTGGTGGGCAGAAGGGCTTAGCACTCAGAGAACTAAATGGGGTTCTGACATCTGCTCTGCAGGGCTGACATACTACATGTCCAAATGGATTTGCAACTATAGTTTTCTTACCATACAGTCTTATTATTTTTCCAAGTCTAATCTTTCAGTCAGAGATCCTCAACGTATGAAGTATGGATTAAATGGACAGTAGATTTGGAATCTAACATGTTTATTAACACTCTAGATACACTGATCTGAGACATCGCTAAATGTACGATGACTCTAATGACCTGCAGGAATGAAGGGGAGCAGCAGTGGCTGACCCAAAAATTTAATCCTGCACGTTACAAGGGAACAGCATCATACACAGGCATTACACACCAAGGGCAATGCAATGCTTATAATCAAAATTATCCTGGAAAATCCGGCAGAAAGATGCCACACTGAAGACCAAGAGACTGTCTTAAAATCCCAAACACACACTGGAATCTTCTGGGAACTGGAAGGGATGGCCATTTCAATGGCTGGGCAGCAGATAAGGTTAGGAGCTACATTCCAGAGTCATACTCAGCCCTGCAAGTGGCTCACACAATGAGACAGACTCGGTCCATCAAAGGGAAAGCCATTTCATACCACAGTCAGTGAGTGGCATTTTAATGAATTGGCCAATGTCATTTTTTTCATTTTCTTAGTTTTTTTTTTAAGAGACACAAATGGCTGGGCGCAGTAGCTCACGCCTGTAATCCCAGCATTTTGGGAGGGCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACAAGCCTGACCAACATGATGAAACCCCATCTCTACTAACAATACAAAAA
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Task1_train_18831
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Here is a variant affecting GATC, LOC112163529 (glutamyl-tRNA amidotransferase subunit C| BRD4-independent group 4 enhancer GRCh37_chr12:120883528-120884727) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Cardiomyopathy, mitochondrial
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TCTCTCCTAAGTTCCTCATCAAATCTGATGGCTATGTTCACAGAGTTAGTTGACAAAAATCCAGAGTCCTCAATTTCTGGACTTGCGAAATCCTTCAAGGTGACTGTCAAGGTCAAGAAGAATTTTCAGGCTTTTCTTTGCCATGGCCCATGAACTCCAGTCCTTCAATAGGAATCTCTTTCTCCTTTATTGCTTTCTGGTAGGAGGAGAAAACACATTATAAAGACCTACATGAAGCTTAAGTTGCAAGCTTTGTAAATAAAATATGACAGTACAAAAGTAAAATCAAGCTGATTATAAAGACTTATAACCATGATTCAAACCACATACTTTTTAAAAAACAAGTACCGGTCAGGTGTGGTGGCTCACGCCTATAATCGCAGCATTTTGGGAGACCAAGGCAGGTGGATCACTTGAGGCCAGAAGTTAGAGACCAACCTGGCCAACATGGCGAGACCCTGTTTATACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAAGCCCAGCTACTCGGGTGGCTGAGGCATGAGAATAGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGGCTGGGAGACAGAGTGAGACTCTGCCTCAAAAATAAATAAAAACCAGAAGTACCATAATGAATAAATCAAGTGTAAGACCTGAGGGAGACTGGAAAAGGAGTTGTGAGGGAACCGTTAAAATTAAGTGAAATTTGAAAAATAATCATCACTTTGTGTTAGTGAAAGACTTAGGTTCAAATCTGGGTTCCAGGACTTACTGGCTATGTGACTAACTGTAAATGGGATGAAGACAGCAACTACCTCGGGGAATTGCTGTGAGGATGTGTTGGGTTAACTTATTGGAAGTGCTTTGCCCGGTGCTGTTCTTAACAATTCAAAGCAGTTCCACATCCATTGGGCCAGAATAAACATTTCCTGGCTGCAGTTGCGGGGACTGGTCAAGAGAGAGAAACAGGCTAACGAAGGGTTTATAACAACAAAAAAATGTGACCCTCCAGTCTGAATTCTGAAGTATAATCCCGCCCAGACCCCAGCAGTAATAGTGGAAAAGTGCACCACCTGCGAAAGAACCAAGGAAACCTGATGCTAGTGAACTCGGATTAATCACTTCCTATTTCTGGGTGTTAGTTTTTTATGTATAAAATATGAGTAACTATGCCCACCTTGCGAGTTTAGGGTGAACACCAAATGAACCAAAGGATGTGACTGTGCTTCTTGAAAAGCACTGCCCCAATATTTGTCATTCGGAGAGACACCCAAGTGGCCTCGGTGGTGATGGTAGGGGAGCGAGCTCCTGCCACTGGCCTCACTGCGACTTTTCTCCACCCTTCCAGTCCAGTCCCAATCCCCGTAAAATACGATGAGTGTGGTGGGACACAGCGCCGAGAATGCAGGGCCTGGGAACAGAGGCGGGAGGGCTCACCTGAACACACTGCTGGTAGCGCTTGAAGAGGTCGGTGCACGGGTCCCCGGAGCTGTCCCCCTTGAGAAATTTCTCGGCGAACCAGCGATTGAAGCACTGGTCGTACTCGCGCTTCATGTCCGTGCATGCCTCCCCCACACTGTTCATGGCGACAGTGGTGGCGGCGGCGACGACGGCGCACTCTGATGTCATCACTCTCAGGCGCGTCGCTCGGCGTTACGCGCGGGCGCACTGCGGGGGCCAAGGAAGGAAGAAATGTGGTCGCGGTTGGTGTGGCTGGGCCTTCGGGCCCCTCTGGGCGGGCGCCAGGGCTTCACCTCCAAGGCGGATCCTCAGGTAAAGGCCAGGGCCATCTAGGCGGGTGGCGGAGCAAGCCGGGAGGCACTTCGGAGCGCCGGTGACCCACACTCCCCGCCTCATCCCTCCTCCAGGGCAGTGGCCGGATCACGGCTGCGGTGATCGAGCACCTGGAGCGTCTAGCGCTTGTGGACTTCGGCAGCCGCGAGGCAGTGGCGCGACTGGAGAAAGCTATCGCCTTCGCCGACCGGCTACGCGCCGTGGACACAGACGGGGTGGAGCCCATGGAATCGGTCCTGGAGGACAGGTAAACTCGCGGCTGCAGCCCCGAAGCCTTGACCGTGGCCCGTTCGCAGCCGTTTAATGTGACGATTAGCGAACAGTTTTCCAGGGGGTTAAAGAGTGTTAGCAAGATTCAGGAACTTGCCCACAGTCACCTCGCGAGTCAGTGGCTTCACTCTTCCCCTTGTTCATTACTGATGCTCTCGCTAGTGTAAGTGGAAACAAAACCCGAACTGCTAATCACTGCCTTTGTTTTTTTTTTTGTTTGTTTGTTTTGTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCTAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTCCCGTGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGACTGCCACCAGGCCCGGCTTATTTTTTTTGTATTTTTAGTAGAGACGTGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAATCATCGCCTTTAAGGCCCTACTCCATAGAGTCCCTACCTACTCACTCCAACGTACTCTTCTCAGTACTCTCCTTGGCTACCTTGACTGCTTCTCCAGCAAGACAAGTTCTTTTCCTCTCTAGATCTCTGCACTGGCCCTTCGTTTTTTTCCTTCCTCTCAGTATTTGCATGGCTGCCTCCCTCTTGGCACAGGTCTCAGCTTATCTTCTCAGAAAGGGCTCTCCTAACCACTCCAAATCCCTTCTCCCCTTCTAGTTAGTAACTCATCCTATTGGGTTTTTTCCCTAACATTTTAATGGACTTTTGTTCATTTGTTATATCTCTTTTATTAAAATGTGAGCTCATTATGTAGTTACTGTTTTATTCCTGCCTTGAATTTTTATTTTATTTGTTTTTGAGATGGAGTCTCACTCTATCACCCAGGTTAGAGTGCAGTGGCATGATCTCAGCTCATTGTAATGTCCACCTCCCAGACTCAAGAGAGCCTCCCATCTCAGCCTCCCAAGTACAGGACCACAGGCGCGTGCCACTTGGCCTGGCTAATTTTTTGTATTTTTGATAGAGACGGGATTTTGCCATGTTCCCCAGGCTTGTCTGGACTCCTGAGCAAAGGTGATCCACCCATCTCAGCCTCCTAAAGTACTGGGATTACAGGCATGAGCCACAGCACCTGGCCGTGTTTGATTCTTTCAAATGTCTTCTCTACTTTGCAATTTTCTTTTTCCTTTGGGACGGGGTCTCACTATGTTGCCCAGGCTGGTCGCAAACTTCTAGACTCAAGAGATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGTGTGCACCACCACACCTGGCTAATACTTAAAATTTTTGTAGAAACGGGGTCTTGCCATGTTGCCCCATATGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCCACTTCCTCAAGAAAGTTTTTTTTTTTTTTTGAGGTGGAGTCCTGCCCCATCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCCTCCAGGTTCAAGTGATTTTTGTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCCGCCACCACACTCAGCTAGTTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACCCCTGGCCTCAAGTGATCCGCCCATCTTCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGTCACTGCACTGGCCAAAAAAGTCCATTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTCCACCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTTCCGGTTTCAAGTGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCA
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TCTCTCCTAAGTTCCTCATCAAATCTGATGGCTATGTTCACAGAGTTAGTTGACAAAAATCCAGAGTCCTCAATTTCTGGACTTGCGAAATCCTTCAAGGTGACTGTCAAGGTCAAGAAGAATTTTCAGGCTTTTCTTTGCCATGGCCCATGAACTCCAGTCCTTCAATAGGAATCTCTTTCTCCTTTATTGCTTTCTGGTAGGAGGAGAAAACACATTATAAAGACCTACATGAAGCTTAAGTTGCAAGCTTTGTAAATAAAATATGACAGTACAAAAGTAAAATCAAGCTGATTATAAAGACTTATAACCATGATTCAAACCACATACTTTTTAAAAAACAAGTACCGGTCAGGTGTGGTGGCTCACGCCTATAATCGCAGCATTTTGGGAGACCAAGGCAGGTGGATCACTTGAGGCCAGAAGTTAGAGACCAACCTGGCCAACATGGCGAGACCCTGTTTATACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAAGCCCAGCTACTCGGGTGGCTGAGGCATGAGAATAGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGGCTGGGAGACAGAGTGAGACTCTGCCTCAAAAATAAATAAAAACCAGAAGTACCATAATGAATAAATCAAGTGTAAGACCTGAGGGAGACTGGAAAAGGAGTTGTGAGGGAACCGTTAAAATTAAGTGAAATTTGAAAAATAATCATCACTTTGTGTTAGTGAAAGACTTAGGTTCAAATCTGGGTTCCAGGACTTACTGGCTATGTGACTAACTGTAAATGGGATGAAGACAGCAACTACCTCGGGGAATTGCTGTGAGGATGTGTTGGGTTAACTTATTGGAAGTGCTTTGCCCGGTGCTGTTCTTAACAATTCAAAGCAGTTCCACATCCATTGGGCCAGAATAAACATTTCCTGGCTGCAGTTGCGGGGACTGGTCAAGAGAGAGAAACAGGCTAACGAAGGGTTTATAACAACAAAAAAATGTGACCCTCCAGTCTGAATTCTGAAGTATAATCCCGCCCAGACCCCAGCAGTAATAGTGGAAAAGTGCACCACCTGCGAAAGAACCAAGGAAACCTGATGCTAGTGAACTCGGATTAATCACTTCCTATTTCTGGGTGTTAGTTTTTTATGTATAAAATATGAGTAACTATGCCCACCTTGCGAGTTTAGGGTGAACACCAAATGAACCAAAGGATGTGACTGTGCTTCTTGAAAAGCACTGCCCCAATATTTGTCATTCGGAGAGACACCCAAGTGGCCTCGGTGGTGATGGTAGGGGAGCGAGCTCCTGCCACTGGCCTCACTGCGACTTTTCTCCACCCTTCCAGTCCAGTCCCAATCCCCGTAAAATACGATGAGTGTGGTGGGACACAGCGCCGAGAATGCAGGGCCTGGGAACAGAGGCGGGAGGGCTCACCTGAACACACTGCTGGTAGCGCTTGAAGAGGTCGGTGCACGGGTCCCCGGAGCTGTCCCCCTTGAGAAATTTCTCGGCGAACCAGCGATTGAAGCACTGGTCGTACTCGCGCTTCATGTCCGTGCATGCCTCCCCCACACTGTTCATGGCGACAGTGGTGGCGGCGGCGACGACGGCGCACTCTGATGTCATCACTCTCAGGCGCGTCGCTCGGCGTTACGCGCGGGCGCACTGCGGGGGCCAAGGAAGGAAGAAATGTGGTCGCGGTTGGTGTGGCTGGGCCTTCGGGCCCCTCTGGGCGGGCGCCAGGGCTTCACCTCCAAGGCGGATCCTCAGGTAAAGGCCAGGGCCATCTAGGCGGGTGGCGGAGCAAGCCGGGAGGCACTTCGGAGCGCCGGTGACCCACACTCCCCGCCTCATCCCTCCTCCAGGGCAGTGGCCGGATCACGGCTGCGGTGATCGAGCACCTGGAGCGTCTAGCGCTTGTGGACTTCGGCAGCCGCGAGGCAGTGGCGCGACTGGAGAAAGCTATCGCCTTCGCCGACCGGCTACGCGCCGTGGACACAGACGGGGTGGAGCCCAGGGAATCGGTCCTGGAGGACAGGTAAACTCGCGGCTGCAGCCCCGAAGCCTTGACCGTGGCCCGTTCGCAGCCGTTTAATGTGACGATTAGCGAACAGTTTTCCAGGGGGTTAAAGAGTGTTAGCAAGATTCAGGAACTTGCCCACAGTCACCTCGCGAGTCAGTGGCTTCACTCTTCCCCTTGTTCATTACTGATGCTCTCGCTAGTGTAAGTGGAAACAAAACCCGAACTGCTAATCACTGCCTTTGTTTTTTTTTTTGTTTGTTTGTTTTGTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCTAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTCCCGTGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGACTGCCACCAGGCCCGGCTTATTTTTTTTGTATTTTTAGTAGAGACGTGGTTTCACCATCTTGGCCAGGTTGGTCTTGAACTCCTGACCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAATCATCGCCTTTAAGGCCCTACTCCATAGAGTCCCTACCTACTCACTCCAACGTACTCTTCTCAGTACTCTCCTTGGCTACCTTGACTGCTTCTCCAGCAAGACAAGTTCTTTTCCTCTCTAGATCTCTGCACTGGCCCTTCGTTTTTTTCCTTCCTCTCAGTATTTGCATGGCTGCCTCCCTCTTGGCACAGGTCTCAGCTTATCTTCTCAGAAAGGGCTCTCCTAACCACTCCAAATCCCTTCTCCCCTTCTAGTTAGTAACTCATCCTATTGGGTTTTTTCCCTAACATTTTAATGGACTTTTGTTCATTTGTTATATCTCTTTTATTAAAATGTGAGCTCATTATGTAGTTACTGTTTTATTCCTGCCTTGAATTTTTATTTTATTTGTTTTTGAGATGGAGTCTCACTCTATCACCCAGGTTAGAGTGCAGTGGCATGATCTCAGCTCATTGTAATGTCCACCTCCCAGACTCAAGAGAGCCTCCCATCTCAGCCTCCCAAGTACAGGACCACAGGCGCGTGCCACTTGGCCTGGCTAATTTTTTGTATTTTTGATAGAGACGGGATTTTGCCATGTTCCCCAGGCTTGTCTGGACTCCTGAGCAAAGGTGATCCACCCATCTCAGCCTCCTAAAGTACTGGGATTACAGGCATGAGCCACAGCACCTGGCCGTGTTTGATTCTTTCAAATGTCTTCTCTACTTTGCAATTTTCTTTTTCCTTTGGGACGGGGTCTCACTATGTTGCCCAGGCTGGTCGCAAACTTCTAGACTCAAGAGATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGTGTGCACCACCACACCTGGCTAATACTTAAAATTTTTGTAGAAACGGGGTCTTGCCATGTTGCCCCATATGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCCACTTCCTCAAGAAAGTTTTTTTTTTTTTTTGAGGTGGAGTCCTGCCCCATCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCCTCCAGGTTCAAGTGATTTTTGTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCCGCCACCACACTCAGCTAGTTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACCCCTGGCCTCAAGTGATCCGCCCATCTTCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGTCACTGCACTGGCCAAAAAAGTCCATTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTCCACCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTTCCGGTTTCAAGTGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCA
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Task1_train_18832
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The gene ACADS (acyl-CoA dehydrogenase short chain) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Deficiency of butyryl-CoA dehydrogenase
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GAACAGGCCCTGAGGTGCAGCCCGCAGGTGGGCAGGATGCGCCTGGGCCTGGGGCCTCCGACCGCTCCCCGCTGTCCTCCTAGTCTCTCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTCACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAGGTACCTGCCCTGTCCCCTCACCTGTCCTTAGGGTGACAGGCCCAGAGGGGAGGAGAGGAAGGTGCTAGGCCAACTGCCCACTGCTTCGGAGGCCAGAGGGGAGGCTCCCCGTGTGGTTGGTAGGGTGAGCGCTCTTGCCACCGCGGCGCTGGGAGGAAGATTGCCTTCGGGGTCCCCTGGTTTAAGACGCCAGCTCCTGCACACCCCCCTCGCCCTCTGGTCCCATCACTGAGAGCTTTGGGACCCTCATCTTTGGAGCCCGAGTCATAGGGTTTCGTGTCTGCCAGCAGGGGTGTGGAGGGAGTGAGGCTGGTGCCCTTAGGTTGTGTGGGGTGGGGCGTGCGCTGAGCCCTGGGTCTGTGTGGGCAGGGAACGGCAGTGATGCAGGAGCTGCGTCCACCACCGCCCGGGCCGAGGGCGACTCATGGGTTCTGAATGGAACCAAAGCCTGGATCACCAATGCCTGGGAGGCTTCGGCTGCCGTGGTCTTTGCCAGCACGGACAGAGCCCTGCAAAACAAGGTGGGCCCACCCAGAGAGGGGTTCAGCCGGATCCTGGGCTGCTGTCATTTCTGTTTCTAGGGCCTTCTCTCCTTGGCCCGACTGGACCTATTTTTGCTCTGGGGCAAGTGGGCTGTCCCTGTCCCTCCTCAGCTGCCACTGAAGCCTGCACCTTCCCCAGAAGCCGGCAGAGGGTGTCAAGGCCTGAGCTTCTGAGGGAGGTGGGGAGGGGACCGGGTTGGTGTTGGGTGTGCTGGTGTGAGGGTGTGGCTGAGGGGCAGCTCTGAGAAAACCACCCGCCTCTCCTTTCAGGGCATCAGTGCCTTCCTGGTCCCCATGCCAACGCCTGGGCTCACGTTGGGGAAGAAAGAAGACAAGCTGGGCATCCGGGGCTCATCCACGGCCAACCTCATCTTTGAGGACTGTCGCATCCCCAAGGACAGCATCCTGGGGGAGCCAGGGATGGGCTTCAAGATAGCCATGGTGAGCCCGGCAGTGGGGGTGGCACCTTGAGGCCAGGCCCGCGCCCCGGCTGGCGGGCCACTGACCAGGGCGGTCCCCACAGCAAACCCTGGACATGGGCCGCATCGGCATCGCCTCCCAGGCCCTGGGCATTGCCCAGACCGCCCTCGATTGTGCTGTGAACTACGCTGAGAATCGCATGGCCTTCGGGGCGCCCCTCACCAAGCTCCAGGTCATCCAGGTAATGGTGGCAGCTTTAGGAGCTGGGCCTAGAGGCTGGACAGCGGGCGGAGAGTGTGGCCTCCTGACTGCTCTCCGTCCTCCTCCCCCTCCCTTCTGTCCCCTGGAGGGGCAGCTGCTGACCTGTGGTGTGGGGTGGGGCTATTGCAGTTCAAGTTGGCAGACATGGCCCTGGCCCTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCATGCTGAAGGATAACAAGAAGCCTTTCATCAAGGTGCCCACAGGGGTCCCCGAGCCATGGCCCAGAATGTGGTGGGCCCAGGGACGGGGAGAGGTTGGGGCGGGTCTCTGCTCCTTGGCCCCGTGGGTCAGAGGTGTGGGCCTGGGGTTTACAGCCCCATGGGGAGGCTCCACAGGCCTCCCCTGCTGAGGGAGTGGGGGAGCAGGGGATGGAGGGGTCCCCTCAAGGGAAGGCTCTGACTGTACCCCCATGTTTAGGAGGCAGCCATGGCCAAGCTGGCCGCCTCGGAGGCCGCGACCGCCATCAGCCACCAGGTGAGTGTCCACAGTGAGCTCTGAGGGGGCCAGCTGCCCCTTCTCCAGCTTTCCCCACGCCGGGGTCTTCTCCCTCCTGAGCCACTGTTCTCATCTCAGGCCATCCAGATCCTGGGCGGCATGGGCTACGTGACAGAGATGCCGGCAGAGCGGCACTACCGCGACGCCCGCATCACTGAGATCTACGAGGGCACCAGCGAAATCCAGCGGCTGGTGATCGCCGGGCATCTGCTCAGGAGCTACCGGAGCTGAGCCCGCGGCGGACTGCCCCAGGACTGCGGGAAGGCGCGGGAGCCAGGGGCCTCCACCCCAACCCCGGCTCAGAGACTGGGCGGCCCGGCGGGGGCTCCCTGGGGACCCCAGATGGGCTCAGTGCTGCCACCCAGATCAGATCACATGGGAATGAGGCCCTCCGACCATTGGCAGCTCCGCCTCTGGGCCTTTCCGCCTCCTCACCACTGTGCCTCAAGTTCCTCATCTAAGTGGCCCTGGCCTCCTGGGGGCGGGGTTGTGGGGGGGCTGAGCGACACTCAGGGACACCTCAGTTGTCCTCCCGCGGGCCCTGGTGCCCTGGCATGAAGGCCCAGTGCGACAGGCCCTTGGTGGGGTCTGTCTTTTCCTTGAGGTCAGAGGTCAGGAGCAGGGCTGGGGTCAGGATGACGAGGCCTGGGGTCCTGGTGTTGGGCAGGTGGTGGGGCTGGGCCATGGAGCTGGCCCAGAGGCCCCTCAGCCCTTTGTAAAGTCTGATGAAGGCAGGGGTGGTGATTCATGCTGTGTGACTGACTGTGGGTAATAAACACACCTGTCCCCCAGTCTGTGTCCTCGCCCTCTCCTGGGTGCTCCGGGGAGGGATGGTGGTCTCTGCACAGAGTCCTGCTCTCTGACAGTCTCACCCTGTGAGTGTTGGGGGTCTTGGGGAGGGGCCTGGCCACCTGGGAGGTTCCTGAGTTCCGGCAGAGGCCAGATTGGCCAAGGAGGCAGTTCAGGAATAGGAACTGGGTCCTGCAGGCCTCAGGGAGTGGCCCCTGGGGAGGGAGGGTGGGCCAGGCAGGGCCAGTGGGCTAGAAGGGGTTCTCTACGCAGGACCAGCCTCCAGGCAGGAGGAAGGAAGGCCCCAGATTGCCAGAGTCGGGGAGCAAAGCTGTGGAGGCCTCGAGCCCCAGGTGGGAGAACACAGAACCTCGAGAAGCAGCCATTGTGCTCACTAGCGCGCTCGGGGGCGGCCCTGGCCAGCCAGTGCGGGGGCTTGCCCTGGTCCTGGTGCCTGCAGGGCTTTCTCTGGGCAAAGGTGCCCCTGAAGCCAAGGTCCAAGCTCTTAACCCTCTGGGCCAGTGTCGATCTCAGCAGCTGGAAGAGAAAACAGTGAGCAAAGAAAGATTTCAAAGGAGGTGGGGACAGCCCTCCGCCGGGCAGGCAGGGCAGAGAGTCAAACTGGCATTGCTGGGAGGTCTCTGGAGGGAAGCGGGAGGGAGACGGTGACTTTAGGAGCTGTCATCAAAGGGGCGCCCAGGGACCCTGAGCCCCTGTTGGGGATGGATTTTTTTTTAGAGACAGAATCTCACTGTCACCCAGGCAGGAGTGCAGTGGCACAACCACAGCTTATCAGAACCTCAACCTCCCAGGCTCAAGTGATCCTCCCGTCTCGGCCTCCCAGGTAACTGGGACTACAGGTGCACACTACCATGGCCAGCTAATTTTTAAATTTTTTGTAGAGATGGGGTCTTGCTTTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCTCCCAAGTGGGATTTCTGTGCCAGGTGCTGGTGCCCCGCAGCCGAAGGATCCAGCCTGGAGCTGCTGCTCTGCAGGGCAGCTCTGCCCTTGACCCCGCCCTGACCTGGGCCTGGTCCAGGGCCCCGGGGAATAGGAGTGCGCTTCTTTGAGCGAATTTAGGTCCTGATTTACCCCACAGGCAGGGTGTGCGCAGAGCCCACGGGTAGTGTGTTCCCTGCTAACGAGGCACACCTGTGGCTTCTGGGAAGCGCGTCCTCCTGGGCTCCCGAGGTCAGTGGCGTCCTGCGCAGTCTGCAGAAGTTTGGGTCCCTGGGCTTTCCTCCTGGCTCCAGGTAAGTGCCGCCTGCAGAAGTTTGGGTCCCTGGGCTTTCCTCCTGGCTCCAGGTAA
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GAACAGGCCCTGAGGTGCAGCCCGCAGGTGGGCAGGATGCGCCTGGGCCTGGGGCCTCCGACCGCTCCCCGCTGTCCTCCTAGTCTCTCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTCACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAGGTACCTGCCCTGTCCCCTCACCTGTCCTTAGGGTGACAGGCCCAGAGGGGAGGAGAGGAAGGTGCTAGGCCAACTGCCCACTGCTTCGGAGGCCAGAGGGGAGGCTCCCCGTGTGGTTGGTAGGGTGAGCGCTCTTGCCACCGCGGCGCTGGGAGGAAGATTGCCTTCGGGGTCCCCTGGTTTAAGACGCCAGCTCCTGCACACCCCCCTCGCCCTCTGGTCCCATCACTGAGAGCTTTGGGACCCTCATCTTTGGAGCCCGAGTCATAGGGTTTCGTGTCTGCCAGCAGGGGTGTGGAGGGAGTGAGGCTGGTGCCCTTAGGTTGTGTGGGGTGGGGCGTGCGCTGAGCCCTGGGTCTGTGTGGGCAGGGAACGGCAGTGATGCAGGAGCTGCGTCCACCACCGCCCGGGCCGAGGGCGACTCATGGGTTCTGAATGGAACCAAAGCCTGGATCACCAATGCCTGGGAGGCTTCGGCTGCCGTGGTCTTTGCCAGCACGGACAGAGCCCTGCAAAACAAGGTGGGCCCACCCAGAGAGGGGTTCAGCCGGATCCTGGGCTGCTGTCATTTCTGTTTCTAGGGCCTTCTCTCCTTGGCCCGACTGGACCTATTTTTGCTCTGGGGCAAGTGGGCTGTCCCTGTCCCTCCTCAGCTGCCACTGAAGCCTGCACCTTCCCCAGAAGCCGGCAGAGGGTGTCAAGGCCTGAGCTTCTGAGGGAGGTGGGGAGGGGACCGGGTTGGTGTTGGGTGTGCTGGTGTGAGGGTGTGGCTGAGGGGCAGCTCTGAGAAAACCACCCGCCTCTCCTTTCAGGGCATCAGTGCCTTCCTGGTCCCCATGCCAACGCCTGGGCTCACGTTGGGGAAGAAAGAAGACAAGCTGGGCATCCGGGGCTCATCCACGGCCAACCTCATCTTTGAGGACTGTCGCATCCCCAAGGACAGCATCCTGGGGGAGCCAGGGATGGGCTTCAAGATAGCCATGGTGAGCCCGGCAGTGGGGGTGGCACCTTGAGGCCAGGCCCGCGCCCCGGCTGGCGGGCCACTGACCAGGGCGGTCCCCACAGCAAACCCTGGACATGGGCCGCATCGGCATCGCCTCCCAGGCCCTGGGCATTGCCCAGACCGCCCTCGATTGTGCTGTGAACTACGCTGAGAATCGCATGGCCTTCGGGGCGCCCCTCACCAAGCTCCAGGTCATCCAGGTAATGGTGGCAGCTTTAGGAGCTGGGCCTAGAGGCTGGACAGCGGGCGGAGAGTGTGGCCTCCTGACTGCTCTCCGTCCTCCTCCCCCTCCCTTCTGTCCCCTGGAGGGGCAGCTGCTGACCTGTGGTGTGGGGTGGGGCTATTGCAGTTCAAGTTGGCAGACATGGCCCTGGCCCTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCATGCTGAAGGATAACAAGAAGCCTTTCATCAAGGTGCCCACAGGGGTCCCCGAGCCATGGCCCAGAATGTGGTGGGCCCAGGGACGGGGAGAGGTTGGGGCGGGTCTCTGCTCCTTGGCCCCGTGGGTCAGAGGTGTGGGCCTGGGGTTTACAGCCCCATGGGGAGGCTCCACAGGCCTCCCCTGCTGAGGGAGTGGGGGAGCAGGGGATGGAGGGGTCCCCTCAAGGGAAGGCTCTGACTGTACCCCCATGTTTAGGAGGCAGCCATGGCCAAGCTGGCCGCCTCGGAGGCCGCGACCGCCATCAGCCACCAGGTGAGTGTCCACAGTGAGCTCTGAGGGGGCCAGCTGCCCCTTCTCCAGCTTTCCCCACGCCGGGGTCTTCTCCCTCCTGAGCCACTGTTCTCATCTCAGGCCATCCAGATCCTGGGCGGCATGGTCTACGTGACAGAGATGCCGGCAGAGCGGCACTACCGCGACGCCCGCATCACTGAGATCTACGAGGGCACCAGCGAAATCCAGCGGCTGGTGATCGCCGGGCATCTGCTCAGGAGCTACCGGAGCTGAGCCCGCGGCGGACTGCCCCAGGACTGCGGGAAGGCGCGGGAGCCAGGGGCCTCCACCCCAACCCCGGCTCAGAGACTGGGCGGCCCGGCGGGGGCTCCCTGGGGACCCCAGATGGGCTCAGTGCTGCCACCCAGATCAGATCACATGGGAATGAGGCCCTCCGACCATTGGCAGCTCCGCCTCTGGGCCTTTCCGCCTCCTCACCACTGTGCCTCAAGTTCCTCATCTAAGTGGCCCTGGCCTCCTGGGGGCGGGGTTGTGGGGGGGCTGAGCGACACTCAGGGACACCTCAGTTGTCCTCCCGCGGGCCCTGGTGCCCTGGCATGAAGGCCCAGTGCGACAGGCCCTTGGTGGGGTCTGTCTTTTCCTTGAGGTCAGAGGTCAGGAGCAGGGCTGGGGTCAGGATGACGAGGCCTGGGGTCCTGGTGTTGGGCAGGTGGTGGGGCTGGGCCATGGAGCTGGCCCAGAGGCCCCTCAGCCCTTTGTAAAGTCTGATGAAGGCAGGGGTGGTGATTCATGCTGTGTGACTGACTGTGGGTAATAAACACACCTGTCCCCCAGTCTGTGTCCTCGCCCTCTCCTGGGTGCTCCGGGGAGGGATGGTGGTCTCTGCACAGAGTCCTGCTCTCTGACAGTCTCACCCTGTGAGTGTTGGGGGTCTTGGGGAGGGGCCTGGCCACCTGGGAGGTTCCTGAGTTCCGGCAGAGGCCAGATTGGCCAAGGAGGCAGTTCAGGAATAGGAACTGGGTCCTGCAGGCCTCAGGGAGTGGCCCCTGGGGAGGGAGGGTGGGCCAGGCAGGGCCAGTGGGCTAGAAGGGGTTCTCTACGCAGGACCAGCCTCCAGGCAGGAGGAAGGAAGGCCCCAGATTGCCAGAGTCGGGGAGCAAAGCTGTGGAGGCCTCGAGCCCCAGGTGGGAGAACACAGAACCTCGAGAAGCAGCCATTGTGCTCACTAGCGCGCTCGGGGGCGGCCCTGGCCAGCCAGTGCGGGGGCTTGCCCTGGTCCTGGTGCCTGCAGGGCTTTCTCTGGGCAAAGGTGCCCCTGAAGCCAAGGTCCAAGCTCTTAACCCTCTGGGCCAGTGTCGATCTCAGCAGCTGGAAGAGAAAACAGTGAGCAAAGAAAGATTTCAAAGGAGGTGGGGACAGCCCTCCGCCGGGCAGGCAGGGCAGAGAGTCAAACTGGCATTGCTGGGAGGTCTCTGGAGGGAAGCGGGAGGGAGACGGTGACTTTAGGAGCTGTCATCAAAGGGGCGCCCAGGGACCCTGAGCCCCTGTTGGGGATGGATTTTTTTTTAGAGACAGAATCTCACTGTCACCCAGGCAGGAGTGCAGTGGCACAACCACAGCTTATCAGAACCTCAACCTCCCAGGCTCAAGTGATCCTCCCGTCTCGGCCTCCCAGGTAACTGGGACTACAGGTGCACACTACCATGGCCAGCTAATTTTTAAATTTTTTGTAGAGATGGGGTCTTGCTTTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCTCCCAAGTGGGATTTCTGTGCCAGGTGCTGGTGCCCCGCAGCCGAAGGATCCAGCCTGGAGCTGCTGCTCTGCAGGGCAGCTCTGCCCTTGACCCCGCCCTGACCTGGGCCTGGTCCAGGGCCCCGGGGAATAGGAGTGCGCTTCTTTGAGCGAATTTAGGTCCTGATTTACCCCACAGGCAGGGTGTGCGCAGAGCCCACGGGTAGTGTGTTCCCTGCTAACGAGGCACACCTGTGGCTTCTGGGAAGCGCGTCCTCCTGGGCTCCCGAGGTCAGTGGCGTCCTGCGCAGTCTGCAGAAGTTTGGGTCCCTGGGCTTTCCTCCTGGCTCCAGGTAAGTGCCGCCTGCAGAAGTTTGGGTCCCTGGGCTTTCCTCCTGGCTCCAGGTAA
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Task1_train_18833
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Given this variant in gene HNF1A (HNF1 homeobox A) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Monogenic diabetes
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CGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGA
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CGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCGTGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGA
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Task1_train_18834
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Here is a mutation in HNF1A (HNF1 homeobox A) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Monogenic diabetes
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CGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGA
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CGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCTTGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGA
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Task1_train_18835
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Chromosome 12 houses a mutation in gene HNF1A (HNF1 homeobox A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Monogenic diabetes
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GAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGAC
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GAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCACGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGAC
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Task1_train_18836
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A variant found in Chromosome 12 affects HNF1A (HNF1 homeobox A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Monogenic diabetes
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GCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGACAGAGAAGCTGGGAGAAGCAGAACGGAGGAGCCAGGGGGGCGGGGGCTCAGACCCAG
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GCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAAGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGACAGAGAAGCTGGGAGAAGCAGAACGGAGGAGCCAGGGGGGCGGGGGCTCAGACCCAG
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Task1_train_18837
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Given this context: Chromosome 12, gene HNF1A (HNF1 homeobox A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Maturity onset diabetes mellitus in young
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CACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGACAGAGAAGCTGGGAGAAGCAGAACGGAGGAGCCAGGGGGGCGGGGGCTCAGACCCAGCTGGGAGAAGGGGCACGGGAGAGAATGAGGCGCCCCAAGCTTGCAAGGAGGCTGGAGTGCTTCCCGCCTGCCCCGATTGGGTTTTCTTTAATGCTAACAGCA
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CACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGAATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCAACTCAATAAAGAATACAAAAAAATTAGCCGGGTGTAGTGGTATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACACACACACACACAACCCAAACACACACAACACACACACACAAAATCAGCTGGGTGTCGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGTACTTGGGTGGCTGAGGCGGGAGGATCACCTGAACCCAGGAAGTCAAGGCTGCAGTAAGCCATGATCGCGCCACAGCACTCCAGCCTGGGTGACAAAGTGAGAACATAGCTCAAAAAATAAAAAAATAAATTTGCACCTGAGGCAAGTGTCACACTCATCCCAACTCAGTCTCACCTTGCATGTTTTCTGCCTTGCTGGCTGTATGACCCTGGACAAGTTACTTAACCGCTCAGAGCCTCGATTTCCTCCTCTATAAAATGGGGATAATCTCTGTAACTGCTCACAGTTGGTAGCAGAATGCAATGAAGTGAATTCGCCCTCACAGAGCCAGCACTGTTCTTGGCACATGGTAATCTTAACATATTTTTTCCTACAGGGAGGCCTGGTGTCAGGCCGGGAGTGGGGTGGAAGGGTCCCAAAATGGATGGAAGGGCCCCAAAATGGCCGTGAGCATCCTCTGCCCTTGAGAAGAGCTAGCCCAGCTGTCTAGAGCTCCCTGCTGCTGCCGCTCTCGTAAGCAGCAAGCATTTTTGGCTCTCCTGTCTCAGCATGATGCCCCTACAAGGTTCTTTCGGGGGTGGGACCCAACGCTGCTCTCCTGATGGCCTCCCTGGCTCCCAGCACCTTCCATCCCAGCTGCTCAGGGCCCCTCACCTGCGCCTCCCCCACCCTCCCCTCTGCCCACTCCCATCGCAGGCCATAGCTCCCTGTCCCTCTCCGCTGCCATGAGGCCTGCACTTTGCAGGGCTGAAGTCCAAAGTTCAGTCCCTTCGCTAAGCACACGGATAAATATGAACCTTGGAGAATTTCCCCAGCTCCAATGTAAACAGAACAGGCAGGGGCCCTGATTCACGGGCCGCTGGGGCCAGGGTTGGGGGTTGGGGGTGCCCACAGGGCTTGGCTAGTGGGGTTTTGGGGGGGCAGTGGGTGCAAGGAGTTTGGTTTGTGTCTGCCGGCCGGCAGGCAAACGCAACCCACGCGGTGGGGGAGGCGGCTAGCGTGGTGGACCCGGGCCGCGTGGCCCTGTGGCAGCCGAGCCATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTGGAGGGGAGCTGGCTGAGCTGCCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGACTTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAGAAAGCCGTGGTGGAGACCCTTCTGCAGTAAGGAGCCCTGCCCCGTCCCCGCTCCCAGGAGAGCCTAGAGGGGCCCCCCTCAGCTCCTAACGAGCCCCCCTTCTGAGTTGAGTCCCCATGACCTTCAGCCTTTAGCCTAGTTGCTGGGAAGGGGGACAGGGCCCATGAGAGCCCAGGGGTCCTTGCTTGGAGGTTTGAGCCTCCAGCCCCTGAACTGCTCCTCTGCAGAGTCCCAAATCCCATGAGCCCAGGCCTTTAGCCCAGTCCTTGGGCAAGGGGGACATTTCCCAGGGGGGTCCAAGATGGGAGAAAAAGCAGGTGAGTTCACAACTCAAATGCCTGGAGAACTGGGAGGTGGTGGAAATTTTTAGCCACTCTGATCATTTATACTCTCCAGACCCTAACTCCTGCACTGAGTCCTCAGTGGGTAGGCTCCGGGGCCCAGGAAGCACTGCCAGGGAGGAGGGCCCGAAGCTGGGGTTTGGGGGCTTTCCTGGCCTCCTAGGGACTCATGCGTTTAGCCAGGGAAGCCCAGGTCTTTCTTACCTGAGGCAGACAGAGCCTCGAGGTGGGAGCTGCTCCCCTTTCCTGTATGGCCACAGGCACCCCACCTCACCAGCAGGCGCCATTAGAGGCTGCCCGTTCTACATCCCCATCCGCTGGCGGACTCCCCGTCTCCTGGAGAACTGGGTGGGTCCTGAGCTCGATGCCTCCCCTCTCCTCAGCAGAGCTGACCTAGTTACTAATTACCCATGTGCTTTATTATTTCTCTTTTGTTTTATAAATTTATAAATGGCAAAAGGCTCTGATAAGGTCTGTGATCATTAACTTGTAGGAATGGTGGCCTGGAAAGATCTGGGCCAACCCACCTCCCACCTAGTGGGGGTGGGGGATGGGGGTGTGGGGGAGAAGGAAGGATGGCCTGGGGGCTACAGGGGCCACCCCTCCCCAGCGGCTCCCTGACCTCCACCCTACAGCGCCTGCTTGAGGAGGTTCACTACTTCCTGGGCGCTGTGCTGAGGTTTCACAGGAATAATTTCCCTTCATGGTGAGGAGTCCTGGGCAGAAGCTATTGGTGACTCTGCTTCACAAATGGGGAAACTGGGGCTTAGAGCCGGGAAGGAGCTAGACTAAGTTCACCAAACTGAGGCCCCAAACCTACTCTGTTCGGTGCTCTCAATTGCTATGACCGGGGACCAGAGGCCTGCAGGGGGTGGCCAGGGAGTCAGAGAGAGACCGAGCCCCAAAGATGCTCCAAAGGGGCCCATCTCTTTTCTGTCCAAGGTCCTGATCCCAGCTGGGGTGGGGGAGGGCTGGTGGATTCCTGCTTTCCCAGAGGCCTCAGGGAGCCTCCCGAGGGCCTGGACAGGGGGCAGGGGAGCAGTCAGGGCCCCCTGACTTGGCAGGAAGAGGAGGGCAAAGGACTCCAGAGCTGCAGGGGAGGGGCAAAGAGTCAGGCATCCCAGACCCAGGGCGAAGGCAACCTGACGGGGTGGGGCTGGGCCTGACCTGCCCAGGGCCCCAGATGGGACTGGGGGCTTTGGGGTGAGGGTGGGGGCAGGGGATGCTTTCTTACCTGGCTGAGTGAGCTCTCTCGGTCAGCAGCCCCCTTTGGTGGGATGGTGGGGTTGGGGAGGCTTGATCCACAGCATTTGAAGGGGAAGCAGAGGTCAAAGTGCTTCCTAGGGACCAGCAGAGACCTGGAAGCTGAGGCAGAGAGTGTAGAGAGAGGCCATTGGGGGAGATGGACAGAGAAGCTGGGAGAAGCAGAACGGAGGAGCCAGGGGGGCGGGGGCTCAGACCCAGCTGGGAGAAGGGGCACGGGAGAGAATGAGGCGCCCCAAGCTTGCAAGGAGGCTGGAGTGCTTCCCGCCTGCCCCGATTGGGTTTTCTTTAATGCTAACAGCA
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Task1_train_18838
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Assess the clinical impact of this variant on gene HNF1A (HNF1 homeobox A), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Monogenic diabetes
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TGGCCAGGCTGGTCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTA
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TGGCCAGGCTGGTCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCTGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTA
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Task1_train_18839
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With a mutation on Chromosome 12 in gene HNF1A (HNF1 homeobox A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Monogenic diabetes
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TCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCT
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TCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGTGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCT
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Task1_train_18840
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This variant affects gene HNF1A (HNF1 homeobox A) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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CACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACAC
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CACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCGCAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACAC
|
Task1_train_18841
|
A genomic change on Chromosome 12 affects HNF1A (HNF1 homeobox A). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Monogenic diabetes
|
AAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGT
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AAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGTGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGT
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Task1_train_18842
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This sequence change occurs on Chromosome 12, altering HNF1A (HNF1 homeobox A). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Monogenic diabetes
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AAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTT
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AAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCAGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTT
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Task1_train_18843
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The gene HNF1A (HNF1 homeobox A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Monogenic diabetes
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CCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATAT
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CCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTTCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATAT
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Task1_train_18844
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This gene mutation involves HNF1A (HNF1 homeobox A) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Monogenic diabetes
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AGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCT
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AGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCTACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCT
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Task1_train_18845
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Gene HNF1A (HNF1 homeobox A) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Monogenic diabetes
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CTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCTTTTCATA
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CTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTTCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCTTTTCATA
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Task1_train_18846
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This variant lies on Chromosome 12 and affects the gene HNF1A (HNF1 homeobox A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Monogenic diabetes
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AAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCTTTTCATATTGGCACTGAGAGATTGATGGATCTCATTCTTTATAAGGGC
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AAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGTGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCTTTTCATATTGGCACTGAGAGATTGATGGATCTCATTCTTTATAAGGGC
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Task1_train_18847
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The gene HNF1A (HNF1 homeobox A) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Monogenic diabetes
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AAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCTTTTCATATTGGCACTGAGAGATTGATGGATCTCATTCTTTATAAGGGCT
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AAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCAGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCTTTTCATATTGGCACTGAGAGATTGATGGATCTCATTCTTTATAAGGGCT
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Task1_train_18848
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This variant lies on Chromosome 12 and affects the gene HNF1A (HNF1 homeobox A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Monogenic diabetes
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AGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCTTTTCATATTGGCACTGAGAGATTGATGGATCTCATTCTTTATAAGGGCTGCTGGCTGTTATTTGTTTAACTGGCCACCTACTGA
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AGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGTGGAACTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACCAGCCTCCTGTTCTGGTGCTGCAGGGAAACAGGCCTGGCCACAGCCAAGGGTGCAGATTTTCAGGAAGCATTTTTAAAAATATATATATATATATATACACATATATATATATACAGAGAGAGAGAAGCCACTGAGGCCCACAGAATTTGCATCATTTTATTCCTTGTCCAAGGTCACAGGACAAGCAGAGTCCCACCCACCTGAAAGGATTCAGTTCTAAGACAGCCTTTAGGGCAAAAAGTCACAAAGTTGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTACGTGTTTGCACCCTAATCACTGGCAGTAAATGCACTTTTTTTCTTTTCTTTTCTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTAGGTGTAAAATTGGAGAATCCATATTTCTTTCCTTGTTTTCAGATTTAATGCTTTCCTTTTTCCAGCAGGTCTCCTTCGTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCACCCATCTATCTGTCCATCCACTCTACCCTACCATCCATCCACCAGTCCATCCATCTATCCACCAATTCATCCATCCATCCACCCATTCGCCCATCCATCCATCCACCCACCCATCCATCCATCCGTCCATCCACCCATTCATCCATTCATCCATTCACCCATCCATCCATCCACATATCTTCATCTGTGTTGTGTGTCTGTGTATCCATGTTTCTAAACCTTTATCTGTTCCAGTGTCTGTATCCATAGGCCTGTGTCCACGTTTGTCATGTGTGTGCGTCTACAAGTCTCTGTCCTCATGACCATGTGTCTGTGTCCCTGTGTCCTGGCATAAATGACCATACCTCACCGTCCCTGAGTCTATGTGTAGGCCCCTGGGCTCCATAACTGCTTTCATGCACAGTCCCCACCCTCAGGGTTGACAAGGTTCCAGCACCCAGGACCGCAGCCCCACCTATGGGGAGAGACAGCCCTTGCTGAGCAGATCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACCAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCAAGCAGGGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGGGCCCAGGACTCTCCCCTAACTCATAGGTGGGGGCTGGAAGCTTCACCATCCCCATTACACAGACAGGTAGATGGAAAGGAAGTCAGTGGGATTCAACCTGCATTTATTACCTATTCTGCGCCAGGCACTCTGTGGGACGGGAGTAGACTTGGTCCTGAACATCCAAAGATGAATGAAATGGGTCCCTGCTTTCTTTTTCTTTTTTTAGATAGAGTTTTGCTCTTATTGCCCAGGCTGGAGTTCAGTGGTGCGACCTCAGCTCACTGTGACCTCCTCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAATAGCTGGGATCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTAGTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGGTCCCTGCTTTCTCAGAGCCCATGGTTAAGTGGGAAAGTGGGAGAAAAGCTCATTATGATCCAGCGAGTCATGTATTAGAATGGGACAACAGCAGCCACAACAACAACAATAATGGCCACTATTTATCATGCATTTTTGGGGTGCCTGGTCCAGTGCAGAGTATTACACAAAGCATTTCAGGGTGCTGAGCTGACTGTCGACTGGGGAGTAACCTGTTCTTCCTCAGGAAGGCAGAGGTATCAGGAAGCCTCACATTGCAAATATGACCTTTAGAATATGACCTTTAGACTAGGTCTTAAAGTGGGAGTTGAATTTTGACCCATGGAGACGCAGGGAAGGGTGTTTCAGGCAGAAGGAACAGCATCAGTAAAGGCTCAGAGGCAAGGTCTACGGTCAGGAAATCCTCCACTGCAAACTCAGGAAGCTCTGGGAGCCCTATTACTCAGGGAATGGTGGGTTTTCTTCTCCAGGCCTCATACCCCACCAAATCCCAAGGGCACTGTCACCTTCCAACCTCCATCTATGTGTGACATTTTTTGACATTTCTTTTATTAATTATCCAGGTTAATTTTTTTTTATTATTTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTAATTATCCAGGTTTTTAAAAAAGGAAATAGCCAGGCATGGTGGTGTGCCATAATCTCAGCTACTGAGGAGGCTGAGGTGGGAGGACTGTTTGAGCCCCCAGGGGTTCGGCTCCAACCTGGACAACATGGCAAGGTTCCTCCTCTAAAAAAGAAAGAAAGGAAAGATGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAAGGTAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAGAAAAAGAACGAGAGAAAGAAAGAAAGGCAATACACATTTGGTTAAAAAAAAAGAAGAAAAACAGAGTTTATAAGAAAAATTAGATGCCTTTACCCTAAAGCAGCCACTGGAATTCCCAGACTCTTGTGTATCCTTCCAGAGAGATTTTCTGCATATAGTAGCAATAGATATGTTATTTTCTTGCTCTTTTTCTGATTAATGGGAACATACTAGACACACTATTTTACATGTTGTGTTTTGTCTCTTGGCAATAAATCCTGTATATCTTTTCATATTGGCACTGAGAGATTGATGGATCTCATTCTTTATAAGGGCTGCTGGCTGTTATTTGTTTAACTGGCCACCTACTGA
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Task1_train_18849
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This is a variant in HNF1A (HNF1 homeobox A), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Monogenic diabetes
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AAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTG
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AAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGTGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTG
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Task1_train_18850
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A genetic alteration is present in HNF1A (HNF1 homeobox A) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Monogenic diabetes
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AGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGT
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AGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCAGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGT
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Task1_train_18851
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A mutation in HNF1A (HNF1 homeobox A), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Monogenic diabetes
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CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACAC
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CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACAGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACAC
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Task1_train_18852
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Here is a mutation in HNF1A (HNF1 homeobox A) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Monogenic diabetes
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CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACAC
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CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACTGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACAC
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Task1_train_18853
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The gene HNF1A (HNF1 homeobox A) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Monogenic diabetes
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CACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACA
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CACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCATTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACA
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Task1_train_18854
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Assess the clinical impact of this variant on gene HNF1A (HNF1 homeobox A), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Monogenic diabetes
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GCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATT
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GCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGACCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATT
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Task1_train_18855
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A variant was discovered in gene HNF1A (HNF1 homeobox A), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Monogenic diabetes
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GTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCAC
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GTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCAAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCAC
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Task1_train_18856
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An alteration has been detected in HNF1A (HNF1 homeobox A) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Monogenic diabetes
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GTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCAC
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GTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAATAGAGATGCAAACTGTGGCCCAAATAGCTTTCCCTGGGGGATTTTTAACTTTTAAGGAGAAATTGGAGAATTTGAGATGCAGAGTCAATATATGACTGTAGTATTAGGACTCTTTCAGTAACAGGGGACAGAACCCCAACTCAAATGGATTTAAACAGAAAAGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCCAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCAC
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Task1_train_18857
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The gene HNF1A (HNF1 homeobox A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Monogenic diabetes
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AAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGC
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AAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGTTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGC
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Task1_train_18858
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This is a variant in HNF1A (HNF1 homeobox A), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Monogenic diabetes
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CAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGAC
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CAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCATGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGAC
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Task1_train_18859
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A change on Chromosome 12 affects gene HNF1A (HNF1 homeobox A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Monogenic diabetes
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TCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCG
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TCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGTGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCG
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Task1_train_18860
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Consider a variant on Chromosome 12 in gene HNF1A (HNF1 homeobox A). Determine its clinical classification and disease relevance.
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Pathogenic; Monogenic diabetes
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CAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGA
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CAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCATGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGA
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Task1_train_18861
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This gene mutation involves HNF1A (HNF1 homeobox A) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Monogenic diabetes
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CAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGA
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CAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCTTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGA
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Task1_train_18862
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This alteration in HNF1A (HNF1 homeobox A) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Monogenic diabetes
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CTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCC
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CTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACTGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCC
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Task1_train_18863
|
Given this context: Chromosome 12, gene HNF1A (HNF1 homeobox A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Monogenic diabetes
|
TTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCT
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TTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCAGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCT
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Task1_train_18864
|
A mutation found in HNF1A (HNF1 homeobox A) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Monogenic diabetes
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GACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCA
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GACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGAGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCA
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Task1_train_18865
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Here is a mutation in HNF1A (HNF1 homeobox A) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Monogenic diabetes
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GACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCA
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GACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGTGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCA
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Task1_train_18866
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This alteration occurs within gene HNF1A (HNF1 homeobox A) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
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Pathogenic; Monogenic diabetes
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ACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAA
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ACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCACAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAA
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Task1_train_18867
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The gene HNF1A (HNF1 homeobox A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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TTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAG
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TTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAATGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAG
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Task1_train_18868
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A change on Chromosome 12 affects gene HNF1A (HNF1 homeobox A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Diabetes mellitus
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TTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAGCGGCG
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TTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGTAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAGCGGCG
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Task1_train_18869
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A variant was discovered on Chromosome 12, affecting HNF1A (HNF1 homeobox A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Monogenic diabetes
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TTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAGCGGCGGTC
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TTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTGGTTGTACCCACCTGTAATCCCAGCACATTTGGGAGGCAAAAGTGGGAGGATCACTTGAGCCTAAGAGTTCAAGACCAGCCTGGGCAACAGAAGGAGACCCCATCTCTCCAAAAAATACGAATAAATGAGCCAGGTGTGGTGCAGCAGGTGTGTAGTCCTAGCCACTTATGCCCGCTGCTGTTTCTTGGCACTGAGATGGTGAGGGCCCTGCTGCTGCTGCTGCGCCCCTGATTCAGAATCTACCTTCCTCTCTTCTCATAAAGTGCTGTCCTAGCACTTGTGTGTCCCAGTCCTTTGGTGGCCTGCTCAGGGATAAGCTGGTAGACCAGTTTCCAGTAAAGTGGTACCAGCTGATGAAGGCTGGCTGGGTCTCTTCCTCTAGCTAACATTTGCATTTTAAGCCTGATTTTCAAGTCTGGAAAGCTGAATATAATTCTGAATACACTGAGGACATATGGCTCAAATTTTTGCTCTACTGCGTGACTCTGGAAAAATATGTAAGCTCTCTGAGCCTCAGCTTCCTCATCTGTACAATGGGGATAGTAAATGTGCCAAATCAGAACAAATGCTAATGCTTACCTGCAGTCTTGTACTGAGAAGGATGGTGAGATCATATCTTGGGTTGGTAGGAAAGCATTCAGGGATTGATTAGTGATGTTTGCCTTGAACACAGGTTAAGAAAGTGATGGCATGTGTGCTGTGTGTTTGTCATCAGTAGATTAGATGATTTCTAAGTTCTAGCTGTAAGCTCCTCTGGTTCAGCGCCATGGCAATGAGAAAGAATCAAGGGCAAGGTCAGGGGAATGGACGTGGGAAGGTGAGAGTGGCCAGTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTACAACGGCGGGCGGGAAACAGTGCTGGTTTGGTCTGGGCTGCGGCAAGGCCAGGGAAGGGGAAGGTGACTCTAGGTCCTGTAAAAGGCTGTCCAGTTGCCGAGAACTCCTGATATTGGCTTAGCCTGGCCCAGAAAATTGAGAATACTTGAACCTAAGCCCATTCCTCGCAGCCCCCCTGCACCCTGGACACCAAGCAACCCCTTCCATGGATGCTCACCCAATTCGATTCTCTCTACAATCCTATGGCTCTTTTGCTCACTTTATGAATGGAGAGACTGAGGTCAGACAGACTGTCAATTGCCCAAGGTCACACAGCAGACCTGGCATTGGAACCCAGATCTGCCAGCCTCAAACCCTCCGGCAGAGCTCAGCTTCTCAGAACCCTCCCCTTCATGCCCAGGACAGGGTTCCTCTGAGCCTGGCCTGGAGGCTCATGGGTGGCTATTTCTGCAGGGCGGAATGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGACTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCATTCCACTCCATCCATTCCATCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCCATACCTGGCTCCATCCACTCCACTCCATCTACTACATTCAACTCTACTCCATCCACTCCATACTCTATTCCATCCACTTACTCCATCCACTCCATTCAGCTCCACTCCATCCACTCCACTCACTCAACTCCATCTACTCCACTCCCTCTACTTCATTCAACTCTGCTCCATCCACTCCACTCCACCCATTCCATCCACTGCACTCCAACCAGCTCCATTAGACTCCACTCCATCCACTCTACCCACTCTTCTCTCCACTCCTCTCCACTACATACCATTTTATTCTATCTGTCCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAGCGGCGGTC
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Task1_train_18870
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This is a variant in HNF1A (HNF1 homeobox A), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Monogenic diabetes
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CCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAGCGGCGGTCCCTTAGTGACAGTGTCTACACCCCTCCACCAAGTGTCCCCCACGGGCCTGGAGCCCAGCCACAGCCTGCTGAGTACAGAAGCCAAGCTGGTGAGTGTCCTTGCTTGTAAGGAAAACCCAACCTCATCTTTCCTTGGCAGGGAGATTCTGGAGCAGTCCCTAGGGAGGCCCTGTGGGGACCCCGGCCCCCCGGACACAGCTTGGCTTCCCCTCGTAGGTCTCAGCAGCTGGGGGCCCCCTCCCCCCTGTCAGCACCCTGACAGCACTGCACAGCTTGGAGCAGACATCCCCAGGCCTCAACCAGCAGCCCCAGAACCTCATCATGGCCTCACTTCCTGGGGTCATGACCATCGGGCCTGGTGAGCCTGCCTCCCTGGGTCCTACGTTCACCAACACAGGTGCCTCCACCCTGGTCATCGGTAAGCTGGTGGGGATGGGTGGGCACCTGGGTGGGAGGCTCATGGGGCAACCGCAGAATCCAGGAGCTGGAAGAGCCACTGGGACTCATTCATTCATTCATACAACATGTATTTATCCAGTGCCTACTCTGGACCAGTCACTGTGCTACATCAGTGATACCTGGGTGAACCAAACAGACCAAAATCTCAGCAACTCAAGCAGGGAGGCAGGCACTAAGCATAATACATCAATTCTGTGGTACCTCAGAAGGTGAAGGGTCTATGGGCAAATTACAGCAGGGTAAGGGGGACTGATGTTTTCTAAGTTTTTGTTTTATGAAGAAAAATTAAGCCCAGAAAGCCCTTATTTGCAGGTACAATTATGCAGAAGCCCAGTACATAAGATAGATAAGGAGCTGCTAGGAGAGGGGAGCAGAGAACTGACCCCATGGCCTTTGCACTGCTGTGGAACCCCAGGGCTCCAGGGAACCGCAGTTTGACAACTTTTGAACAAGTCACCGCCTGCCTCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTGCACGACTGCTTGTGTGAGCAGATCCCTAGTGCGTGTCTGGGTGTGTATCGGTTGTGCATGCATTTGTGTGCATGCCTGTGTTTCTCTGAAACTCTTAGGGCCATATGAATTTCTAAAATCTATTCAGATTTTAGAAAGGTAATCTGGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGAGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTGCACTCCAGCCTGGGCAACAGAGTGAGTACTCTGCCAAAAAAAAAAAAAAGAAAAAGAAAAGTAATTTGGTGGATATGCCAGCTATCACATAACACTCCCAGCAGGGTTTGAGACAGCCCCCTGTGATCAAAGCACTGCTATTTCTGCAGCCAAAGATAGGATTTCCACAAGGCAGTTTAAACACTCATAACCTCATACCAGGTTCAGGCTGGGTTTCGCCACCAAATGAGCTCTAGTGCCAATCTTAAGGAAATCTTTTGGTTTCAGACCTTTTTGGAATTTGGGACTGGGTTAAGAGATTTGGGGCCTGTGTATGTCTGTGTGTACATGGTTGAGAGTGTATGCGTGTGTGTGTGTTACATTTTTATCTGAGTCACTGTGAGAATATGTGGTTTATGTGCGTTTTCCTAGTGTCTGTGTGTCTCTTGTAGGGTCTATGTGTCTCCTGAGGGGTGGGTGGAGGTGCTGTAGGCAAAACATGGGGTTATATTTGGAAAGGTGGCCTGGAGATGGAAGTACTGCTGTCCTCTGCCTTGCTCTTTGACAGGGGCCACCTGAACTTACTACACAGCACCTGAGTTTAGTACAGTAGCACCTGTGCTTAGTACATAGCACCTGTGTTTAGTATAGTAGCACCTGTGCTTAGTACATAGCGCCTGCATTTAGTACAGTAGCACCTGCGCTTAGTACGTAGCACCCGTGCTTAGTACAGTAGCCCTGCACCTGCACCTCCCGTTCCCTTTCATACCTGCTGTCTCCAGGTGACAAGAGGAGCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCCCAGGTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCTCAGGCCACCACC
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CCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCAATTCATTCATTTCAGATTGTATCAATTCAATTCATTTCAATTCAACTAAATTCAGTTAAATTCAGTTCAGTTGTCTTCTACTGAGCACCTACTGCATGTCAGGTATAGCACTAGGCAGTGGGAGGAATGGAGCTAATAAATGCAGTCCCAGCCTTCAAGGAACTGGGAGCAGCTGACCCAGGGCTTGGCAAAAGGTAGAAACAAAGGCAGATTTGCTGGCTGCATAAAGGCAGACAGGCAGCTGGCCTAAGCAAACCAATGGAGTTTGAAGTGCTGAGGGCTGTGGAGGCAGGGGAGGGCAGGGAAGTGGGGTGCTGAGGCAGGACACTGCTTCCCTCTCCAGGTGTGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAGCGGCGGTCCCTTAGTGACAGTGTCTACACCCCTCCACCAAGTGTCCCCCACGGGCCTGGAGCCCAGCCACAGCCTGCTGAGTACAGAAGCCAAGCTGGTGAGTGTCCTTGCTTGTAAGGAAAACCCAACCTCATCTTTCCTTGGCAGGGAGATTCTGGAGCAGTCCCTAGGGAGGCCCTGTGGGGACCCCGGCCCCCCGGACACAGCTTGGCTTCCCCTCGTAGGTCTCAGCAGCTGGGGGCCCCCTCCCCCCTGTCAGCACCCTGACAGCACTGCACAGCTTGGAGCAGACATCCCCAGGCCTCAACCAGCAGCCCCAGAACCTCATCATGGCCTCACTTCCTGGGGTCATGACCATCGGGCCTGGTGAGCCTGCCTCCCTGGGTCCTACGTTCACCAACACAGGTGCCTCCACCCTGGTCATCGGTAAGCTGGTGGGGATGGGTGGGCACCTGGGTGGGAGGCTCATGGGGCAACCGCAGAATCCAGGAGCTGGAAGAGCCACTGGGACTCATTCATTCATTCATACAACATGTATTTATCCAGTGCCTACTCTGGACCAGTCACTGTGCTACATCAGTGATACCTGGGTGAACCAAACAGACCAAAATCTCAGCAACTCAAGCAGGGAGGCAGGCACTAAGCATAATACATCAATTCTGTGGTACCTCAGAAGGTGAAGGGTCTATGGGCAAATTACAGCAGGGTAAGGGGGACTGATGTTTTCTAAGTTTTTGTTTTATGAAGAAAAATTAAGCCCAGAAAGCCCTTATTTGCAGGTACAATTATGCAGAAGCCCAGTACATAAGATAGATAAGGAGCTGCTAGGAGAGGGGAGCAGAGAACTGACCCCATGGCCTTTGCACTGCTGTGGAACCCCAGGGCTCCAGGGAACCGCAGTTTGACAACTTTTGAACAAGTCACCGCCTGCCTCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCTGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTGCACGACTGCTTGTGTGAGCAGATCCCTAGTGCGTGTCTGGGTGTGTATCGGTTGTGCATGCATTTGTGTGCATGCCTGTGTTTCTCTGAAACTCTTAGGGCCATATGAATTTCTAAAATCTATTCAGATTTTAGAAAGGTAATCTGGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGAGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTGCACTCCAGCCTGGGCAACAGAGTGAGTACTCTGCCAAAAAAAAAAAAAAGAAAAAGAAAAGTAATTTGGTGGATATGCCAGCTATCACATAACACTCCCAGCAGGGTTTGAGACAGCCCCCTGTGATCAAAGCACTGCTATTTCTGCAGCCAAAGATAGGATTTCCACAAGGCAGTTTAAACACTCATAACCTCATACCAGGTTCAGGCTGGGTTTCGCCACCAAATGAGCTCTAGTGCCAATCTTAAGGAAATCTTTTGGTTTCAGACCTTTTTGGAATTTGGGACTGGGTTAAGAGATTTGGGGCCTGTGTATGTCTGTGTGTACATGGTTGAGAGTGTATGCGTGTGTGTGTGTTACATTTTTATCTGAGTCACTGTGAGAATATGTGGTTTATGTGCGTTTTCCTAGTGTCTGTGTGTCTCTTGTAGGGTCTATGTGTCTCCTGAGGGGTGGGTGGAGGTGCTGTAGGCAAAACATGGGGTTATATTTGGAAAGGTGGCCTGGAGATGGAAGTACTGCTGTCCTCTGCCTTGCTCTTTGACAGGGGCCACCTGAACTTACTACACAGCACCTGAGTTTAGTACAGTAGCACCTGTGCTTAGTACATAGCACCTGTGTTTAGTATAGTAGCACCTGTGCTTAGTACATAGCGCCTGCATTTAGTACAGTAGCACCTGCGCTTAGTACGTAGCACCCGTGCTTAGTACAGTAGCCCTGCACCTGCACCTCCCGTTCCCTTTCATACCTGCTGTCTCCAGGTGACAAGAGGAGCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCCCAGGTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCTCAGGCCACCACC
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Task1_train_18871
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This mutation occurs in HNF1A (HNF1 homeobox A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Maturity onset diabetes mellitus in young
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TCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTGCACGACTGCTTGTGTGAGCAGATCCCTAGTGCGTGTCTGGGTGTGTATCGGTTGTGCATGCATTTGTGTGCATGCCTGTGTTTCTCTGAAACTCTTAGGGCCATATGAATTTCTAAAATCTATTCAGATTTTAGAAAGGTAATCTGGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGAGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTGCACTCCAGCCTGGGCAACAGAGTGAGTACTCTGCCAAAAAAAAAAAAAAGAAAAAGAAAAGTAATTTGGTGGATATGCCAGCTATCACATAACACTCCCAGCAGGGTTTGAGACAGCCCCCTGTGATCAAAGCACTGCTATTTCTGCAGCCAAAGATAGGATTTCCACAAGGCAGTTTAAACACTCATAACCTCATACCAGGTTCAGGCTGGGTTTCGCCACCAAATGAGCTCTAGTGCCAATCTTAAGGAAATCTTTTGGTTTCAGACCTTTTTGGAATTTGGGACTGGGTTAAGAGATTTGGGGCCTGTGTATGTCTGTGTGTACATGGTTGAGAGTGTATGCGTGTGTGTGTGTTACATTTTTATCTGAGTCACTGTGAGAATATGTGGTTTATGTGCGTTTTCCTAGTGTCTGTGTGTCTCTTGTAGGGTCTATGTGTCTCCTGAGGGGTGGGTGGAGGTGCTGTAGGCAAAACATGGGGTTATATTTGGAAAGGTGGCCTGGAGATGGAAGTACTGCTGTCCTCTGCCTTGCTCTTTGACAGGGGCCACCTGAACTTACTACACAGCACCTGAGTTTAGTACAGTAGCACCTGTGCTTAGTACATAGCACCTGTGTTTAGTATAGTAGCACCTGTGCTTAGTACATAGCGCCTGCATTTAGTACAGTAGCACCTGCGCTTAGTACGTAGCACCCGTGCTTAGTACAGTAGCCCTGCACCTGCACCTCCCGTTCCCTTTCATACCTGCTGTCTCCAGGTGACAAGAGGAGCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCCCAGGTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCTCAGGCCACCACCCTCCACGTCCCCAGCCAGGACCCTGCCAGCATCCAGCACCTGCAGCCGGCCCACCGGCTCAGCGCCAGCCCCACAGGTGAGAGGCCCTGGCTCCACCCCCTCCCTTACTGTCCCTGCCCCCTTCCATGTTGGTCCCACCCCTTCTGTTGCTGTCCGTCACTGTGGGGCTGTGCATGCAGCAGGCCTAGGGCTGCTGTGAGGAAGCACTGGCAGGCGTGGAGGGGTGGGGTGGGCTTCCATGAAGCCCAAGAGGCACAGGCGACCCCAGGAAGATGGGGCCCACCTTACAAGAACATCTCAGGGACTGGACTGAGGAAAATGATGAAGTAATTGTTAGAGGCAGTGGAGAGTAACGATAAGGACCAGGTCTGTGAGCCAGAAGCGACTCTTGCATGTGTTTGGTTTGGCTTGGCTCAGGGTTGAACATTCTTTGAATTTGTTGCCAACATTTCAAAATCAGGAATTTTCACATAGAAATCCAGATTTCTGGCATCTTTTGGAAAATTGGAAAAATTCATATTCCCATATAACAGTGCACCAGGCCTCACTGCATCCACTCACATCGGCTCCAATGACCCCTGGCGGTGGGGCGGTCACCTGAGTTTGTAATCTATGATGCCATTGTCAGGAGTGGGCACTTTGGAGTCAGGTGGGTGGGCTTTGCAGCCTGCCTTTTTGCAAGCTGCCCCCTTTCTATAAGGTTCCTGGACCCGGCCCTGGCAGCTGTCATGACAGCCACTGAGGCCATTCTGTGTCCTGGCATTCACCCCATGAGGCGTGTCCATGACCACCCCCATTTTACAGATGAGAAAGTGGACACTCAAGGAGGGGAGGGACTTGCCTCATCTCCCACAGCTACCAGATGGCAGGGCCAGGACTCGAACCCAGGTCCCACCTCAAAGCCCATTCTCTTAACCATTGCCATCAGTCAGGGTTCTCCAGGAACACAGAACCAACAGATTTATTTGAAGGACTTGGCCCGTGTCTGCGGGGGGCTGGCAGGCCTGAAATCTGTTGCTGGCAGCTCTGGGGAGTGAATTCTGCAGCCTTGAGGCAGAATTCCTTCTCTGGGAAACCGGTTTTTGCTCTTACGGCCTTCCACTGATGTAGGAGGCCCACCCATATTTTCAGGGTAATCTCCTTCACTCAAAGCCAACTGATTGTGGCATTAACCACATCTACAAAGCACCTGCATTCACAGCAGCGCCTAGATTAGTGTTTGACTCAGCCTAGCCAAGCCAACACGTACAACTACCTACCTCGGCATCTCACCGGGGCTTCTCCAGTGTTCACACTAAGATGTACTCAGGCCACTCCATGGGCGGCCGTGGACCCTGGCTGGGAGGCTCCCTTTGAAGAACCGAGGGTAGAGGTGTGACTTTGGGGTTCCTGTTATCTGCTGTGATCCAGGAGGTGTGGCCCTGCCTCCCCATCCTGAGTACCCCTAGGGACAGGCAGGTGGGGTGGGTGTGGGTGCCTGGTGGGTGGCTAGCAGCCTTGTTTGCCTCTGCAGTGTCCTCCAGCAGCCTGGTGCTGTACCAGAGCTCAGACTCCAGCAATGGCCAGAGCCACCTGCTGCCATCCAACCACAGCGTCATCGAGACCTTCATCTCCACCCAGATGGCCTCTTCCTCCCAGTAACCACGGCACCTGGGCCCTGGGGCCTGTACTGCCTGCTTGGGGGGTGATGAGGGCAGCAGCCAGCCCTGCCTGGAGGACCTGAGCCTGCCGAGCAACCGTGGCCCTTCCTGGACAGCTGTGCCTCGCTCCCCACTCTGCTCTGATGCATCAGA
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TCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTGCACGACTGCTTGTGTGAGCAGATCCCTAGTGCGTGTCTGGGTGTGTATCGGTTGTGCATGCATTTGTGTGCATGCCTGTGTTTCTCTGAAACTCTTAGGGCCATATGAATTTCTAAAATCTATTCAGATTTTAGAAAGGTAATCTGGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGAGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTGCACTCCAGCCTGGGCAACAGAGTGAGTACTCTGCCAAAAAAAAAAAAAAGAAAAAGAAAAGTAATTTGGTGGATATGCCAGCTATCACATAACACTCCCAGCAGGGTTTGAGACAGCCCCCTGTGATCAAAGCACTGCTATTTCTGCAGCCAAAGATAGGATTTCCACAAGGCAGTTTAAACACTCATAACCTCATACCAGGTTCAGGCTGGGTTTCGCCACCAAATGAGCTCTAGTGCCAATCTTAAGGAAATCTTTTGGTTTCAGACCTTTTTGGAATTTGGGACTGGGTTAAGAGATTTGGGGCCTGTGTATGTCTGTGTGTACATGGTTGAGAGTGTATGCGTGTGTGTGTGTTACATTTTTATCTGAGTCACTGTGAGAATATGTGGTTTATGTGCGTTTTCCTAGTGTCTGTGTGTCTCTTGTAGGGTCTATGTGTCTCCTGAGGGGTGGGTGGAGGTGCTGTAGGCAAAACATGGGGTTATATTTGGAAAGGTGGCCTGGAGATGGAAGTACTGCTGTCCTCTGCCTTGCTCTTTGACAGGGGCCACCTGAACTTACTACACAGCACCTGAGTTTAGTACAGTAGCACCTGTGCTTAGTACATAGCACCTGTGTTTAGTATAGTAGCACCTGTGCTTAGTACATAGCGCCTGCATTTAGTACAGTAGCACCTGCGCTTAGTACGTAGCACCCGTGCTTAGTACAGTAGCCCTGCACCTGCACCTCCCGTTCCCTTTCATACCTGCTGTCTCCAGGTGACAAGAGGAGCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCGAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCCCAGGTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCTCAGGCCACCACCCTCCACGTCCCCAGCCAGGACCCTGCCAGCATCCAGCACCTGCAGCCGGCCCACCGGCTCAGCGCCAGCCCCACAGGTGAGAGGCCCTGGCTCCACCCCCTCCCTTACTGTCCCTGCCCCCTTCCATGTTGGTCCCACCCCTTCTGTTGCTGTCCGTCACTGTGGGGCTGTGCATGCAGCAGGCCTAGGGCTGCTGTGAGGAAGCACTGGCAGGCGTGGAGGGGTGGGGTGGGCTTCCATGAAGCCCAAGAGGCACAGGCGACCCCAGGAAGATGGGGCCCACCTTACAAGAACATCTCAGGGACTGGACTGAGGAAAATGATGAAGTAATTGTTAGAGGCAGTGGAGAGTAACGATAAGGACCAGGTCTGTGAGCCAGAAGCGACTCTTGCATGTGTTTGGTTTGGCTTGGCTCAGGGTTGAACATTCTTTGAATTTGTTGCCAACATTTCAAAATCAGGAATTTTCACATAGAAATCCAGATTTCTGGCATCTTTTGGAAAATTGGAAAAATTCATATTCCCATATAACAGTGCACCAGGCCTCACTGCATCCACTCACATCGGCTCCAATGACCCCTGGCGGTGGGGCGGTCACCTGAGTTTGTAATCTATGATGCCATTGTCAGGAGTGGGCACTTTGGAGTCAGGTGGGTGGGCTTTGCAGCCTGCCTTTTTGCAAGCTGCCCCCTTTCTATAAGGTTCCTGGACCCGGCCCTGGCAGCTGTCATGACAGCCACTGAGGCCATTCTGTGTCCTGGCATTCACCCCATGAGGCGTGTCCATGACCACCCCCATTTTACAGATGAGAAAGTGGACACTCAAGGAGGGGAGGGACTTGCCTCATCTCCCACAGCTACCAGATGGCAGGGCCAGGACTCGAACCCAGGTCCCACCTCAAAGCCCATTCTCTTAACCATTGCCATCAGTCAGGGTTCTCCAGGAACACAGAACCAACAGATTTATTTGAAGGACTTGGCCCGTGTCTGCGGGGGGCTGGCAGGCCTGAAATCTGTTGCTGGCAGCTCTGGGGAGTGAATTCTGCAGCCTTGAGGCAGAATTCCTTCTCTGGGAAACCGGTTTTTGCTCTTACGGCCTTCCACTGATGTAGGAGGCCCACCCATATTTTCAGGGTAATCTCCTTCACTCAAAGCCAACTGATTGTGGCATTAACCACATCTACAAAGCACCTGCATTCACAGCAGCGCCTAGATTAGTGTTTGACTCAGCCTAGCCAAGCCAACACGTACAACTACCTACCTCGGCATCTCACCGGGGCTTCTCCAGTGTTCACACTAAGATGTACTCAGGCCACTCCATGGGCGGCCGTGGACCCTGGCTGGGAGGCTCCCTTTGAAGAACCGAGGGTAGAGGTGTGACTTTGGGGTTCCTGTTATCTGCTGTGATCCAGGAGGTGTGGCCCTGCCTCCCCATCCTGAGTACCCCTAGGGACAGGCAGGTGGGGTGGGTGTGGGTGCCTGGTGGGTGGCTAGCAGCCTTGTTTGCCTCTGCAGTGTCCTCCAGCAGCCTGGTGCTGTACCAGAGCTCAGACTCCAGCAATGGCCAGAGCCACCTGCTGCCATCCAACCACAGCGTCATCGAGACCTTCATCTCCACCCAGATGGCCTCTTCCTCCCAGTAACCACGGCACCTGGGCCCTGGGGCCTGTACTGCCTGCTTGGGGGGTGATGAGGGCAGCAGCCAGCCCTGCCTGGAGGACCTGAGCCTGCCGAGCAACCGTGGCCCTTCCTGGACAGCTGTGCCTCGCTCCCCACTCTGCTCTGATGCATCAGA
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Task1_train_18872
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A change on Chromosome 12 affects gene HNF1A (HNF1 homeobox A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Monogenic diabetes
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TAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTGCACGACTGCTTGTGTGAGCAGATCCCTAGTGCGTGTCTGGGTGTGTATCGGTTGTGCATGCATTTGTGTGCATGCCTGTGTTTCTCTGAAACTCTTAGGGCCATATGAATTTCTAAAATCTATTCAGATTTTAGAAAGGTAATCTGGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGAGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTGCACTCCAGCCTGGGCAACAGAGTGAGTACTCTGCCAAAAAAAAAAAAAAGAAAAAGAAAAGTAATTTGGTGGATATGCCAGCTATCACATAACACTCCCAGCAGGGTTTGAGACAGCCCCCTGTGATCAAAGCACTGCTATTTCTGCAGCCAAAGATAGGATTTCCACAAGGCAGTTTAAACACTCATAACCTCATACCAGGTTCAGGCTGGGTTTCGCCACCAAATGAGCTCTAGTGCCAATCTTAAGGAAATCTTTTGGTTTCAGACCTTTTTGGAATTTGGGACTGGGTTAAGAGATTTGGGGCCTGTGTATGTCTGTGTGTACATGGTTGAGAGTGTATGCGTGTGTGTGTGTTACATTTTTATCTGAGTCACTGTGAGAATATGTGGTTTATGTGCGTTTTCCTAGTGTCTGTGTGTCTCTTGTAGGGTCTATGTGTCTCCTGAGGGGTGGGTGGAGGTGCTGTAGGCAAAACATGGGGTTATATTTGGAAAGGTGGCCTGGAGATGGAAGTACTGCTGTCCTCTGCCTTGCTCTTTGACAGGGGCCACCTGAACTTACTACACAGCACCTGAGTTTAGTACAGTAGCACCTGTGCTTAGTACATAGCACCTGTGTTTAGTATAGTAGCACCTGTGCTTAGTACATAGCGCCTGCATTTAGTACAGTAGCACCTGCGCTTAGTACGTAGCACCCGTGCTTAGTACAGTAGCCCTGCACCTGCACCTCCCGTTCCCTTTCATACCTGCTGTCTCCAGGTGACAAGAGGAGCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCCCAGGTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCTCAGGCCACCACCCTCCACGTCCCCAGCCAGGACCCTGCCAGCATCCAGCACCTGCAGCCGGCCCACCGGCTCAGCGCCAGCCCCACAGGTGAGAGGCCCTGGCTCCACCCCCTCCCTTACTGTCCCTGCCCCCTTCCATGTTGGTCCCACCCCTTCTGTTGCTGTCCGTCACTGTGGGGCTGTGCATGCAGCAGGCCTAGGGCTGCTGTGAGGAAGCACTGGCAGGCGTGGAGGGGTGGGGTGGGCTTCCATGAAGCCCAAGAGGCACAGGCGACCCCAGGAAGATGGGGCCCACCTTACAAGAACATCTCAGGGACTGGACTGAGGAAAATGATGAAGTAATTGTTAGAGGCAGTGGAGAGTAACGATAAGGACCAGGTCTGTGAGCCAGAAGCGACTCTTGCATGTGTTTGGTTTGGCTTGGCTCAGGGTTGAACATTCTTTGAATTTGTTGCCAACATTTCAAAATCAGGAATTTTCACATAGAAATCCAGATTTCTGGCATCTTTTGGAAAATTGGAAAAATTCATATTCCCATATAACAGTGCACCAGGCCTCACTGCATCCACTCACATCGGCTCCAATGACCCCTGGCGGTGGGGCGGTCACCTGAGTTTGTAATCTATGATGCCATTGTCAGGAGTGGGCACTTTGGAGTCAGGTGGGTGGGCTTTGCAGCCTGCCTTTTTGCAAGCTGCCCCCTTTCTATAAGGTTCCTGGACCCGGCCCTGGCAGCTGTCATGACAGCCACTGAGGCCATTCTGTGTCCTGGCATTCACCCCATGAGGCGTGTCCATGACCACCCCCATTTTACAGATGAGAAAGTGGACACTCAAGGAGGGGAGGGACTTGCCTCATCTCCCACAGCTACCAGATGGCAGGGCCAGGACTCGAACCCAGGTCCCACCTCAAAGCCCATTCTCTTAACCATTGCCATCAGTCAGGGTTCTCCAGGAACACAGAACCAACAGATTTATTTGAAGGACTTGGCCCGTGTCTGCGGGGGGCTGGCAGGCCTGAAATCTGTTGCTGGCAGCTCTGGGGAGTGAATTCTGCAGCCTTGAGGCAGAATTCCTTCTCTGGGAAACCGGTTTTTGCTCTTACGGCCTTCCACTGATGTAGGAGGCCCACCCATATTTTCAGGGTAATCTCCTTCACTCAAAGCCAACTGATTGTGGCATTAACCACATCTACAAAGCACCTGCATTCACAGCAGCGCCTAGATTAGTGTTTGACTCAGCCTAGCCAAGCCAACACGTACAACTACCTACCTCGGCATCTCACCGGGGCTTCTCCAGTGTTCACACTAAGATGTACTCAGGCCACTCCATGGGCGGCCGTGGACCCTGGCTGGGAGGCTCCCTTTGAAGAACCGAGGGTAGAGGTGTGACTTTGGGGTTCCTGTTATCTGCTGTGATCCAGGAGGTGTGGCCCTGCCTCCCCATCCTGAGTACCCCTAGGGACAGGCAGGTGGGGTGGGTGTGGGTGCCTGGTGGGTGGCTAGCAGCCTTGTTTGCCTCTGCAGTGTCCTCCAGCAGCCTGGTGCTGTACCAGAGCTCAGACTCCAGCAATGGCCAGAGCCACCTGCTGCCATCCAACCACAGCGTCATCGAGACCTTCATCTCCACCCAGATGGCCTCTTCCTCCCAGTAACCACGGCACCTGGGCCCTGGGGCCTGTACTGCCTGCTTGGGGGGTGATGAGGGCAGCAGCCAGCCCTGCCTGGAGGACCTGAGCCTGCCGAGCAACCGTGGCCCTTCCTGGACAGCTGTGCCTCGCTCCCCACTCTGCTCTGATGCATCAGAAAGGGAGGGCTCTGAGGCGCCCCAA
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TAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTGCACGACTGCTTGTGTGAGCAGATCCCTAGTGCGTGTCTGGGTGTGTATCGGTTGTGCATGCATTTGTGTGCATGCCTGTGTTTCTCTGAAACTCTTAGGGCCATATGAATTTCTAAAATCTATTCAGATTTTAGAAAGGTAATCTGGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGAGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTGCACTCCAGCCTGGGCAACAGAGTGAGTACTCTGCCAAAAAAAAAAAAAAGAAAAAGAAAAGTAATTTGGTGGATATGCCAGCTATCACATAACACTCCCAGCAGGGTTTGAGACAGCCCCCTGTGATCAAAGCACTGCTATTTCTGCAGCCAAAGATAGGATTTCCACAAGGCAGTTTAAACACTCATAACCTCATACCAGGTTCAGGCTGGGTTTCGCCACCAAATGAGCTCTAGTGCCAATCTTAAGGAAATCTTTTGGTTTCAGACCTTTTTGGAATTTGGGACTGGGTTAAGAGATTTGGGGCCTGTGTATGTCTGTGTGTACATGGTTGAGAGTGTATGCGTGTGTGTGTGTTACATTTTTATCTGAGTCACTGTGAGAATATGTGGTTTATGTGCGTTTTCCTAGTGTCTGTGTGTCTCTTGTAGGGTCTATGTGTCTCCTGAGGGGTGGGTGGAGGTGCTGTAGGCAAAACATGGGGTTATATTTGGAAAGGTGGCCTGGAGATGGAAGTACTGCTGTCCTCTGCCTTGCTCTTTGACAGGGGCCACCTGAACTTACTACACAGCACCTGAGTTTAGTACAGTAGCACCTGTGCTTAGTACATAGCACCTGTGTTTAGTATAGTAGCACCTGTGCTTAGTACATAGCGCCTGCATTTAGTACAGTAGCACCTGCGCTTAGTACGTAGCACCCGTGCTTAGTACAGTAGCCCTGCACCTGCACCTCCCGTTCCCTTTCATACCTGCTGTCTCCAGGTGACAAGAGGAGCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCTGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCCCAGGTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCTCAGGCCACCACCCTCCACGTCCCCAGCCAGGACCCTGCCAGCATCCAGCACCTGCAGCCGGCCCACCGGCTCAGCGCCAGCCCCACAGGTGAGAGGCCCTGGCTCCACCCCCTCCCTTACTGTCCCTGCCCCCTTCCATGTTGGTCCCACCCCTTCTGTTGCTGTCCGTCACTGTGGGGCTGTGCATGCAGCAGGCCTAGGGCTGCTGTGAGGAAGCACTGGCAGGCGTGGAGGGGTGGGGTGGGCTTCCATGAAGCCCAAGAGGCACAGGCGACCCCAGGAAGATGGGGCCCACCTTACAAGAACATCTCAGGGACTGGACTGAGGAAAATGATGAAGTAATTGTTAGAGGCAGTGGAGAGTAACGATAAGGACCAGGTCTGTGAGCCAGAAGCGACTCTTGCATGTGTTTGGTTTGGCTTGGCTCAGGGTTGAACATTCTTTGAATTTGTTGCCAACATTTCAAAATCAGGAATTTTCACATAGAAATCCAGATTTCTGGCATCTTTTGGAAAATTGGAAAAATTCATATTCCCATATAACAGTGCACCAGGCCTCACTGCATCCACTCACATCGGCTCCAATGACCCCTGGCGGTGGGGCGGTCACCTGAGTTTGTAATCTATGATGCCATTGTCAGGAGTGGGCACTTTGGAGTCAGGTGGGTGGGCTTTGCAGCCTGCCTTTTTGCAAGCTGCCCCCTTTCTATAAGGTTCCTGGACCCGGCCCTGGCAGCTGTCATGACAGCCACTGAGGCCATTCTGTGTCCTGGCATTCACCCCATGAGGCGTGTCCATGACCACCCCCATTTTACAGATGAGAAAGTGGACACTCAAGGAGGGGAGGGACTTGCCTCATCTCCCACAGCTACCAGATGGCAGGGCCAGGACTCGAACCCAGGTCCCACCTCAAAGCCCATTCTCTTAACCATTGCCATCAGTCAGGGTTCTCCAGGAACACAGAACCAACAGATTTATTTGAAGGACTTGGCCCGTGTCTGCGGGGGGCTGGCAGGCCTGAAATCTGTTGCTGGCAGCTCTGGGGAGTGAATTCTGCAGCCTTGAGGCAGAATTCCTTCTCTGGGAAACCGGTTTTTGCTCTTACGGCCTTCCACTGATGTAGGAGGCCCACCCATATTTTCAGGGTAATCTCCTTCACTCAAAGCCAACTGATTGTGGCATTAACCACATCTACAAAGCACCTGCATTCACAGCAGCGCCTAGATTAGTGTTTGACTCAGCCTAGCCAAGCCAACACGTACAACTACCTACCTCGGCATCTCACCGGGGCTTCTCCAGTGTTCACACTAAGATGTACTCAGGCCACTCCATGGGCGGCCGTGGACCCTGGCTGGGAGGCTCCCTTTGAAGAACCGAGGGTAGAGGTGTGACTTTGGGGTTCCTGTTATCTGCTGTGATCCAGGAGGTGTGGCCCTGCCTCCCCATCCTGAGTACCCCTAGGGACAGGCAGGTGGGGTGGGTGTGGGTGCCTGGTGGGTGGCTAGCAGCCTTGTTTGCCTCTGCAGTGTCCTCCAGCAGCCTGGTGCTGTACCAGAGCTCAGACTCCAGCAATGGCCAGAGCCACCTGCTGCCATCCAACCACAGCGTCATCGAGACCTTCATCTCCACCCAGATGGCCTCTTCCTCCCAGTAACCACGGCACCTGGGCCCTGGGGCCTGTACTGCCTGCTTGGGGGGTGATGAGGGCAGCAGCCAGCCCTGCCTGGAGGACCTGAGCCTGCCGAGCAACCGTGGCCCTTCCTGGACAGCTGTGCCTCGCTCCCCACTCTGCTCTGATGCATCAGAAAGGGAGGGCTCTGAGGCGCCCCAA
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Task1_train_18873
|
A variant on Chromosome 12 in gene C12orf43, HNF1A (chromosome 12 open reading frame 43| HNF1 homeobox A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Monogenic diabetes
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GTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCCCAGGTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCTCAGGCCACCACCCTCCACGTCCCCAGCCAGGACCCTGCCAGCATCCAGCACCTGCAGCCGGCCCACCGGCTCAGCGCCAGCCCCACAGGTGAGAGGCCCTGGCTCCACCCCCTCCCTTACTGTCCCTGCCCCCTTCCATGTTGGTCCCACCCCTTCTGTTGCTGTCCGTCACTGTGGGGCTGTGCATGCAGCAGGCCTAGGGCTGCTGTGAGGAAGCACTGGCAGGCGTGGAGGGGTGGGGTGGGCTTCCATGAAGCCCAAGAGGCACAGGCGACCCCAGGAAGATGGGGCCCACCTTACAAGAACATCTCAGGGACTGGACTGAGGAAAATGATGAAGTAATTGTTAGAGGCAGTGGAGAGTAACGATAAGGACCAGGTCTGTGAGCCAGAAGCGACTCTTGCATGTGTTTGGTTTGGCTTGGCTCAGGGTTGAACATTCTTTGAATTTGTTGCCAACATTTCAAAATCAGGAATTTTCACATAGAAATCCAGATTTCTGGCATCTTTTGGAAAATTGGAAAAATTCATATTCCCATATAACAGTGCACCAGGCCTCACTGCATCCACTCACATCGGCTCCAATGACCCCTGGCGGTGGGGCGGTCACCTGAGTTTGTAATCTATGATGCCATTGTCAGGAGTGGGCACTTTGGAGTCAGGTGGGTGGGCTTTGCAGCCTGCCTTTTTGCAAGCTGCCCCCTTTCTATAAGGTTCCTGGACCCGGCCCTGGCAGCTGTCATGACAGCCACTGAGGCCATTCTGTGTCCTGGCATTCACCCCATGAGGCGTGTCCATGACCACCCCCATTTTACAGATGAGAAAGTGGACACTCAAGGAGGGGAGGGACTTGCCTCATCTCCCACAGCTACCAGATGGCAGGGCCAGGACTCGAACCCAGGTCCCACCTCAAAGCCCATTCTCTTAACCATTGCCATCAGTCAGGGTTCTCCAGGAACACAGAACCAACAGATTTATTTGAAGGACTTGGCCCGTGTCTGCGGGGGGCTGGCAGGCCTGAAATCTGTTGCTGGCAGCTCTGGGGAGTGAATTCTGCAGCCTTGAGGCAGAATTCCTTCTCTGGGAAACCGGTTTTTGCTCTTACGGCCTTCCACTGATGTAGGAGGCCCACCCATATTTTCAGGGTAATCTCCTTCACTCAAAGCCAACTGATTGTGGCATTAACCACATCTACAAAGCACCTGCATTCACAGCAGCGCCTAGATTAGTGTTTGACTCAGCCTAGCCAAGCCAACACGTACAACTACCTACCTCGGCATCTCACCGGGGCTTCTCCAGTGTTCACACTAAGATGTACTCAGGCCACTCCATGGGCGGCCGTGGACCCTGGCTGGGAGGCTCCCTTTGAAGAACCGAGGGTAGAGGTGTGACTTTGGGGTTCCTGTTATCTGCTGTGATCCAGGAGGTGTGGCCCTGCCTCCCCATCCTGAGTACCCCTAGGGACAGGCAGGTGGGGTGGGTGTGGGTGCCTGGTGGGTGGCTAGCAGCCTTGTTTGCCTCTGCAGTGTCCTCCAGCAGCCTGGTGCTGTACCAGAGCTCAGACTCCAGCAATGGCCAGAGCCACCTGCTGCCATCCAACCACAGCGTCATCGAGACCTTCATCTCCACCCAGATGGCCTCTTCCTCCCAGTAACCACGGCACCTGGGCCCTGGGGCCTGTACTGCCTGCTTGGGGGGTGATGAGGGCAGCAGCCAGCCCTGCCTGGAGGACCTGAGCCTGCCGAGCAACCGTGGCCCTTCCTGGACAGCTGTGCCTCGCTCCCCACTCTGCTCTGATGCATCAGAAAGGGAGGGCTCTGAGGCGCCCCAACCCGTGGAGGCTGCTCGGGGTGCACAGGAGGGGGTCGTGGAGAGCTAGGAGCAAAGCCTGTTCATGGCAGATGTAGGAGGGACTGTCGCTGCTTCGTGGGATACAGTCTTCTTACTTGGAACTGAAGGGGGCGGCCTATGACTTGGGCACCCCCAGCCTGGGCCTATGGAGAGCCCTGGGACCGCTACACCACTCTGGCAGCCACACTTCTCAGGACACAGGCCTGTGTAGCTGTGACCTGCTGAGCTCTGAGAGGCCCTGGATCAGCGTGGCCTTGTTCTGTCACCAATGTACCCACCGGGCCACTCCTTCCTGCCCCAACTCCTTCCAGCTAGTGACCCACATGCCATTTGTACTGACCCCATCACCTACTCACACAGGCATTTCCTGGGTGGCTACTCTGTGCCAGAGCCTGGGGCTCTAACGCCTGAGCCCAGGGAGGCCGAAGCTAACAGGGAAGGCAGGCAGGGCTCTCCTGGCTTCCCATCCCCAGCGATTCCCTCTCCCAGGCCCCATGACCTCCAGCTTTCCTGTATTTGTTCCCAAGAGCATCATGCCTCTGAGGCCAGCCTGGCCTCCTGCCTCTACTGGGAAGGCTACTTCGGGGCTGGGAAGTCGTCCTTACTCCTGTGGGAGCCTCGCAACCCGTGCCAAGTCCAGGTCCTGGTGGGGCAGCTCCTCTGTCTCGAGCGCCCTGCAGACCCTGCCCTTGTTTGGGGCAGGAGTAGCTGAGCTCACAAGGCAGCAAGGCCCGAGCAGCTGAGCAGGGCCGGGGAACTGGCCAAGCTGAGGTGCCCAGGAGAAGAAAGAGGTGACCCCAGGGCACAGGAGCTACCTGTGTGGACAGGACTAACACTCAGAAGCCTGGGGGCCTGGCTGGCTGAGGGCAGTTCGCAGCCACCCTGAGGAGTCTGAGGTCCTGAGCACTGCCAGGAGGGACAAAGGAGCCTGTGAACCCAGGACAAGCATGGTCCCACATCCCTGGGCCTGCTGCTGAGAACCTGGCCTTCAGTGTACCGCGTCTACCCTGGGATTCAGGAAAAGGCCTGGGGTGACCCGGCACCCCCTGCAGCTTGTAGCCAGCCGGGGCGAGTGGCACGTTTATTTAACTTTTAGTAAAGTCAAGGAGAAATGCGGTGGAAACTTCTTGCTTGTCCACAAATCATTCAGATGGGGTTTGGGCAGGTAGCGGGAGGCTGGGGCAGGCCAGAGGCCTGCGAAGAGGAGACAGGCTCCAGCACCCACGCTCTCACACCCCACATCTCTGCTTTTCTTGCTCTGCTGAGACTCTAATGACAAAGCCAGATTTCATCTTAACCTCAAGCTTCTACTTTTTAAAAAAATTTTGTTTTGGAGACAGGGTCTCACTGTCACCCAGGCTGGACTGCAGTGGCATTATACAGCTCACTGCAGCCTTGAACTCCTGGACTAAAGGGATCCTCCCACCTCAGCCTCACAAGCAGCCTCACAGGCGCTCACTACCATGCCCAACTAATTTTTGTATTCTTTTTTTTATAGAGACGAGGTTTCACCATGTTGCCTAGGCTGGTCTGGAACTCGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATCCCTGGCCATGAGCTTCTACTTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTGAGATAGGGTCTTGCTCCATTGCTTAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTGCACCTCCTGGGTT
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GTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCCCAGGTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCTCAGGCCACCACCCTCCACGTCCCCAGCCAGGACCCTGCCAGCATCCAGCACCTGCAGCCGGCCCACCGGCTCAGCGCCAGCCCCACAGGTGAGAGGCCCTGGCTCCACCCCCTCCCTTACTGTCCCTGCCCCCTTCCATGTTGGTCCCACCCCTTCTGTTGCTGTCCGTCACTGTGGGGCTGTGCATGCAGCAGGCCTAGGGCTGCTGTGAGGAAGCACTGGCAGGCGTGGAGGGGTGGGGTGGGCTTCCATGAAGCCCAAGAGGCACAGGCGACCCCAGGAAGATGGGGCCCACCTTACAAGAACATCTCAGGGACTGGACTGAGGAAAATGATGAAGTAATTGTTAGAGGCAGTGGAGAGTAACGATAAGGACCAGGTCTGTGAGCCAGAAGCGACTCTTGCATGTGTTTGGTTTGGCTTGGCTCAGGGTTGAACATTCTTTGAATTTGTTGCCAACATTTCAAAATCAGGAATTTTCACATAGAAATCCAGATTTCTGGCATCTTTTGGAAAATTGGAAAAATTCATATTCCCATATAACAGTGCACCAGGCCTCACTGCATCCACTCACATCGGCTCCAATGACCCCTGGCGGTGGGGCGGTCACCTGAGTTTGTAATCTATGATGCCATTGTCAGGAGTGGGCACTTTGGAGTCAGGTGGGTGGGCTTTGCAGCCTGCCTTTTTGCAAGCTGCCCCCTTTCTATAAGGTTCCTGGACCCGGCCCTGGCAGCTGTCATGACAGCCACTGAGGCCATTCTGTGTCCTGGCATTCACCCCATGAGGCGTGTCCATGACCACCCCCATTTTACAGATGAGAAAGTGGACACTCAAGGAGGGGAGGGACTTGCCTCATCTCCCACAGCTACCAGATGGCAGGGCCAGGACTCGAACCCAGGTCCCACCTCAAAGCCCATTCTCTTAACCATTGCCATCAGTCAGGGTTCTCCAGGAACACAGAACCAACAGATTTATTTGAAGGACTTGGCCCGTGTCTGCGGGGGGCTGGCAGGCCTGAAATCTGTTGCTGGCAGCTCTGGGGAGTGAATTCTGCAGCCTTGAGGCAGAATTCCTTCTCTGGGAAACCGGTTTTTGCTCTTACGGCCTTCCACTGATGTAGGAGGCCCACCCATATTTTCAGGGTAATCTCCTTCACTCAAAGCCAACTGATTGTGGCATTAACCACATCTACAAAGCACCTGCATTCACAGCAGCGCCTAGATTAGTGTTTGACTCAGCCTAGCCAAGCCAACACGTACAACTACCTACCTCGGCATCTCACCGGGGCTTCTCCAGTGTTCACACTAAGATGTACTCAGGCCACTCCATGGGCGGCCGTGGACCCTGGCTGGGAGGCTCCCTTTGAAGAACCGAGGGTAGAGGTGTGACTTTGGGGTTCCTGTTATCTGCTGTGATCCAGGAGGTGTGGCCCTGCCTCCCCATCCTGAGTACCCCTAGGGACAGGCAGGTGGGGTGGGTGTGGGTGCCTGGTGGGTGGCTAGCAGCCTTGTTTGCCTCTGCAGTGTCCTCCAGCATCCTGGTGCTGTACCAGAGCTCAGACTCCAGCAATGGCCAGAGCCACCTGCTGCCATCCAACCACAGCGTCATCGAGACCTTCATCTCCACCCAGATGGCCTCTTCCTCCCAGTAACCACGGCACCTGGGCCCTGGGGCCTGTACTGCCTGCTTGGGGGGTGATGAGGGCAGCAGCCAGCCCTGCCTGGAGGACCTGAGCCTGCCGAGCAACCGTGGCCCTTCCTGGACAGCTGTGCCTCGCTCCCCACTCTGCTCTGATGCATCAGAAAGGGAGGGCTCTGAGGCGCCCCAACCCGTGGAGGCTGCTCGGGGTGCACAGGAGGGGGTCGTGGAGAGCTAGGAGCAAAGCCTGTTCATGGCAGATGTAGGAGGGACTGTCGCTGCTTCGTGGGATACAGTCTTCTTACTTGGAACTGAAGGGGGCGGCCTATGACTTGGGCACCCCCAGCCTGGGCCTATGGAGAGCCCTGGGACCGCTACACCACTCTGGCAGCCACACTTCTCAGGACACAGGCCTGTGTAGCTGTGACCTGCTGAGCTCTGAGAGGCCCTGGATCAGCGTGGCCTTGTTCTGTCACCAATGTACCCACCGGGCCACTCCTTCCTGCCCCAACTCCTTCCAGCTAGTGACCCACATGCCATTTGTACTGACCCCATCACCTACTCACACAGGCATTTCCTGGGTGGCTACTCTGTGCCAGAGCCTGGGGCTCTAACGCCTGAGCCCAGGGAGGCCGAAGCTAACAGGGAAGGCAGGCAGGGCTCTCCTGGCTTCCCATCCCCAGCGATTCCCTCTCCCAGGCCCCATGACCTCCAGCTTTCCTGTATTTGTTCCCAAGAGCATCATGCCTCTGAGGCCAGCCTGGCCTCCTGCCTCTACTGGGAAGGCTACTTCGGGGCTGGGAAGTCGTCCTTACTCCTGTGGGAGCCTCGCAACCCGTGCCAAGTCCAGGTCCTGGTGGGGCAGCTCCTCTGTCTCGAGCGCCCTGCAGACCCTGCCCTTGTTTGGGGCAGGAGTAGCTGAGCTCACAAGGCAGCAAGGCCCGAGCAGCTGAGCAGGGCCGGGGAACTGGCCAAGCTGAGGTGCCCAGGAGAAGAAAGAGGTGACCCCAGGGCACAGGAGCTACCTGTGTGGACAGGACTAACACTCAGAAGCCTGGGGGCCTGGCTGGCTGAGGGCAGTTCGCAGCCACCCTGAGGAGTCTGAGGTCCTGAGCACTGCCAGGAGGGACAAAGGAGCCTGTGAACCCAGGACAAGCATGGTCCCACATCCCTGGGCCTGCTGCTGAGAACCTGGCCTTCAGTGTACCGCGTCTACCCTGGGATTCAGGAAAAGGCCTGGGGTGACCCGGCACCCCCTGCAGCTTGTAGCCAGCCGGGGCGAGTGGCACGTTTATTTAACTTTTAGTAAAGTCAAGGAGAAATGCGGTGGAAACTTCTTGCTTGTCCACAAATCATTCAGATGGGGTTTGGGCAGGTAGCGGGAGGCTGGGGCAGGCCAGAGGCCTGCGAAGAGGAGACAGGCTCCAGCACCCACGCTCTCACACCCCACATCTCTGCTTTTCTTGCTCTGCTGAGACTCTAATGACAAAGCCAGATTTCATCTTAACCTCAAGCTTCTACTTTTTAAAAAAATTTTGTTTTGGAGACAGGGTCTCACTGTCACCCAGGCTGGACTGCAGTGGCATTATACAGCTCACTGCAGCCTTGAACTCCTGGACTAAAGGGATCCTCCCACCTCAGCCTCACAAGCAGCCTCACAGGCGCTCACTACCATGCCCAACTAATTTTTGTATTCTTTTTTTTATAGAGACGAGGTTTCACCATGTTGCCTAGGCTGGTCTGGAACTCGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATCCCTGGCCATGAGCTTCTACTTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTGAGATAGGGTCTTGCTCCATTGCTTAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTGCACCTCCTGGGTT
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Task1_train_18874
|
A mutation on Chromosome 12 affecting KDM2B (lysine demethylase 2B) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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ACTGAGTGTGCCTGCGTCTCCTGCCCCCCCCTTCTACCTCCTCCATCTCTTCTGCCTCTGCCACCTCTGAGACAGCAAGACCAACCCCTCCTCCTCTGCCTACACAATGTGAAGATGATGAGCATGAAGACCTTTATGATGATCCACTTCCACTTAATGAATGATAAATATATTTTCCTTATGATCTTCTTAATATTTTCTTTTCTCTAGCTTATTTTATTGTGAGAATACAGTATATAATACATATAAGATATGTGTTAATGGACTGTTTTTGTTACTGGTAAGGCTTCTGGTCAACAATAGGGCTAACAGTAGTTAAGTTTTAGGGGAGTCAAAAGTTACATGCAGATTTTCAACTGCACAGAGGTCAGATGGTGCCCCAACCCTTGTGTTGTTCAAGGGTCAATTGTATATCCAGAAGAATTCAAAACATGATCTCAAAGAGATATCTGCACACCCATATTCACTGCAGCACTATTCACAACAGGCAAGAGGTGAAAGCAATCCATATGTCCATCAACAGATGAATGGATAAAGAAAAGTTGAGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTCTTGGAGGCCGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAGCCCCGTCTGTACTAAAAATATAAAAATTAGCCAGATGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGGGGTTGTTGTAAGCCAAGATTCCACTGCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAGAAAAAAAAAAGAAAATTTGGTACAAATACACTTTCAGTATTAATCGGCCATAAAAAAAAAGGAAATTGTCATATGCTTCAACATGGATGAACCCTGAGGACTTTATGCTCAGGGCTATAAACAAGCCAATCCAATCACAGAAAGCCAATTACTGCATAATTCCACTTCTATGAGGTCCCGAGAGGAGTCAAGCTCTTAGAAACTGAAAGTGGAATGGTGGTTGCCCGGGCTGAGGGAGGGGAAAGGGGAGTAGAGCTTCAGTGGGTATGGAGTTTCAGTTTTGCAAAATGAAAAAGTTCTAGGGATCAGCTTCCCAAAAACGTGCATATGGTAATACTACTGTACTGCATACTTAAAAATGATTAATGTATTTTTTTTACCACAATTTCAAAAAACAAAACACAAGAAATATGCGTGGAAGGAGATGGCTGAGGTGTCTGGGCCTGCGGGGCATCGACAGCCAAGGAGGAAGGGCTCACCCTATGCCAGGCTGGGCCTGCAGATGAGCGCACCAGGGCCGAGGAATCCCGTCCCTCCAGCCGAGCCTGCTTTTCCACGGGGACTGGGAGATGACTCCTCCACAGGGAGGACCGCCGGCCCCCGGGGAGCAGCGCCCTGAGGAAGGCAGAGCATGTGGGTGTGTACAAGGGAATTCAAGGGCAAACCCCGCGACCTCGCCCCGTTGCGAAGTCCATGTCCACTGCCCTGTCTGGGGACGAGACCAGCGGCGCGGGGCCACTGCCGGAGCTGAGGCCAGGCGGTGTGGAGGGGCGGGCCAGGCTCTCCCGGGCGCGGCTCCTCAGTACCATAAATCACTCCTTGTTGGGGGCAGCCCCCTGAGATGGGGCGCTGACCTTCCACCCAGACTTCTGACTCTGAAGGCAGGGCCGGAAGGAAGGAAGGAAGGGCCCAGAACCGTCACCCAGAACCGTAATGTTGGCAACGGGGTCACAGACAGGACAGGCTGCCTGTCATCTTTAATGGCAGCAACTTCAAAGTACCTGAGCACCCTGGGAGGGAAGGAGCAGGAGGCCTGAGCCTGCGAAGCGGCCAGCGCCTTCCCGTCCACAGGAAGAGCTCTCGGGGAGTCCACAGCCCCGGCTTCTCTGTGTGCGGAGGGGCGGCCAGAGCGAGCAGCGGTCAGACACGCGGGCCGGCACGCAGGGGCCTGAATCGAGCGCAGGGCTGGGCGGGGGCCGCACTCACCGCGATGCACTGCCGCATGATGCAGCTCTGCTTCATGCGCCCGGGGCCCCCGAACTTCTTCATGTCCTTGCAGAAGTGGCACTCTCCGCACTCGGTCCGCAGGCAGGCCTCGCACTTGCGGCATCGCGTCCGGCGCCGCCGAGCTCCTGCCGTTGTCCGGTTGGCGGCCAACTTCACCGCGGAGGCCGGGCCCAGCTTCCCCTTGGGCCGACCCACAGCCCGGTTCTGCAGGGGAACAGACACGACTGGTCAGATGGGGAGACTGCAGGCACGGCCAGACCCCCGGAAAGGGTGTTAGGGAGCAAACTGTGTACCCCCAGAAAGACACGATGGGGGCTCTAAACCCCATTCCTCAGAGTGTGATCTTTATTTGGAGATGGGGGCTTTGCAGAGACCGTCAGGTTAAACGAGGTAATTCAGGTGAACGCTAATCCAGTATGACTGGTGTCCTTACGAAAGGGGAACTTTTGGACACAGAGACAGACACGCACGTAGAGAACGTGTGTGAAGACACAGGCCTTCCACAGACTGGAGCCCTGTCTACAAGCCAAGAAGTGCCAAGGATGGCAGCACATACCAGGAGCTGGAGGCGCGGGGAAGGACCCTCCCCTAGAGCCCGCAGAGCCAGCCCGGCCCGCCAGCCCACACCTTGACTTCAGACTCCTGGCCTCCAGAACCGGGAGAGAAGAAAGGCCGGTTGTTTTAAGCCACCCGTTATGGCAGCCCTAGGAGAGGACGACAGAGGGCGCGTGCTTCTTGCCGCAGCACACAGCTCGAGACCTTCCATGGCTGCACCCACAGGCTCGGACCCTGCCCACCTTTCCCACCTCCGTCTGCTCCCCAAGAAAGACCGCAAGGGGCCACACAATCGGTCTCTGTTCCCCCAGCCCGGAAGGCCAACCCCACCCCCGCCCAAGCCACTTGGCTGATGCCCACTCATTCCGTCTGGTCAGTTTACAGGCTGCTTTCTTCTGGAAGCCCCTACTGCCCACCTGCACTGGGTTCAGGGCCCCTCTGGGAGATCCTGTTAGAGCGCTCATGATGGTAATCATCTGTTCCTTCCCTTTGAGACGGGGCACAGGAGGGCACTCACCACAGGTGTCTTGTGCACCACTGCACCTCTCTACGAGCCAGCCTGGCATGCAGAATGCACTCAACAAACCAGAGCCACCCCAGGGAGGATGGGATAGTAACCTTTAGGTCCCTGACTACTCAGATCTTCCCTAGATGGGCTCCAAATGCTCCCTTCCCTGGGACTCACAGAAGAGAGAGACAGTAGGTGGACAGAGAGCTGGGCTAGTAGCTAAGCCAGGAAAATGGGACAGCCACAGCCCCTGCCCTCTGGTTCCCAGCCCCAGAGCCTCCTGCAGACCCATGATCTACGGGGGAGCCCTAAGCTAGCTGCTGAGGACACTGTCCACAGAGGTCCCCTGTCCACCTGGGACCTGTAGTGGGAGGGACCAGGATGGGAGAGCTTTTCTTGTCTGTGGCATCTTTCTGGAGAGCCTGGGGTGGCTGAGAAATGGTGAAGTCCCTGTCAGGGAGACACGTGGTCACCCTGGAAACCAGCTGACCTAACGGCATCTAACGCCTAAAGCCCCTTTTCAGCTAACTGAACACCCTTTGGTCCAGAGTCCCACCCTCTTCATTTCAGTGACTTGTCATACTTGAATCCCCAAACAAAACCCCATACTTTTGGGAGCACACAGACCCAGAAGAGCTGTTACTATTCATACACTCCAATGGAGAAGAAGGTCCACATCACAGGGACCCCCTCTCACAACACACACAACTCCCTGCACCCTAGGGGCTTCCTAGAAACTTCCAACTGCATAGGAAGAAAAACAGCCCCCCTTTCTCCTCAAATACAGCCTCGCCACCATCAACTTTCTTCTCCAGTGCAGTGGTCCCTGTAGAAAGCCCGCAGCCTCACGTGCCACCCACTTTGCTGTCAACACCTAAGCAGACCCCTCCCTCCGATTCACCTTCCCACAGCATTCAAGGAGCTTCCAGGCCCCCATCAGCCCGAGTGGCCCCTCAGGAAGCACTGGAGCTCTGGGC
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ACTGAGTGTGCCTGCGTCTCCTGCCCCCCCCTTCTACCTCCTCCATCTCTTCTGCCTCTGCCACCTCTGAGACAGCAAGACCAACCCCTCCTCCTCTGCCTACACAATGTGAAGATGATGAGCATGAAGACCTTTATGATGATCCACTTCCACTTAATGAATGATAAATATATTTTCCTTATGATCTTCTTAATATTTTCTTTTCTCTAGCTTATTTTATTGTGAGAATACAGTATATAATACATATAAGATATGTGTTAATGGACTGTTTTTGTTACTGGTAAGGCTTCTGGTCAACAATAGGGCTAACAGTAGTTAAGTTTTAGGGGAGTCAAAAGTTACATGCAGATTTTCAACTGCACAGAGGTCAGATGGTGCCCCAACCCTTGTGTTGTTCAAGGGTCAATTGTATATCCAGAAGAATTCAAAACATGATCTCAAAGAGATATCTGCACACCCATATTCACTGCAGCACTATTCACAACAGGCAAGAGGTGAAAGCAATCCATATGTCCATCAACAGATGAATGGATAAAGAAAAGTTGAGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTCTTGGAGGCCGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAGCCCCGTCTGTACTAAAAATATAAAAATTAGCCAGATGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGGGGTTGTTGTAAGCCAAGATTCCACTGCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAGAAAAAAAAAAGAAAATTTGGTACAAATACACTTTCAGTATTAATCGGCCATAAAAAAAAAGGAAATTGTCATATGCTTCAACATGGATGAACCCTGAGGACTTTATGCTCAGGGCTATAAACAAGCCAATCCAATCACAGAAAGCCAATTACTGCATAATTCCACTTCTATGAGGTCCCGAGAGGAGTCAAGCTCTTAGAAACTGAAAGTGGAATGGTGGTTGCCCGGGCTGAGGGAGGGGAAAGGGGAGTAGAGCTTCAGTGGGTATGGAGTTTCAGTTTTGCAAAATGAAAAAGTTCTAGGGATCAGCTTCCCAAAAACGTGCATATGGTAATACTACTGTACTGCATACTTAAAAATGATTAATGTATTTTTTTTACCACAATTTCAAAAAACAAAACACAAGAAATATGCGTGGAAGGAGATGGCTGAGGTGTCTGGGCCTGCGGGGCATCGACAGCCAAGGAGGAAGGGCTCACCCTATGCCAGGCTGGGCCTGCAGATGAGCGCACCAGGGCCGAGGAATCCCGTCCCTCCAGCCGAGCCTGCTTTTCCACGGGGACTGGGAGATGACTCCTCCACAGGGAGGACCGCCGGCCCCCGGGGAGCAGCGCCCTGAGGAAGGCAGAGCATGTGGGTGTGTACAAGGGAATTCAAGGGCAAACCCCGCGACCTCGCCCCGTTGCGAAGTCCATGTCCACTGCCCTGTCTGGGGACGAGACCAGCGGCGCGGGGCCACTGCCGGAGCTGAGGCCAGGCGGTGTGGAGGGGCGGGCCAGGCTCTCCCGGGCGCGGCTCCTCAGTACCATAAATCACTCCTTGTTGGGGGCAGCCCCCTGAGATGGGGCGCTGACCTTCCACCCAGACTTCTGACTCTGAAGGCAGGGCCGGAAGGAAGGAAGGAAGGGCCCAGAACCGTCACCCAGAACCGTAATGTTGGCAACGGGGTCACAGACAGGACAGGCTGCCTGTCATCTTTAATGGCAGCAACTTCAAAGTACCTGAGCACCCTGGGAGGGAAGGAGCAGGAGGCCTGAGCCTGCGAAGCGGCCAGCGCCTTCCCGTCCACAGGAAGAGCTCTCGGGGAGTCCACAGCCCCGGCTTCTCTGTGTGCGGAGGGGCGGCCAGAGCGAGCAGCGGTCAGACACGCGGGCCGGCACGCAGGGGCCTGAATCGAGCGCAGGGCTGGGCGGGGGCCGCACTCACCGCGATGCACTGCTGCATGATGCAGCTCTGCTTCATGCGCCCGGGGCCCCCGAACTTCTTCATGTCCTTGCAGAAGTGGCACTCTCCGCACTCGGTCCGCAGGCAGGCCTCGCACTTGCGGCATCGCGTCCGGCGCCGCCGAGCTCCTGCCGTTGTCCGGTTGGCGGCCAACTTCACCGCGGAGGCCGGGCCCAGCTTCCCCTTGGGCCGACCCACAGCCCGGTTCTGCAGGGGAACAGACACGACTGGTCAGATGGGGAGACTGCAGGCACGGCCAGACCCCCGGAAAGGGTGTTAGGGAGCAAACTGTGTACCCCCAGAAAGACACGATGGGGGCTCTAAACCCCATTCCTCAGAGTGTGATCTTTATTTGGAGATGGGGGCTTTGCAGAGACCGTCAGGTTAAACGAGGTAATTCAGGTGAACGCTAATCCAGTATGACTGGTGTCCTTACGAAAGGGGAACTTTTGGACACAGAGACAGACACGCACGTAGAGAACGTGTGTGAAGACACAGGCCTTCCACAGACTGGAGCCCTGTCTACAAGCCAAGAAGTGCCAAGGATGGCAGCACATACCAGGAGCTGGAGGCGCGGGGAAGGACCCTCCCCTAGAGCCCGCAGAGCCAGCCCGGCCCGCCAGCCCACACCTTGACTTCAGACTCCTGGCCTCCAGAACCGGGAGAGAAGAAAGGCCGGTTGTTTTAAGCCACCCGTTATGGCAGCCCTAGGAGAGGACGACAGAGGGCGCGTGCTTCTTGCCGCAGCACACAGCTCGAGACCTTCCATGGCTGCACCCACAGGCTCGGACCCTGCCCACCTTTCCCACCTCCGTCTGCTCCCCAAGAAAGACCGCAAGGGGCCACACAATCGGTCTCTGTTCCCCCAGCCCGGAAGGCCAACCCCACCCCCGCCCAAGCCACTTGGCTGATGCCCACTCATTCCGTCTGGTCAGTTTACAGGCTGCTTTCTTCTGGAAGCCCCTACTGCCCACCTGCACTGGGTTCAGGGCCCCTCTGGGAGATCCTGTTAGAGCGCTCATGATGGTAATCATCTGTTCCTTCCCTTTGAGACGGGGCACAGGAGGGCACTCACCACAGGTGTCTTGTGCACCACTGCACCTCTCTACGAGCCAGCCTGGCATGCAGAATGCACTCAACAAACCAGAGCCACCCCAGGGAGGATGGGATAGTAACCTTTAGGTCCCTGACTACTCAGATCTTCCCTAGATGGGCTCCAAATGCTCCCTTCCCTGGGACTCACAGAAGAGAGAGACAGTAGGTGGACAGAGAGCTGGGCTAGTAGCTAAGCCAGGAAAATGGGACAGCCACAGCCCCTGCCCTCTGGTTCCCAGCCCCAGAGCCTCCTGCAGACCCATGATCTACGGGGGAGCCCTAAGCTAGCTGCTGAGGACACTGTCCACAGAGGTCCCCTGTCCACCTGGGACCTGTAGTGGGAGGGACCAGGATGGGAGAGCTTTTCTTGTCTGTGGCATCTTTCTGGAGAGCCTGGGGTGGCTGAGAAATGGTGAAGTCCCTGTCAGGGAGACACGTGGTCACCCTGGAAACCAGCTGACCTAACGGCATCTAACGCCTAAAGCCCCTTTTCAGCTAACTGAACACCCTTTGGTCCAGAGTCCCACCCTCTTCATTTCAGTGACTTGTCATACTTGAATCCCCAAACAAAACCCCATACTTTTGGGAGCACACAGACCCAGAAGAGCTGTTACTATTCATACACTCCAATGGAGAAGAAGGTCCACATCACAGGGACCCCCTCTCACAACACACACAACTCCCTGCACCCTAGGGGCTTCCTAGAAACTTCCAACTGCATAGGAAGAAAAACAGCCCCCCTTTCTCCTCAAATACAGCCTCGCCACCATCAACTTTCTTCTCCAGTGCAGTGGTCCCTGTAGAAAGCCCGCAGCCTCACGTGCCACCCACTTTGCTGTCAACACCTAAGCAGACCCCTCCCTCCGATTCACCTTCCCACAGCATTCAAGGAGCTTCCAGGCCCCCATCAGCCCGAGTGGCCCCTCAGGAAGCACTGGAGCTCTGGGC
|
Task1_train_18875
|
A genetic alteration is present in LOC130008987, ORAI1 (ATAC-STARR-seq lymphoblastoid silent region 4981| ORAI calcium release-activated calcium modulator 1) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Combined immunodeficiency due to ORAI1 deficiency
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CCTCCTAGGAGACATTCCCTAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAGGAGTTCCAGGCTAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACGCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATACACACACACACACATATATATACATATATATGTGTATATATGTGTGTGTGTATATATATATATAAAATATTCAATGAAGGTTATCATTTTCCTGGAATCCCTCAGCGTAGCACGTAATAGTTGCTCAGAAGACACTTGCTGAATAGGTTTGAAGATTCACTGGTTTAAAAAATATCAGGTGGCCGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGCATGGTGGCGGGAGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGTAATAAAAAAATAATAAATCAGGAACCGGTCACCTCAATACGTATCAGATGCTGGTGAACACAGGTGGACAAAGTGGTTAACAGACAGGTTTTGTCCATCTCGTTCACCACCCTACCCAGCCTCAGCACCTAGACCAGTGTTGGCACCCAGTGGGCGCCAAATAAACACTGCTTGAACTCCAGACGTCAGCCGCTCTTTTTCCTACAGACCTTGAGCCACCTTGTTCCAAAGGGGATATGGGCCTCAGGAGGCGCCCAGAGGTGACCTCAGGCGGCCCGACCCAGGAGTCCAAGCTCCAGGAGCAGGGCCACGGGAGCAGCTGCGGAGAGGGGCGGCGCCAGGAGCCGGAGCGGGCAGCCGGGCGCTTCCAGGAAAAGTGGCGGGCGGCGGCGCGCCAGGGACCGTGGGCGGTGCCGTCGGAGCGGGCGGGTCACGTGACGCCCACAACAACGCCCACTTCTTGGTGGGCGGGGCACAGGTGGGCGGGGAGCATGCAAAACAGCCCAGGGCGGCGGCCAATCGCGGCGCGCGCCGGGGGTCCAGGCCCCGGGGATCCGAGGCGCCGCCCGCGCGCAGTCTCTGGTCACTGCCGCCCGGGGGCTTTTGCCAGCGGCGCCGCGGGCCTGCGTGCTGGGGCAGCGGGCACTTCTTCGACCTCGTCCTCCTCGTCCTGTGCGGCCGGCCGGGTGAGGCCGGGCCCGCGTAGGGGGCAGTCGGCGGCTGCCTCCGGCGGAGGTGCCTCGCGGCGCCCGGGCCGGCCCGCGCCTCGGCGGCGTGCTCCATGCATCCGGAGCCCGCCCCGCCCCCGAGCCGCAGCAGTCCCGAGCTTCCCCCAAGCGGCGGCAGCACCACCAGCGGCAGCCGCCGGAGCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCCCGCCACCGCCGCCGTCCGCCGTCACCTACCCGGACTGGATCGGCCAGAGTTACTCCGAGGTGATGAGCCTCAACGAGCACTCCATGCAGGCGCTGTCCTGGCGCAAGCTCTACTTGAGCCGCGCCAAGCTTAAAGCCTCCAGCCGGACCTCGGCTCTGCTCTCCGGCTTCGCCATGGTGAGCTCCGGCCGCCCTGCCCTGCCCCCTCTACTGTCCCGGCTGCTCCCGCCCGCAGCCCCGACGGGGCTCTCTGGGCGGGCCGGGCGGGCCAGAGTGAGGGGAAGAGCTGGGAGAAACCGTGGTGAGCGCTGCGCGGGGGGCAGAGGTGCTGGACGTGAGCACTGGTGGGCGCCGAGTACTCCGATCTGGGGTGGTGACAAGCCATATCAGAGTCCGGGCTCGGGGTGCTTGGGTGCCTCCACATGGCCATGCCTGCCCCAGCAAGAGTGGTAGATGCATCCCGAAGTTAGCTCTGTAAGAAGCCCGCCCCATGTGCGTTCAGGAGCGAAAGGAGGGACTCAGAAGCTCTAACCCAGCTGGGGGCGTCAGGAGGTGGGGACAAGGAGAAAGACCTTGCGCTGTCTTGTGCCCCGGCACCCGAGGCCGGAAGTTGTTAGCCGTGTTCTTTTATCAGCTCCTAGAGGGGATTTCCTGACACCCCTTTTCCACCGCATTTTCCGAGAGCCTCAGCCTGGGGGTTTGACAACCAGTCCCCCTCAGTTTTTTCTCCAGAAACTTGCCACTGAGTCACTGCGTGTGAGGGAGGAGGGAGGGACATGTTCCCGTTGAATGGGCTCTTTATTTTTTATTTGTTCCAAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGAAATTTCCACCTCCTGAGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCACGCCCGGCTAATTTTTGTGTTCTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGATCTTTAACTCTCGACCTCGTGATCTGCCAAATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCACACCCGGCCCAATGGGCTCTTTCTTGATCTAGGGCATAGGCATGCTTTCCTTTCCCCACCATCCCAAAGAGCTGGAGTGCAAAGCCTCTGAGGTGTGGGGTGGGTGAGGCTGCGGATGGGCCTGAGAAGTGGCTCTGGGGATACCCTCAGGCTTGGCATATTGAAGTTTCTCCGTTGCAGGGGACTACATAATAACTACATTATTACCACTCGGTGATATCAGCCTGCCATGAATGGACTCTGCTCCCCGCCCCTCAGTTCTGTAGACCAGAGCACTCCTGCCCCCGCCACCAGTGAGCTAAGCCCTTGGCCTTGAGGGAGGGAGTGGCTGCACCCTTCGTGTTTTCTTGGGAAGGGAGTGTGTCTGAAACTCTCCCTGCTTTGCCTTGCAGCAGAGCCTGAATTTTTTAAGGCCCAGAGCACGCTGGGCCACAGTGGAAAGGCCGGGAGATGGGGAGTGGGAAGCAGCCTTCCCTGCTCAGTTACTTGCTGCCTGTGTGACCTCAAGCAACTCACTCTCCCTGTCCGGGCCTCAATTCCTGAATTGATCAAAGAAGGCTGCTACTCAAAAGTTTCTCTGACTTTGAGAATAAAATTGAGGGAGCCCCTGAAAGGAGATCAGGGAGTGTGTTTGCATAAACAGACGGCACTCTCATTTTTAGTTTAGACAGGACGGACTTCTGCTCTGTTAATTTCAAATCCTAAGAGACCAGGTTCTGCCTGCTGCCTGAAGAATCTCTAAAAGCAGCTGGCATTTACTGAACACTCACTCAGTGCTAGGTGCCTTAACTCCTGGGCTTACTCAACAACCCTCTGTGGTGATTTTGTCAAAGGGCTCTCCCAAGACCGCACAGCCAGTCTGGTGGAGCGGGATTTGAACCCAGCTCTGCTGGTGTTCAGAACTTGCTCAGGCACTTGTACCCATTGCGGTGTATAGGAACTCTGATTGATGTCCAGCCAGGGATGTGTTAGGACACTAGGAAATGAGAAATAGGGCAAAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGACTCCT
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CCTCCTAGGAGACATTCCCTAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAGGAGTTCCAGGCTAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACGCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATACACACACACACACATATATATACATATATATGTGTATATATGTGTGTGTGTATATATATATATAAAATATTCAATGAAGGTTATCATTTTCCTGGAATCCCTCAGCGTAGCACGTAATAGTTGCTCAGAAGACACTTGCTGAATAGGTTTGAAGATTCACTGGTTTAAAAAATATCAGGTGGCCGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGCATGGTGGCGGGAGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGTAATAAAAAAATAATAAATCAGGAACCGGTCACCTCAATACGTATCAGATGCTGGTGAACACAGGTGGACAAAGTGGTTAACAGACAGGTTTTGTCCATCTCGTTCACCACCCTACCCAGCCTCAGCACCTAGACCAGTGTTGGCACCCAGTGGGCGCCAAATAAACACTGCTTGAACTCCAGACGTCAGCCGCTCTTTTTCCTACAGACCTTGAGCCACCTTGTTCCAAAGGGGATATGGGCCTCAGGAGGCGCCCAGAGGTGACCTCAGGCGGCCCGACCCAGGAGTCCAAGCTCCAGGAGCAGGGCCACGGGAGCAGCTGCGGAGAGGGGCGGCGCCAGGAGCCGGAGCGGGCAGCCGGGCGCTTCCAGGAAAAGTGGCGGGCGGCGGCGCGCCAGGGACCGTGGGCGGTGCCGTCGGAGCGGGCGGGTCACGTGACGCCCACAACAACGCCCACTTCTTGGTGGGCGGGGCACAGGTGGGCGGGGAGCATGCAAAACAGCCCAGGGCGGCGGCCAATCGCGGCGCGCGCCGGGGGTCCAGGCCCCGGGGATCCGAGGCGCCGCCCGCGCGCAGTCTCTGGTCACTGCCGCCCGGGGGCTTTTGCCAGCGGCGCCGCGGGCCTGCGTGCTGGGGCAGCGGGCACTTCTTCGACCTCGTCCTCCTCGTCCTGTGCGGCCGGCCGGGTGAGGCCGGGCCCGCGTAGGGGGCAGTCGGCGGCTGCCTCCGGCGGAGGTGCCTCGCGGCGCCCGGGCCGGCCCGCGCCTCGGCGGCGTGCTCCATGCATCCGGAGCCCGCCCCGCCCCCGAGCCGCAGCAGTCCCGAGCTTCCCCCAAGCGGCGGCAGCACCACCAGCGGCAGCCGCCGGAGCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCCCGCCACCGCCGCCGTCCGCCGTCACCTACCCGGACTGGATCGGCCAGAGTTACTCCGAGGTGATGAGCCTCAACGAGCACTCCATGCAGGCGCTGTCCTGGCGCAAGCTCTACTTGAGCCGCGCCAAGCTTAAAGCCTCCAGCTGGACCTCGGCTCTGCTCTCCGGCTTCGCCATGGTGAGCTCCGGCCGCCCTGCCCTGCCCCCTCTACTGTCCCGGCTGCTCCCGCCCGCAGCCCCGACGGGGCTCTCTGGGCGGGCCGGGCGGGCCAGAGTGAGGGGAAGAGCTGGGAGAAACCGTGGTGAGCGCTGCGCGGGGGGCAGAGGTGCTGGACGTGAGCACTGGTGGGCGCCGAGTACTCCGATCTGGGGTGGTGACAAGCCATATCAGAGTCCGGGCTCGGGGTGCTTGGGTGCCTCCACATGGCCATGCCTGCCCCAGCAAGAGTGGTAGATGCATCCCGAAGTTAGCTCTGTAAGAAGCCCGCCCCATGTGCGTTCAGGAGCGAAAGGAGGGACTCAGAAGCTCTAACCCAGCTGGGGGCGTCAGGAGGTGGGGACAAGGAGAAAGACCTTGCGCTGTCTTGTGCCCCGGCACCCGAGGCCGGAAGTTGTTAGCCGTGTTCTTTTATCAGCTCCTAGAGGGGATTTCCTGACACCCCTTTTCCACCGCATTTTCCGAGAGCCTCAGCCTGGGGGTTTGACAACCAGTCCCCCTCAGTTTTTTCTCCAGAAACTTGCCACTGAGTCACTGCGTGTGAGGGAGGAGGGAGGGACATGTTCCCGTTGAATGGGCTCTTTATTTTTTATTTGTTCCAAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGAAATTTCCACCTCCTGAGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCACGCCCGGCTAATTTTTGTGTTCTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGATCTTTAACTCTCGACCTCGTGATCTGCCAAATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCACACCCGGCCCAATGGGCTCTTTCTTGATCTAGGGCATAGGCATGCTTTCCTTTCCCCACCATCCCAAAGAGCTGGAGTGCAAAGCCTCTGAGGTGTGGGGTGGGTGAGGCTGCGGATGGGCCTGAGAAGTGGCTCTGGGGATACCCTCAGGCTTGGCATATTGAAGTTTCTCCGTTGCAGGGGACTACATAATAACTACATTATTACCACTCGGTGATATCAGCCTGCCATGAATGGACTCTGCTCCCCGCCCCTCAGTTCTGTAGACCAGAGCACTCCTGCCCCCGCCACCAGTGAGCTAAGCCCTTGGCCTTGAGGGAGGGAGTGGCTGCACCCTTCGTGTTTTCTTGGGAAGGGAGTGTGTCTGAAACTCTCCCTGCTTTGCCTTGCAGCAGAGCCTGAATTTTTTAAGGCCCAGAGCACGCTGGGCCACAGTGGAAAGGCCGGGAGATGGGGAGTGGGAAGCAGCCTTCCCTGCTCAGTTACTTGCTGCCTGTGTGACCTCAAGCAACTCACTCTCCCTGTCCGGGCCTCAATTCCTGAATTGATCAAAGAAGGCTGCTACTCAAAAGTTTCTCTGACTTTGAGAATAAAATTGAGGGAGCCCCTGAAAGGAGATCAGGGAGTGTGTTTGCATAAACAGACGGCACTCTCATTTTTAGTTTAGACAGGACGGACTTCTGCTCTGTTAATTTCAAATCCTAAGAGACCAGGTTCTGCCTGCTGCCTGAAGAATCTCTAAAAGCAGCTGGCATTTACTGAACACTCACTCAGTGCTAGGTGCCTTAACTCCTGGGCTTACTCAACAACCCTCTGTGGTGATTTTGTCAAAGGGCTCTCCCAAGACCGCACAGCCAGTCTGGTGGAGCGGGATTTGAACCCAGCTCTGCTGGTGTTCAGAACTTGCTCAGGCACTTGTACCCATTGCGGTGTATAGGAACTCTGATTGATGTCCAGCCAGGGATGTGTTAGGACACTAGGAAATGAGAAATAGGGCAAAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGACTCCT
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Task1_train_18876
|
An alteration has been detected in LOC130008987, ORAI1 (ATAC-STARR-seq lymphoblastoid silent region 4981| ORAI calcium release-activated calcium modulator 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Myopathy, tubular aggregate, 2
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TAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAGGAGTTCCAGGCTAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACGCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATACACACACACACACATATATATACATATATATGTGTATATATGTGTGTGTGTATATATATATATAAAATATTCAATGAAGGTTATCATTTTCCTGGAATCCCTCAGCGTAGCACGTAATAGTTGCTCAGAAGACACTTGCTGAATAGGTTTGAAGATTCACTGGTTTAAAAAATATCAGGTGGCCGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGCATGGTGGCGGGAGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGTAATAAAAAAATAATAAATCAGGAACCGGTCACCTCAATACGTATCAGATGCTGGTGAACACAGGTGGACAAAGTGGTTAACAGACAGGTTTTGTCCATCTCGTTCACCACCCTACCCAGCCTCAGCACCTAGACCAGTGTTGGCACCCAGTGGGCGCCAAATAAACACTGCTTGAACTCCAGACGTCAGCCGCTCTTTTTCCTACAGACCTTGAGCCACCTTGTTCCAAAGGGGATATGGGCCTCAGGAGGCGCCCAGAGGTGACCTCAGGCGGCCCGACCCAGGAGTCCAAGCTCCAGGAGCAGGGCCACGGGAGCAGCTGCGGAGAGGGGCGGCGCCAGGAGCCGGAGCGGGCAGCCGGGCGCTTCCAGGAAAAGTGGCGGGCGGCGGCGCGCCAGGGACCGTGGGCGGTGCCGTCGGAGCGGGCGGGTCACGTGACGCCCACAACAACGCCCACTTCTTGGTGGGCGGGGCACAGGTGGGCGGGGAGCATGCAAAACAGCCCAGGGCGGCGGCCAATCGCGGCGCGCGCCGGGGGTCCAGGCCCCGGGGATCCGAGGCGCCGCCCGCGCGCAGTCTCTGGTCACTGCCGCCCGGGGGCTTTTGCCAGCGGCGCCGCGGGCCTGCGTGCTGGGGCAGCGGGCACTTCTTCGACCTCGTCCTCCTCGTCCTGTGCGGCCGGCCGGGTGAGGCCGGGCCCGCGTAGGGGGCAGTCGGCGGCTGCCTCCGGCGGAGGTGCCTCGCGGCGCCCGGGCCGGCCCGCGCCTCGGCGGCGTGCTCCATGCATCCGGAGCCCGCCCCGCCCCCGAGCCGCAGCAGTCCCGAGCTTCCCCCAAGCGGCGGCAGCACCACCAGCGGCAGCCGCCGGAGCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCCCGCCACCGCCGCCGTCCGCCGTCACCTACCCGGACTGGATCGGCCAGAGTTACTCCGAGGTGATGAGCCTCAACGAGCACTCCATGCAGGCGCTGTCCTGGCGCAAGCTCTACTTGAGCCGCGCCAAGCTTAAAGCCTCCAGCCGGACCTCGGCTCTGCTCTCCGGCTTCGCCATGGTGAGCTCCGGCCGCCCTGCCCTGCCCCCTCTACTGTCCCGGCTGCTCCCGCCCGCAGCCCCGACGGGGCTCTCTGGGCGGGCCGGGCGGGCCAGAGTGAGGGGAAGAGCTGGGAGAAACCGTGGTGAGCGCTGCGCGGGGGGCAGAGGTGCTGGACGTGAGCACTGGTGGGCGCCGAGTACTCCGATCTGGGGTGGTGACAAGCCATATCAGAGTCCGGGCTCGGGGTGCTTGGGTGCCTCCACATGGCCATGCCTGCCCCAGCAAGAGTGGTAGATGCATCCCGAAGTTAGCTCTGTAAGAAGCCCGCCCCATGTGCGTTCAGGAGCGAAAGGAGGGACTCAGAAGCTCTAACCCAGCTGGGGGCGTCAGGAGGTGGGGACAAGGAGAAAGACCTTGCGCTGTCTTGTGCCCCGGCACCCGAGGCCGGAAGTTGTTAGCCGTGTTCTTTTATCAGCTCCTAGAGGGGATTTCCTGACACCCCTTTTCCACCGCATTTTCCGAGAGCCTCAGCCTGGGGGTTTGACAACCAGTCCCCCTCAGTTTTTTCTCCAGAAACTTGCCACTGAGTCACTGCGTGTGAGGGAGGAGGGAGGGACATGTTCCCGTTGAATGGGCTCTTTATTTTTTATTTGTTCCAAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGAAATTTCCACCTCCTGAGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCACGCCCGGCTAATTTTTGTGTTCTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGATCTTTAACTCTCGACCTCGTGATCTGCCAAATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCACACCCGGCCCAATGGGCTCTTTCTTGATCTAGGGCATAGGCATGCTTTCCTTTCCCCACCATCCCAAAGAGCTGGAGTGCAAAGCCTCTGAGGTGTGGGGTGGGTGAGGCTGCGGATGGGCCTGAGAAGTGGCTCTGGGGATACCCTCAGGCTTGGCATATTGAAGTTTCTCCGTTGCAGGGGACTACATAATAACTACATTATTACCACTCGGTGATATCAGCCTGCCATGAATGGACTCTGCTCCCCGCCCCTCAGTTCTGTAGACCAGAGCACTCCTGCCCCCGCCACCAGTGAGCTAAGCCCTTGGCCTTGAGGGAGGGAGTGGCTGCACCCTTCGTGTTTTCTTGGGAAGGGAGTGTGTCTGAAACTCTCCCTGCTTTGCCTTGCAGCAGAGCCTGAATTTTTTAAGGCCCAGAGCACGCTGGGCCACAGTGGAAAGGCCGGGAGATGGGGAGTGGGAAGCAGCCTTCCCTGCTCAGTTACTTGCTGCCTGTGTGACCTCAAGCAACTCACTCTCCCTGTCCGGGCCTCAATTCCTGAATTGATCAAAGAAGGCTGCTACTCAAAAGTTTCTCTGACTTTGAGAATAAAATTGAGGGAGCCCCTGAAAGGAGATCAGGGAGTGTGTTTGCATAAACAGACGGCACTCTCATTTTTAGTTTAGACAGGACGGACTTCTGCTCTGTTAATTTCAAATCCTAAGAGACCAGGTTCTGCCTGCTGCCTGAAGAATCTCTAAAAGCAGCTGGCATTTACTGAACACTCACTCAGTGCTAGGTGCCTTAACTCCTGGGCTTACTCAACAACCCTCTGTGGTGATTTTGTCAAAGGGCTCTCCCAAGACCGCACAGCCAGTCTGGTGGAGCGGGATTTGAACCCAGCTCTGCTGGTGTTCAGAACTTGCTCAGGCACTTGTACCCATTGCGGTGTATAGGAACTCTGATTGATGTCCAGCCAGGGATGTGTTAGGACACTAGGAAATGAGAAATAGGGCAAAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGACTCCTGGGTTCACGCCATTCTGCT
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TAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAGGAGTTCCAGGCTAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACGCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATACACACACACACACATATATATACATATATATGTGTATATATGTGTGTGTGTATATATATATATAAAATATTCAATGAAGGTTATCATTTTCCTGGAATCCCTCAGCGTAGCACGTAATAGTTGCTCAGAAGACACTTGCTGAATAGGTTTGAAGATTCACTGGTTTAAAAAATATCAGGTGGCCGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGCATGGTGGCGGGAGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGTAATAAAAAAATAATAAATCAGGAACCGGTCACCTCAATACGTATCAGATGCTGGTGAACACAGGTGGACAAAGTGGTTAACAGACAGGTTTTGTCCATCTCGTTCACCACCCTACCCAGCCTCAGCACCTAGACCAGTGTTGGCACCCAGTGGGCGCCAAATAAACACTGCTTGAACTCCAGACGTCAGCCGCTCTTTTTCCTACAGACCTTGAGCCACCTTGTTCCAAAGGGGATATGGGCCTCAGGAGGCGCCCAGAGGTGACCTCAGGCGGCCCGACCCAGGAGTCCAAGCTCCAGGAGCAGGGCCACGGGAGCAGCTGCGGAGAGGGGCGGCGCCAGGAGCCGGAGCGGGCAGCCGGGCGCTTCCAGGAAAAGTGGCGGGCGGCGGCGCGCCAGGGACCGTGGGCGGTGCCGTCGGAGCGGGCGGGTCACGTGACGCCCACAACAACGCCCACTTCTTGGTGGGCGGGGCACAGGTGGGCGGGGAGCATGCAAAACAGCCCAGGGCGGCGGCCAATCGCGGCGCGCGCCGGGGGTCCAGGCCCCGGGGATCCGAGGCGCCGCCCGCGCGCAGTCTCTGGTCACTGCCGCCCGGGGGCTTTTGCCAGCGGCGCCGCGGGCCTGCGTGCTGGGGCAGCGGGCACTTCTTCGACCTCGTCCTCCTCGTCCTGTGCGGCCGGCCGGGTGAGGCCGGGCCCGCGTAGGGGGCAGTCGGCGGCTGCCTCCGGCGGAGGTGCCTCGCGGCGCCCGGGCCGGCCCGCGCCTCGGCGGCGTGCTCCATGCATCCGGAGCCCGCCCCGCCCCCGAGCCGCAGCAGTCCCGAGCTTCCCCCAAGCGGCGGCAGCACCACCAGCGGCAGCCGCCGGAGCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCCCGCCACCGCCGCCGTCCGCCGTCACCTACCCGGACTGGATCGGCCAGAGTTACTCCGAGGTGATGAGCCTCAACGAGCACTCCATGCAGGCGCTGTCCTGGCGCAAGCTCTACTTGAGCCGCGCCAAGCTTAAAGCCTCCAGCCGGACCTCGGCTCTGCTCTGCGGCTTCGCCATGGTGAGCTCCGGCCGCCCTGCCCTGCCCCCTCTACTGTCCCGGCTGCTCCCGCCCGCAGCCCCGACGGGGCTCTCTGGGCGGGCCGGGCGGGCCAGAGTGAGGGGAAGAGCTGGGAGAAACCGTGGTGAGCGCTGCGCGGGGGGCAGAGGTGCTGGACGTGAGCACTGGTGGGCGCCGAGTACTCCGATCTGGGGTGGTGACAAGCCATATCAGAGTCCGGGCTCGGGGTGCTTGGGTGCCTCCACATGGCCATGCCTGCCCCAGCAAGAGTGGTAGATGCATCCCGAAGTTAGCTCTGTAAGAAGCCCGCCCCATGTGCGTTCAGGAGCGAAAGGAGGGACTCAGAAGCTCTAACCCAGCTGGGGGCGTCAGGAGGTGGGGACAAGGAGAAAGACCTTGCGCTGTCTTGTGCCCCGGCACCCGAGGCCGGAAGTTGTTAGCCGTGTTCTTTTATCAGCTCCTAGAGGGGATTTCCTGACACCCCTTTTCCACCGCATTTTCCGAGAGCCTCAGCCTGGGGGTTTGACAACCAGTCCCCCTCAGTTTTTTCTCCAGAAACTTGCCACTGAGTCACTGCGTGTGAGGGAGGAGGGAGGGACATGTTCCCGTTGAATGGGCTCTTTATTTTTTATTTGTTCCAAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGAAATTTCCACCTCCTGAGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCACGCCCGGCTAATTTTTGTGTTCTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGATCTTTAACTCTCGACCTCGTGATCTGCCAAATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCACACCCGGCCCAATGGGCTCTTTCTTGATCTAGGGCATAGGCATGCTTTCCTTTCCCCACCATCCCAAAGAGCTGGAGTGCAAAGCCTCTGAGGTGTGGGGTGGGTGAGGCTGCGGATGGGCCTGAGAAGTGGCTCTGGGGATACCCTCAGGCTTGGCATATTGAAGTTTCTCCGTTGCAGGGGACTACATAATAACTACATTATTACCACTCGGTGATATCAGCCTGCCATGAATGGACTCTGCTCCCCGCCCCTCAGTTCTGTAGACCAGAGCACTCCTGCCCCCGCCACCAGTGAGCTAAGCCCTTGGCCTTGAGGGAGGGAGTGGCTGCACCCTTCGTGTTTTCTTGGGAAGGGAGTGTGTCTGAAACTCTCCCTGCTTTGCCTTGCAGCAGAGCCTGAATTTTTTAAGGCCCAGAGCACGCTGGGCCACAGTGGAAAGGCCGGGAGATGGGGAGTGGGAAGCAGCCTTCCCTGCTCAGTTACTTGCTGCCTGTGTGACCTCAAGCAACTCACTCTCCCTGTCCGGGCCTCAATTCCTGAATTGATCAAAGAAGGCTGCTACTCAAAAGTTTCTCTGACTTTGAGAATAAAATTGAGGGAGCCCCTGAAAGGAGATCAGGGAGTGTGTTTGCATAAACAGACGGCACTCTCATTTTTAGTTTAGACAGGACGGACTTCTGCTCTGTTAATTTCAAATCCTAAGAGACCAGGTTCTGCCTGCTGCCTGAAGAATCTCTAAAAGCAGCTGGCATTTACTGAACACTCACTCAGTGCTAGGTGCCTTAACTCCTGGGCTTACTCAACAACCCTCTGTGGTGATTTTGTCAAAGGGCTCTCCCAAGACCGCACAGCCAGTCTGGTGGAGCGGGATTTGAACCCAGCTCTGCTGGTGTTCAGAACTTGCTCAGGCACTTGTACCCATTGCGGTGTATAGGAACTCTGATTGATGTCCAGCCAGGGATGTGTTAGGACACTAGGAAATGAGAAATAGGGCAAAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGACTCCTGGGTTCACGCCATTCTGCT
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Task1_train_18877
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This genomic variant is located on Chromosome 12, within the LOC130008987, ORAI1 (ATAC-STARR-seq lymphoblastoid silent region 4981| ORAI calcium release-activated calcium modulator 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Myopathy with tubular aggregates
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GCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAGGAGTTCCAGGCTAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACGCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATACACACACACACACATATATATACATATATATGTGTATATATGTGTGTGTGTATATATATATATAAAATATTCAATGAAGGTTATCATTTTCCTGGAATCCCTCAGCGTAGCACGTAATAGTTGCTCAGAAGACACTTGCTGAATAGGTTTGAAGATTCACTGGTTTAAAAAATATCAGGTGGCCGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGCATGGTGGCGGGAGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGTAATAAAAAAATAATAAATCAGGAACCGGTCACCTCAATACGTATCAGATGCTGGTGAACACAGGTGGACAAAGTGGTTAACAGACAGGTTTTGTCCATCTCGTTCACCACCCTACCCAGCCTCAGCACCTAGACCAGTGTTGGCACCCAGTGGGCGCCAAATAAACACTGCTTGAACTCCAGACGTCAGCCGCTCTTTTTCCTACAGACCTTGAGCCACCTTGTTCCAAAGGGGATATGGGCCTCAGGAGGCGCCCAGAGGTGACCTCAGGCGGCCCGACCCAGGAGTCCAAGCTCCAGGAGCAGGGCCACGGGAGCAGCTGCGGAGAGGGGCGGCGCCAGGAGCCGGAGCGGGCAGCCGGGCGCTTCCAGGAAAAGTGGCGGGCGGCGGCGCGCCAGGGACCGTGGGCGGTGCCGTCGGAGCGGGCGGGTCACGTGACGCCCACAACAACGCCCACTTCTTGGTGGGCGGGGCACAGGTGGGCGGGGAGCATGCAAAACAGCCCAGGGCGGCGGCCAATCGCGGCGCGCGCCGGGGGTCCAGGCCCCGGGGATCCGAGGCGCCGCCCGCGCGCAGTCTCTGGTCACTGCCGCCCGGGGGCTTTTGCCAGCGGCGCCGCGGGCCTGCGTGCTGGGGCAGCGGGCACTTCTTCGACCTCGTCCTCCTCGTCCTGTGCGGCCGGCCGGGTGAGGCCGGGCCCGCGTAGGGGGCAGTCGGCGGCTGCCTCCGGCGGAGGTGCCTCGCGGCGCCCGGGCCGGCCCGCGCCTCGGCGGCGTGCTCCATGCATCCGGAGCCCGCCCCGCCCCCGAGCCGCAGCAGTCCCGAGCTTCCCCCAAGCGGCGGCAGCACCACCAGCGGCAGCCGCCGGAGCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCCCGCCACCGCCGCCGTCCGCCGTCACCTACCCGGACTGGATCGGCCAGAGTTACTCCGAGGTGATGAGCCTCAACGAGCACTCCATGCAGGCGCTGTCCTGGCGCAAGCTCTACTTGAGCCGCGCCAAGCTTAAAGCCTCCAGCCGGACCTCGGCTCTGCTCTCCGGCTTCGCCATGGTGAGCTCCGGCCGCCCTGCCCTGCCCCCTCTACTGTCCCGGCTGCTCCCGCCCGCAGCCCCGACGGGGCTCTCTGGGCGGGCCGGGCGGGCCAGAGTGAGGGGAAGAGCTGGGAGAAACCGTGGTGAGCGCTGCGCGGGGGGCAGAGGTGCTGGACGTGAGCACTGGTGGGCGCCGAGTACTCCGATCTGGGGTGGTGACAAGCCATATCAGAGTCCGGGCTCGGGGTGCTTGGGTGCCTCCACATGGCCATGCCTGCCCCAGCAAGAGTGGTAGATGCATCCCGAAGTTAGCTCTGTAAGAAGCCCGCCCCATGTGCGTTCAGGAGCGAAAGGAGGGACTCAGAAGCTCTAACCCAGCTGGGGGCGTCAGGAGGTGGGGACAAGGAGAAAGACCTTGCGCTGTCTTGTGCCCCGGCACCCGAGGCCGGAAGTTGTTAGCCGTGTTCTTTTATCAGCTCCTAGAGGGGATTTCCTGACACCCCTTTTCCACCGCATTTTCCGAGAGCCTCAGCCTGGGGGTTTGACAACCAGTCCCCCTCAGTTTTTTCTCCAGAAACTTGCCACTGAGTCACTGCGTGTGAGGGAGGAGGGAGGGACATGTTCCCGTTGAATGGGCTCTTTATTTTTTATTTGTTCCAAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGAAATTTCCACCTCCTGAGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCACGCCCGGCTAATTTTTGTGTTCTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGATCTTTAACTCTCGACCTCGTGATCTGCCAAATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCACACCCGGCCCAATGGGCTCTTTCTTGATCTAGGGCATAGGCATGCTTTCCTTTCCCCACCATCCCAAAGAGCTGGAGTGCAAAGCCTCTGAGGTGTGGGGTGGGTGAGGCTGCGGATGGGCCTGAGAAGTGGCTCTGGGGATACCCTCAGGCTTGGCATATTGAAGTTTCTCCGTTGCAGGGGACTACATAATAACTACATTATTACCACTCGGTGATATCAGCCTGCCATGAATGGACTCTGCTCCCCGCCCCTCAGTTCTGTAGACCAGAGCACTCCTGCCCCCGCCACCAGTGAGCTAAGCCCTTGGCCTTGAGGGAGGGAGTGGCTGCACCCTTCGTGTTTTCTTGGGAAGGGAGTGTGTCTGAAACTCTCCCTGCTTTGCCTTGCAGCAGAGCCTGAATTTTTTAAGGCCCAGAGCACGCTGGGCCACAGTGGAAAGGCCGGGAGATGGGGAGTGGGAAGCAGCCTTCCCTGCTCAGTTACTTGCTGCCTGTGTGACCTCAAGCAACTCACTCTCCCTGTCCGGGCCTCAATTCCTGAATTGATCAAAGAAGGCTGCTACTCAAAAGTTTCTCTGACTTTGAGAATAAAATTGAGGGAGCCCCTGAAAGGAGATCAGGGAGTGTGTTTGCATAAACAGACGGCACTCTCATTTTTAGTTTAGACAGGACGGACTTCTGCTCTGTTAATTTCAAATCCTAAGAGACCAGGTTCTGCCTGCTGCCTGAAGAATCTCTAAAAGCAGCTGGCATTTACTGAACACTCACTCAGTGCTAGGTGCCTTAACTCCTGGGCTTACTCAACAACCCTCTGTGGTGATTTTGTCAAAGGGCTCTCCCAAGACCGCACAGCCAGTCTGGTGGAGCGGGATTTGAACCCAGCTCTGCTGGTGTTCAGAACTTGCTCAGGCACTTGTACCCATTGCGGTGTATAGGAACTCTGATTGATGTCCAGCCAGGGATGTGTTAGGACACTAGGAAATGAGAAATAGGGCAAAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGACTCCTGGGTTCACGCCATTCTGCTGC
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GCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAGGAGTTCCAGGCTAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACGCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATACACACACACACACATATATATACATATATATGTGTATATATGTGTGTGTGTATATATATATATAAAATATTCAATGAAGGTTATCATTTTCCTGGAATCCCTCAGCGTAGCACGTAATAGTTGCTCAGAAGACACTTGCTGAATAGGTTTGAAGATTCACTGGTTTAAAAAATATCAGGTGGCCGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGCATGGTGGCGGGAGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGTAATAAAAAAATAATAAATCAGGAACCGGTCACCTCAATACGTATCAGATGCTGGTGAACACAGGTGGACAAAGTGGTTAACAGACAGGTTTTGTCCATCTCGTTCACCACCCTACCCAGCCTCAGCACCTAGACCAGTGTTGGCACCCAGTGGGCGCCAAATAAACACTGCTTGAACTCCAGACGTCAGCCGCTCTTTTTCCTACAGACCTTGAGCCACCTTGTTCCAAAGGGGATATGGGCCTCAGGAGGCGCCCAGAGGTGACCTCAGGCGGCCCGACCCAGGAGTCCAAGCTCCAGGAGCAGGGCCACGGGAGCAGCTGCGGAGAGGGGCGGCGCCAGGAGCCGGAGCGGGCAGCCGGGCGCTTCCAGGAAAAGTGGCGGGCGGCGGCGCGCCAGGGACCGTGGGCGGTGCCGTCGGAGCGGGCGGGTCACGTGACGCCCACAACAACGCCCACTTCTTGGTGGGCGGGGCACAGGTGGGCGGGGAGCATGCAAAACAGCCCAGGGCGGCGGCCAATCGCGGCGCGCGCCGGGGGTCCAGGCCCCGGGGATCCGAGGCGCCGCCCGCGCGCAGTCTCTGGTCACTGCCGCCCGGGGGCTTTTGCCAGCGGCGCCGCGGGCCTGCGTGCTGGGGCAGCGGGCACTTCTTCGACCTCGTCCTCCTCGTCCTGTGCGGCCGGCCGGGTGAGGCCGGGCCCGCGTAGGGGGCAGTCGGCGGCTGCCTCCGGCGGAGGTGCCTCGCGGCGCCCGGGCCGGCCCGCGCCTCGGCGGCGTGCTCCATGCATCCGGAGCCCGCCCCGCCCCCGAGCCGCAGCAGTCCCGAGCTTCCCCCAAGCGGCGGCAGCACCACCAGCGGCAGCCGCCGGAGCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCCCGCCACCGCCGCCGTCCGCCGTCACCTACCCGGACTGGATCGGCCAGAGTTACTCCGAGGTGATGAGCCTCAACGAGCACTCCATGCAGGCGCTGTCCTGGCGCAAGCTCTACTTGAGCCGCGCCAAGCTTAAAGCCTCCAGCCGGACCTCGGCTCTGCTCTCCAGCTTCGCCATGGTGAGCTCCGGCCGCCCTGCCCTGCCCCCTCTACTGTCCCGGCTGCTCCCGCCCGCAGCCCCGACGGGGCTCTCTGGGCGGGCCGGGCGGGCCAGAGTGAGGGGAAGAGCTGGGAGAAACCGTGGTGAGCGCTGCGCGGGGGGCAGAGGTGCTGGACGTGAGCACTGGTGGGCGCCGAGTACTCCGATCTGGGGTGGTGACAAGCCATATCAGAGTCCGGGCTCGGGGTGCTTGGGTGCCTCCACATGGCCATGCCTGCCCCAGCAAGAGTGGTAGATGCATCCCGAAGTTAGCTCTGTAAGAAGCCCGCCCCATGTGCGTTCAGGAGCGAAAGGAGGGACTCAGAAGCTCTAACCCAGCTGGGGGCGTCAGGAGGTGGGGACAAGGAGAAAGACCTTGCGCTGTCTTGTGCCCCGGCACCCGAGGCCGGAAGTTGTTAGCCGTGTTCTTTTATCAGCTCCTAGAGGGGATTTCCTGACACCCCTTTTCCACCGCATTTTCCGAGAGCCTCAGCCTGGGGGTTTGACAACCAGTCCCCCTCAGTTTTTTCTCCAGAAACTTGCCACTGAGTCACTGCGTGTGAGGGAGGAGGGAGGGACATGTTCCCGTTGAATGGGCTCTTTATTTTTTATTTGTTCCAAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGAAATTTCCACCTCCTGAGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCACGCCCGGCTAATTTTTGTGTTCTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGATCTTTAACTCTCGACCTCGTGATCTGCCAAATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCACACCCGGCCCAATGGGCTCTTTCTTGATCTAGGGCATAGGCATGCTTTCCTTTCCCCACCATCCCAAAGAGCTGGAGTGCAAAGCCTCTGAGGTGTGGGGTGGGTGAGGCTGCGGATGGGCCTGAGAAGTGGCTCTGGGGATACCCTCAGGCTTGGCATATTGAAGTTTCTCCGTTGCAGGGGACTACATAATAACTACATTATTACCACTCGGTGATATCAGCCTGCCATGAATGGACTCTGCTCCCCGCCCCTCAGTTCTGTAGACCAGAGCACTCCTGCCCCCGCCACCAGTGAGCTAAGCCCTTGGCCTTGAGGGAGGGAGTGGCTGCACCCTTCGTGTTTTCTTGGGAAGGGAGTGTGTCTGAAACTCTCCCTGCTTTGCCTTGCAGCAGAGCCTGAATTTTTTAAGGCCCAGAGCACGCTGGGCCACAGTGGAAAGGCCGGGAGATGGGGAGTGGGAAGCAGCCTTCCCTGCTCAGTTACTTGCTGCCTGTGTGACCTCAAGCAACTCACTCTCCCTGTCCGGGCCTCAATTCCTGAATTGATCAAAGAAGGCTGCTACTCAAAAGTTTCTCTGACTTTGAGAATAAAATTGAGGGAGCCCCTGAAAGGAGATCAGGGAGTGTGTTTGCATAAACAGACGGCACTCTCATTTTTAGTTTAGACAGGACGGACTTCTGCTCTGTTAATTTCAAATCCTAAGAGACCAGGTTCTGCCTGCTGCCTGAAGAATCTCTAAAAGCAGCTGGCATTTACTGAACACTCACTCAGTGCTAGGTGCCTTAACTCCTGGGCTTACTCAACAACCCTCTGTGGTGATTTTGTCAAAGGGCTCTCCCAAGACCGCACAGCCAGTCTGGTGGAGCGGGATTTGAACCCAGCTCTGCTGGTGTTCAGAACTTGCTCAGGCACTTGTACCCATTGCGGTGTATAGGAACTCTGATTGATGTCCAGCCAGGGATGTGTTAGGACACTAGGAAATGAGAAATAGGGCAAAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGACTCCTGGGTTCACGCCATTCTGCTGC
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Task1_train_18878
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The following genetic variant occurs in ORAI1 (ORAI calcium release-activated calcium modulator 1) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Combined immunodeficiency due to ORAI1 deficiency
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CTGGTGTGTCAGCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGTGGTGGTTGGTACTAATTTTAATTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGTTAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCAGTCATAGCTCACCACCACCTCAAACTCCTGGGCTCCAGCGATCCTTCCCCACCAGACTCCCAAGTAGCTAGAACTACAGGTGTGCACCACCACCCCCCAGCTAATTAAACAAATTTTTTTTATAGAGGTGGGGTTTCTCTGTGTTGCCTGGCTGCTCTCGAACTCCTGGCCTCAAGCAGTCCTCCCACCGCAGCCTCCACAAGTATTGAGATTACAGGCGTGAGCCACTGTGCCTGTCCTGCGGCTGGTTTCTAATACCTGGCTAGGTGGTAATAGCAGTGTTTTGGGAGGTGGTTACCATGTGCCAGCTCTCATTTAATTGTTAAAATAATTCTATGAATTGGCTGGGTGTGGTGGCTCACACATGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGGTGGGTCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACCAAAAGTACAAAAAAGTAGCAAGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGTGGAGGTTGCAGTCAGCCGAGATCGCATCACTGGGCTCCAGCCTGGGCAAAAGAGCACGACTCTGTTTGGAGAAAAAAAAAAAAAAAATCCTATGAACTACTATTATATCCCTATTTTACGGATAAGAAAGTCGAGGCTCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTAGCTTGGGCAACAGAGTGAGACTCCCTCTCAAAAAAAAAGAAAAGAAAAGAAAATCGAGGCTCAGAGAGGTTAAGTGACTTTCCCAGGGTTGCACAGTTAGTGAGTGCCAGGGCTGGGATTCAGATCCAGGCAGCCTTGGCTCTTGCTTTCTGTAGGGCTTTCTGCCACTCTCATCCACAAGTGGATAGGCCTTACTATCCCCATTGTAGACATATGAAAACTGAGGCTCGGAGAGGCCAAGCGACTGGCCAGGGTCCCAGAGCCTGACAGGAGGAGAGCTAGGACTGAAGAGTAGTAGTGTGGGCTGGGACCGCTGGCACTCATCCTGCCTGTCCCCCCGCAGGTGGCAATGGTGGAGGTGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCGGCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTCACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAAACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCACACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGCATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTGCTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCACTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTCCAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAATTCAACATTTTATTTTGAGAAATTTCAAACCTACAAAAAGTTGCAGGAATAGTGTCTATCTGAAATACATATTCAGTCTTTTCTTTAGAAGTCTTTTTTTTTTTTTTTTTTTTAAATAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGTAAAATCACTGTGAGCACTGACTTAGCACATACTGGACCGTTGCTCCTAGGAGAAATACAGGGTTGCGTTCCTGTGAGCTTTGGTCGTGATATTTTCATCAGCTGATCAATATGTAATCTTGTTTTATGTGTATTTCTGTTTAAAGATTCATATATATATGTGTATATATATATATGGTTGAGTTGTTACCGTTGAACTCACAGCCCACAGGACTAGAACACATGCCTAAAT
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CTGGTGTGTCAGCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGTGGTGGTTGGTACTAATTTTAATTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGTTAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCAGTCATAGCTCACCACCACCTCAAACTCCTGGGCTCCAGCGATCCTTCCCCACCAGACTCCCAAGTAGCTAGAACTACAGGTGTGCACCACCACCCCCCAGCTAATTAAACAAATTTTTTTTATAGAGGTGGGGTTTCTCTGTGTTGCCTGGCTGCTCTCGAACTCCTGGCCTCAAGCAGTCCTCCCACCGCAGCCTCCACAAGTATTGAGATTACAGGCGTGAGCCACTGTGCCTGTCCTGCGGCTGGTTTCTAATACCTGGCTAGGTGGTAATAGCAGTGTTTTGGGAGGTGGTTACCATGTGCCAGCTCTCATTTAATTGTTAAAATAATTCTATGAATTGGCTGGGTGTGGTGGCTCACACATGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGGTGGGTCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACCAAAAGTACAAAAAAGTAGCAAGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGTGGAGGTTGCAGTCAGCCGAGATCGCATCACTGGGCTCCAGCCTGGGCAAAAGAGCACGACTCTGTTTGGAGAAAAAAAAAAAAAAAATCCTATGAACTACTATTATATCCCTATTTTACGGATAAGAAAGTCGAGGCTCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTAGCTTGGGCAACAGAGTGAGACTCCCTCTCAAAAAAAAAGAAAAGAAAAGAAAATCGAGGCTCAGAGAGGTTAAGTGACTTTCCCAGGGTTGCACAGTTAGTGAGTGCCAGGGCTGGGATTCAGATCCAGGCAGCCTTGGCTCTTGCTTTCTGTAGGGCTTTCTGCCACTCTCATCCACAAGTGGATAGGCCTTACTATCCCCATTGTAGACATATGAAAACTGAGGCTCGGAGAGGCCAAGCGACTGGCCAGGGTCCCAGAGCCTGACAGGAGGAGAGCTAGGACTGAAGAGTAGTAGTGTGGGCTGGGACCGCTGGCACTCATCCTGCCTGTCCCCCCGCAGGTGGAAATGGTGGAGGTGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCGGCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTCACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAAACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCACACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGCATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTGCTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCACTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTCCAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAATTCAACATTTTATTTTGAGAAATTTCAAACCTACAAAAAGTTGCAGGAATAGTGTCTATCTGAAATACATATTCAGTCTTTTCTTTAGAAGTCTTTTTTTTTTTTTTTTTTTTAAATAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGTAAAATCACTGTGAGCACTGACTTAGCACATACTGGACCGTTGCTCCTAGGAGAAATACAGGGTTGCGTTCCTGTGAGCTTTGGTCGTGATATTTTCATCAGCTGATCAATATGTAATCTTGTTTTATGTGTATTTCTGTTTAAAGATTCATATATATATGTGTATATATATATATGGTTGAGTTGTTACCGTTGAACTCACAGCCCACAGGACTAGAACACATGCCTAAAT
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Task1_train_18879
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Located on Chromosome 12, this mutation impacts ORAI1 (ORAI calcium release-activated calcium modulator 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Myopathy, tubular aggregate, 2
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GCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGTGGTGGTTGGTACTAATTTTAATTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGTTAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCAGTCATAGCTCACCACCACCTCAAACTCCTGGGCTCCAGCGATCCTTCCCCACCAGACTCCCAAGTAGCTAGAACTACAGGTGTGCACCACCACCCCCCAGCTAATTAAACAAATTTTTTTTATAGAGGTGGGGTTTCTCTGTGTTGCCTGGCTGCTCTCGAACTCCTGGCCTCAAGCAGTCCTCCCACCGCAGCCTCCACAAGTATTGAGATTACAGGCGTGAGCCACTGTGCCTGTCCTGCGGCTGGTTTCTAATACCTGGCTAGGTGGTAATAGCAGTGTTTTGGGAGGTGGTTACCATGTGCCAGCTCTCATTTAATTGTTAAAATAATTCTATGAATTGGCTGGGTGTGGTGGCTCACACATGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGGTGGGTCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACCAAAAGTACAAAAAAGTAGCAAGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGTGGAGGTTGCAGTCAGCCGAGATCGCATCACTGGGCTCCAGCCTGGGCAAAAGAGCACGACTCTGTTTGGAGAAAAAAAAAAAAAAAATCCTATGAACTACTATTATATCCCTATTTTACGGATAAGAAAGTCGAGGCTCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTAGCTTGGGCAACAGAGTGAGACTCCCTCTCAAAAAAAAAGAAAAGAAAAGAAAATCGAGGCTCAGAGAGGTTAAGTGACTTTCCCAGGGTTGCACAGTTAGTGAGTGCCAGGGCTGGGATTCAGATCCAGGCAGCCTTGGCTCTTGCTTTCTGTAGGGCTTTCTGCCACTCTCATCCACAAGTGGATAGGCCTTACTATCCCCATTGTAGACATATGAAAACTGAGGCTCGGAGAGGCCAAGCGACTGGCCAGGGTCCCAGAGCCTGACAGGAGGAGAGCTAGGACTGAAGAGTAGTAGTGTGGGCTGGGACCGCTGGCACTCATCCTGCCTGTCCCCCCGCAGGTGGCAATGGTGGAGGTGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCGGCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTCACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAAACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCACACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGCATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTGCTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCACTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTCCAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAATTCAACATTTTATTTTGAGAAATTTCAAACCTACAAAAAGTTGCAGGAATAGTGTCTATCTGAAATACATATTCAGTCTTTTCTTTAGAAGTCTTTTTTTTTTTTTTTTTTTTAAATAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGTAAAATCACTGTGAGCACTGACTTAGCACATACTGGACCGTTGCTCCTAGGAGAAATACAGGGTTGCGTTCCTGTGAGCTTTGGTCGTGATATTTTCATCAGCTGATCAATATGTAATCTTGTTTTATGTGTATTTCTGTTTAAAGATTCATATATATATGTGTATATATATATATGGTTGAGTTGTTACCGTTGAACTCACAGCCCACAGGACTAGAACACATGCCTAAATAAAGTTTATCT
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GCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGTGGTGGTTGGTACTAATTTTAATTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGTTAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCAGTCATAGCTCACCACCACCTCAAACTCCTGGGCTCCAGCGATCCTTCCCCACCAGACTCCCAAGTAGCTAGAACTACAGGTGTGCACCACCACCCCCCAGCTAATTAAACAAATTTTTTTTATAGAGGTGGGGTTTCTCTGTGTTGCCTGGCTGCTCTCGAACTCCTGGCCTCAAGCAGTCCTCCCACCGCAGCCTCCACAAGTATTGAGATTACAGGCGTGAGCCACTGTGCCTGTCCTGCGGCTGGTTTCTAATACCTGGCTAGGTGGTAATAGCAGTGTTTTGGGAGGTGGTTACCATGTGCCAGCTCTCATTTAATTGTTAAAATAATTCTATGAATTGGCTGGGTGTGGTGGCTCACACATGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGGTGGGTCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACCAAAAGTACAAAAAAGTAGCAAGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGTGGAGGTTGCAGTCAGCCGAGATCGCATCACTGGGCTCCAGCCTGGGCAAAAGAGCACGACTCTGTTTGGAGAAAAAAAAAAAAAAAATCCTATGAACTACTATTATATCCCTATTTTACGGATAAGAAAGTCGAGGCTCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTAGCTTGGGCAACAGAGTGAGACTCCCTCTCAAAAAAAAAGAAAAGAAAAGAAAATCGAGGCTCAGAGAGGTTAAGTGACTTTCCCAGGGTTGCACAGTTAGTGAGTGCCAGGGCTGGGATTCAGATCCAGGCAGCCTTGGCTCTTGCTTTCTGTAGGGCTTTCTGCCACTCTCATCCACAAGTGGATAGGCCTTACTATCCCCATTGTAGACATATGAAAACTGAGGCTCGGAGAGGCCAAGCGACTGGCCAGGGTCCCAGAGCCTGACAGGAGGAGAGCTAGGACTGAAGAGTAGTAGTGTGGGCTGGGACCGCTGGCACTCATCCTGCCTGTCCCCCCGCAGGTGGCAATGGTGGAGATGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCGGCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTCACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAAACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCACACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGCATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTGCTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCACTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTCCAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAATTCAACATTTTATTTTGAGAAATTTCAAACCTACAAAAAGTTGCAGGAATAGTGTCTATCTGAAATACATATTCAGTCTTTTCTTTAGAAGTCTTTTTTTTTTTTTTTTTTTTAAATAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGTAAAATCACTGTGAGCACTGACTTAGCACATACTGGACCGTTGCTCCTAGGAGAAATACAGGGTTGCGTTCCTGTGAGCTTTGGTCGTGATATTTTCATCAGCTGATCAATATGTAATCTTGTTTTATGTGTATTTCTGTTTAAAGATTCATATATATATGTGTATATATATATATGGTTGAGTTGTTACCGTTGAACTCACAGCCCACAGGACTAGAACACATGCCTAAATAAAGTTTATCT
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Task1_train_18880
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This variant affects gene ORAI1 (ORAI calcium release-activated calcium modulator 1) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Combined immunodeficiency due to ORAI1 deficiency
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GCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGTGGTGGTTGGTACTAATTTTAATTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGTTAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCAGTCATAGCTCACCACCACCTCAAACTCCTGGGCTCCAGCGATCCTTCCCCACCAGACTCCCAAGTAGCTAGAACTACAGGTGTGCACCACCACCCCCCAGCTAATTAAACAAATTTTTTTTATAGAGGTGGGGTTTCTCTGTGTTGCCTGGCTGCTCTCGAACTCCTGGCCTCAAGCAGTCCTCCCACCGCAGCCTCCACAAGTATTGAGATTACAGGCGTGAGCCACTGTGCCTGTCCTGCGGCTGGTTTCTAATACCTGGCTAGGTGGTAATAGCAGTGTTTTGGGAGGTGGTTACCATGTGCCAGCTCTCATTTAATTGTTAAAATAATTCTATGAATTGGCTGGGTGTGGTGGCTCACACATGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGGTGGGTCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACCAAAAGTACAAAAAAGTAGCAAGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGTGGAGGTTGCAGTCAGCCGAGATCGCATCACTGGGCTCCAGCCTGGGCAAAAGAGCACGACTCTGTTTGGAGAAAAAAAAAAAAAAAATCCTATGAACTACTATTATATCCCTATTTTACGGATAAGAAAGTCGAGGCTCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTAGCTTGGGCAACAGAGTGAGACTCCCTCTCAAAAAAAAAGAAAAGAAAAGAAAATCGAGGCTCAGAGAGGTTAAGTGACTTTCCCAGGGTTGCACAGTTAGTGAGTGCCAGGGCTGGGATTCAGATCCAGGCAGCCTTGGCTCTTGCTTTCTGTAGGGCTTTCTGCCACTCTCATCCACAAGTGGATAGGCCTTACTATCCCCATTGTAGACATATGAAAACTGAGGCTCGGAGAGGCCAAGCGACTGGCCAGGGTCCCAGAGCCTGACAGGAGGAGAGCTAGGACTGAAGAGTAGTAGTGTGGGCTGGGACCGCTGGCACTCATCCTGCCTGTCCCCCCGCAGGTGGCAATGGTGGAGGTGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCGGCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTCACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAAACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCACACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGCATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTGCTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCACTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTCCAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAATTCAACATTTTATTTTGAGAAATTTCAAACCTACAAAAAGTTGCAGGAATAGTGTCTATCTGAAATACATATTCAGTCTTTTCTTTAGAAGTCTTTTTTTTTTTTTTTTTTTTAAATAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGTAAAATCACTGTGAGCACTGACTTAGCACATACTGGACCGTTGCTCCTAGGAGAAATACAGGGTTGCGTTCCTGTGAGCTTTGGTCGTGATATTTTCATCAGCTGATCAATATGTAATCTTGTTTTATGTGTATTTCTGTTTAAAGATTCATATATATATGTGTATATATATATATGGTTGAGTTGTTACCGTTGAACTCACAGCCCACAGGACTAGAACACATGCCTAAATAAAGTTTATCT
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GCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGTGGTGGTTGGTACTAATTTTAATTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGTTAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCAGTCATAGCTCACCACCACCTCAAACTCCTGGGCTCCAGCGATCCTTCCCCACCAGACTCCCAAGTAGCTAGAACTACAGGTGTGCACCACCACCCCCCAGCTAATTAAACAAATTTTTTTTATAGAGGTGGGGTTTCTCTGTGTTGCCTGGCTGCTCTCGAACTCCTGGCCTCAAGCAGTCCTCCCACCGCAGCCTCCACAAGTATTGAGATTACAGGCGTGAGCCACTGTGCCTGTCCTGCGGCTGGTTTCTAATACCTGGCTAGGTGGTAATAGCAGTGTTTTGGGAGGTGGTTACCATGTGCCAGCTCTCATTTAATTGTTAAAATAATTCTATGAATTGGCTGGGTGTGGTGGCTCACACATGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGGTGGGTCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACCAAAAGTACAAAAAAGTAGCAAGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGTGGAGGTTGCAGTCAGCCGAGATCGCATCACTGGGCTCCAGCCTGGGCAAAAGAGCACGACTCTGTTTGGAGAAAAAAAAAAAAAAAATCCTATGAACTACTATTATATCCCTATTTTACGGATAAGAAAGTCGAGGCTCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTAGCTTGGGCAACAGAGTGAGACTCCCTCTCAAAAAAAAAGAAAAGAAAAGAAAATCGAGGCTCAGAGAGGTTAAGTGACTTTCCCAGGGTTGCACAGTTAGTGAGTGCCAGGGCTGGGATTCAGATCCAGGCAGCCTTGGCTCTTGCTTTCTGTAGGGCTTTCTGCCACTCTCATCCACAAGTGGATAGGCCTTACTATCCCCATTGTAGACATATGAAAACTGAGGCTCGGAGAGGCCAAGCGACTGGCCAGGGTCCCAGAGCCTGACAGGAGGAGAGCTAGGACTGAAGAGTAGTAGTGTGGGCTGGGACCGCTGGCACTCATCCTGCCTGTCCCCCCGCAGGTGGCAATGGTGGAGATGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCGGCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTCACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAAACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCACACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGCATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTGCTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCACTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTCCAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAATTCAACATTTTATTTTGAGAAATTTCAAACCTACAAAAAGTTGCAGGAATAGTGTCTATCTGAAATACATATTCAGTCTTTTCTTTAGAAGTCTTTTTTTTTTTTTTTTTTTTAAATAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGTAAAATCACTGTGAGCACTGACTTAGCACATACTGGACCGTTGCTCCTAGGAGAAATACAGGGTTGCGTTCCTGTGAGCTTTGGTCGTGATATTTTCATCAGCTGATCAATATGTAATCTTGTTTTATGTGTATTTCTGTTTAAAGATTCATATATATATGTGTATATATATATATGGTTGAGTTGTTACCGTTGAACTCACAGCCCACAGGACTAGAACACATGCCTAAATAAAGTTTATCT
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Task1_train_18881
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The gene ORAI1 (ORAI calcium release-activated calcium modulator 1), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Myopathy, tubular aggregate, 2
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AGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCAGTCATAGCTCACCACCACCTCAAACTCCTGGGCTCCAGCGATCCTTCCCCACCAGACTCCCAAGTAGCTAGAACTACAGGTGTGCACCACCACCCCCCAGCTAATTAAACAAATTTTTTTTATAGAGGTGGGGTTTCTCTGTGTTGCCTGGCTGCTCTCGAACTCCTGGCCTCAAGCAGTCCTCCCACCGCAGCCTCCACAAGTATTGAGATTACAGGCGTGAGCCACTGTGCCTGTCCTGCGGCTGGTTTCTAATACCTGGCTAGGTGGTAATAGCAGTGTTTTGGGAGGTGGTTACCATGTGCCAGCTCTCATTTAATTGTTAAAATAATTCTATGAATTGGCTGGGTGTGGTGGCTCACACATGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGGTGGGTCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACCAAAAGTACAAAAAAGTAGCAAGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGTGGAGGTTGCAGTCAGCCGAGATCGCATCACTGGGCTCCAGCCTGGGCAAAAGAGCACGACTCTGTTTGGAGAAAAAAAAAAAAAAAATCCTATGAACTACTATTATATCCCTATTTTACGGATAAGAAAGTCGAGGCTCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTAGCTTGGGCAACAGAGTGAGACTCCCTCTCAAAAAAAAAGAAAAGAAAAGAAAATCGAGGCTCAGAGAGGTTAAGTGACTTTCCCAGGGTTGCACAGTTAGTGAGTGCCAGGGCTGGGATTCAGATCCAGGCAGCCTTGGCTCTTGCTTTCTGTAGGGCTTTCTGCCACTCTCATCCACAAGTGGATAGGCCTTACTATCCCCATTGTAGACATATGAAAACTGAGGCTCGGAGAGGCCAAGCGACTGGCCAGGGTCCCAGAGCCTGACAGGAGGAGAGCTAGGACTGAAGAGTAGTAGTGTGGGCTGGGACCGCTGGCACTCATCCTGCCTGTCCCCCCGCAGGTGGCAATGGTGGAGGTGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCGGCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTCACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAAACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCACACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGCATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTGCTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCACTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTCCAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAATTCAACATTTTATTTTGAGAAATTTCAAACCTACAAAAAGTTGCAGGAATAGTGTCTATCTGAAATACATATTCAGTCTTTTCTTTAGAAGTCTTTTTTTTTTTTTTTTTTTTAAATAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGTAAAATCACTGTGAGCACTGACTTAGCACATACTGGACCGTTGCTCCTAGGAGAAATACAGGGTTGCGTTCCTGTGAGCTTTGGTCGTGATATTTTCATCAGCTGATCAATATGTAATCTTGTTTTATGTGTATTTCTGTTTAAAGATTCATATATATATGTGTATATATATATATGGTTGAGTTGTTACCGTTGAACTCACAGCCCACAGGACTAGAACACATGCCTAAATAAAGTTTATCTAACATACTTGTTTTCTCCATATGTATATCCATCATAACCTTCTTGCACTGAGGAATATTAGATAATATATATATGTATTTATGTATTATACATATATATATATATTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAAGGGCACGATCTCTGCTCACTGCAACCTCCACCTTCTGGTTTCTTTCTTTTGTTTGAAACAAAGTTTTACCTTGTTGCCCAGGCTCCAGTGCAGCGGCACAATCTCAGCTTACTACAGCCTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTAGGATTACAGGCATGCACCACCATGCCCAGCTGATTTTTGTGTTTTTAGTAGAGACGGGGTTTTACCACGTTGGCCAGGCTGGTCTCGAAC
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AGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCAGTCATAGCTCACCACCACCTCAAACTCCTGGGCTCCAGCGATCCTTCCCCACCAGACTCCCAAGTAGCTAGAACTACAGGTGTGCACCACCACCCCCCAGCTAATTAAACAAATTTTTTTTATAGAGGTGGGGTTTCTCTGTGTTGCCTGGCTGCTCTCGAACTCCTGGCCTCAAGCAGTCCTCCCACCGCAGCCTCCACAAGTATTGAGATTACAGGCGTGAGCCACTGTGCCTGTCCTGCGGCTGGTTTCTAATACCTGGCTAGGTGGTAATAGCAGTGTTTTGGGAGGTGGTTACCATGTGCCAGCTCTCATTTAATTGTTAAAATAATTCTATGAATTGGCTGGGTGTGGTGGCTCACACATGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGGTGGGTCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACCAAAAGTACAAAAAAGTAGCAAGGTGTGGTGGCGCATGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGTGGAGGTTGCAGTCAGCCGAGATCGCATCACTGGGCTCCAGCCTGGGCAAAAGAGCACGACTCTGTTTGGAGAAAAAAAAAAAAAAAATCCTATGAACTACTATTATATCCCTATTTTACGGATAAGAAAGTCGAGGCTCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTAGCTTGGGCAACAGAGTGAGACTCCCTCTCAAAAAAAAAGAAAAGAAAAGAAAATCGAGGCTCAGAGAGGTTAAGTGACTTTCCCAGGGTTGCACAGTTAGTGAGTGCCAGGGCTGGGATTCAGATCCAGGCAGCCTTGGCTCTTGCTTTCTGTAGGGCTTTCTGCCACTCTCATCCACAAGTGGATAGGCCTTACTATCCCCATTGTAGACATATGAAAACTGAGGCTCGGAGAGGCCAAGCGACTGGCCAGGGTCCCAGAGCCTGACAGGAGGAGAGCTAGGACTGAAGAGTAGTAGTGTGGGCTGGGACCGCTGGCACTCATCCTGCCTGTCCCCCCGCAGGTGGCAATGGTGGAGGTGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCATCGCCTCGACCACCATCATGGTGCTCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCGGCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTCACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAAACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCACACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGCATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTGCTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCACTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTCCAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAGAAAAAAAAATTCAACATTTTATTTTGAGAAATTTCAAACCTACAAAAAGTTGCAGGAATAGTGTCTATCTGAAATACATATTCAGTCTTTTCTTTAGAAGTCTTTTTTTTTTTTTTTTTTTTAAATAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGTAAAATCACTGTGAGCACTGACTTAGCACATACTGGACCGTTGCTCCTAGGAGAAATACAGGGTTGCGTTCCTGTGAGCTTTGGTCGTGATATTTTCATCAGCTGATCAATATGTAATCTTGTTTTATGTGTATTTCTGTTTAAAGATTCATATATATATGTGTATATATATATATGGTTGAGTTGTTACCGTTGAACTCACAGCCCACAGGACTAGAACACATGCCTAAATAAAGTTTATCTAACATACTTGTTTTCTCCATATGTATATCCATCATAACCTTCTTGCACTGAGGAATATTAGATAATATATATATGTATTTATGTATTATACATATATATATATATTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAAGGGCACGATCTCTGCTCACTGCAACCTCCACCTTCTGGTTTCTTTCTTTTGTTTGAAACAAAGTTTTACCTTGTTGCCCAGGCTCCAGTGCAGCGGCACAATCTCAGCTTACTACAGCCTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTAGGATTACAGGCATGCACCACCATGCCCAGCTGATTTTTGTGTTTTTAGTAGAGACGGGGTTTTACCACGTTGGCCAGGCTGGTCTCGAAC
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Task1_train_18882
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Gene SETD1B (SET domain containing 1B, histone lysine methyltransferase), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Intellectual developmental disorder with seizures and language delay
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TTTTTTTTTTTTTTTTTTTTCGGAGATGGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAATGGCGTGATCTCAGCCCTCTGCAGCCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTAAGTAGCTGGGACTATAGGCACCCACTACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCTTCAGCCTACCAAAGTGCTGGGATTACAGATGTGAGCCACTATGCCTGGTCTCTTTTTTCCTTTTTAACATATTATTTGCCTGTTTGCAATCTTACAGGTAATCTAAAATTACTTATTTTCTCCATAAGAGAGAACTTTTTCTTGAATACTTTAAACTCCCCTTAATCCCTCCCCTCCACCCCATTCCCCCCTGCTCCCCTCCCTCGACCGTGGTTATGAGTTTGAGTGTCCCCTGGAGCCTGCTTTGGGAAATGCTTGCTTTCTGCCACAGAGGTAAGCAGCACTTGTCAGAGCCTGTTTGTCATCCGTTTAACTGGGCAGTAAAATTAGAATGAACCGTCTGAAATCACTGATACACAGCTCTTTATGGTTCAGCCAAATTATACTGACCCTACAGTAACAGCTAATAGCTATTCCATTCACAATTTGAATAAAAAGAGCCACCAGGCCTCATGTGCCCTGCACCTTGCAAAGCTCTTCATGTGGCTCGTTTTGTTAATTCTCACAGCATCCCTTTGAAGGCAGAGCATTTCAGAACCACAGGGGCAACCCCTTAGTGAGCAGTGAAATAAAGCCAGTAGGTCCTGTTTTTAATGCATGGGAAGAGAAGAGAAAATGGGATAGTGTAAATCTTACCTTGTGAAGGTGGTGTTGCACAGATGTGTCCCTATGGTGTAGTTTTTGGATTGTCTGCAAAGTGCAAAGGCCACTGTTGTAAGGAAGGCAGGTACAGTAGTCCTATTCTACAGGGGAGGACATTGAGATCTATGAGGCAGAGCGGTGCTCTAGAGCCTCGTGGGTAACGGCATAGTGTGGCCAGGTGTGTAGGGAATGAGGATGCAGTTACCTGTGGTGGCTGTTACTGCCGAGTGGAAGGCAGGTAGCCTGGGGAGGGCTCCCTGCAAGGGTTGGTGGTGCCAGAAGCGGTGACGGTCCCCTCCTGTCTCCACCCCAGGCCTCGCTGACCCCGGTGAAGTCGGGCGAGCACAAGGACGAGGACAGGCCGAAGCCCAAGGACCGCATCGCCTCGTGCCTGCTGGAGTCATGGGGCAAGGGCGAGGGCCTGGGCTACGAGGGCCTGGGCCTGGGCATTGGGCTGCGTGGGGCCATTCGCCTGCCCTCCTTCAAGGTCAAGAGGAAGGAGCCACCAGACACCACCTCATCTGGCGACCAGAAGCGGCTGCGGCCCTCGACCTCTGTGGATGAGGAAGATGAAGGTTCGTGCTCTGGGTGCTGGGGTCCCCTTCTTCCGCATCCCCCCAGCCCAGCTCTGACTCCCTCCCTTCCTGCAGAGTCCGAGCGAGAGCGAGACCGGGATATGGCAGACACCCCCTGTGAGCTCGCCAAGCGGGACCCCAAGGGCGTGGGTGTGCGGCGGCGGCCGGCGCGGCCTCTGGAGCTGGACAGTGGTGGGGAGGAGGACGAGAAGGAGTCATTGTCGGCGTCCTCGTCCTCATCCGCGTCATCATCCTCGGGGTCCTCAACCACCTCACCCTCGTCCTCGGCCTCCGACAAGGAGGAGGAACAGGAGAGCACCGAGGAGGAAGAGGAGGCGGAGGAGGAGGAGGAGGAGGAAGTCCCCAGGAGCCAGCTCTCCTCCTCCTCAACCTCATCCACATCAGATAAGGTGCCTAGCAGGCCAGGAAGCCTCAGGGGGCCGGGCCAGGCGACGAGGGCCAGACCCTTCGGCTCACCTGTCCCCACTCTTCCTTCTCCCCCAGGATGACGACGATGACGACAGTGATGACCGGGACGAGTCTGAGAACGATGACGAGGACACAGCCCTGTCAGAGGCGAGTGAGAAGGACGAAGGGGACTCGGATGAAGGTGAGCAGGGAGGCCGTGGCTGCCTGGCCCTCCCGGAGTCCCTCTTTCCCCGGGGCAGAGCCTGAGCAATTGTCAGAAATACTTCTGAGCCAAAATGTTGTGCTTTTGAGACGTTACCTTGTTAAAACACACACACAGGGTGGCGTACGGTTCCATCTTCAGGGAGTGCCGTGAACATAATGGCATGTCCATAGAAATAGAAAGCAGGTCTGTGGTCCTTAGGGCTGGGGAGCCCGGTGTTCAGGGGGGCTTGCTCAGCCTACATGGCTTCCTTTTCAACTGATAAAAATACTTAGGGACCAGATCGAGGTGGTGGTTGTGCAACATTACAAATGTACTAAATGCTGCTGGAATTATCACTTTGTAACGAGCAGTTGGCCGGACGCAGTGGCTTACACCTGTAATCCCAGCACTTTGAGAGGCCTAGGCGAGTGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGACACTCCACCTCAAAAAAAATAATAAATAAAATTTTTTTTACAAAGTGAGCAGTTTTTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAACAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGGGATCGCCCCACTGCACTCCACCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTGAGCAGTTTTCTGTTATGTTAATTTTACCTCAGTTTTTAAAAGCGACTACTAGCGGCCGGGTGTGGTGGCTCACTCCTTTAATCCCAGCACTTTGGGAGGCTGAGGCAAGTGGATCACCTGAGGTCAGGAGTTTGAAACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGTCTGGGCAACAAGAGCAAAACTCAAAAAAAAGAAAAAAAAGACTCCTAGTGAACACATGCCCCACACACATATCTGAGGGCCGTGTTCAGCCTGGGTGCCACCAGTTTGAGGCCATTGGTGAGGGGTCTGGTGGGGGCTGGGGCACAGCGGGTCCTCAGGCAGCCCCTCGTCTGTGTCCCCCATCCAGAGGAGACAGTGAGCATTGTAACCTCCAAGGCCGAAGCCACGTCGTCCAGTGAGAGTTCCGAGTCTTCTGAGTTTGAGTCAAGCTCCGAGTCCTCGCCCTCATCCTCGGAGGATGAGGAGGAGGTAGTGGCCAGGGAAGAGGAGGAAGAAGAGGAGGAGGAGGAGATGGTGGCCGAGGAAAGCATGGCTTCTGCAGGCCCTGAGGACTTTGAGCAGGACGGGGAGGAAGCGGCTCTGGCCCCGGGGGCACCTGCAGTGGACTCGTTGGGCATGGAAGAGGAGGTGGACATCGAGACTGAGGCTGTGGCCCCTGAGGAGCGGCCCTCCATGCTGGACGAGCCCCCCTTGCCTGTGGGTGTTGAAGAGCCAGCGGACTCCAGGGAGCCGCCTGAGGAACCAGGCCTGAGCCAGGAAGGGGCCATGTTGCTGTCTCCAGAGCCCCCTGCCAAGGAGGTGGAGGCTCGACCCCCATTGTCCCCTGAGCGAGCTCCAGGTAACACCTGCAACCCCCTGGGAG
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TTTTTTTTTTTTTTTTTTTTCGGAGATGGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAATGGCGTGATCTCAGCCCTCTGCAGCCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTAAGTAGCTGGGACTATAGGCACCCACTACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCTTCAGCCTACCAAAGTGCTGGGATTACAGATGTGAGCCACTATGCCTGGTCTCTTTTTTCCTTTTTAACATATTATTTGCCTGTTTGCAATCTTACAGGTAATCTAAAATTACTTATTTTCTCCATAAGAGAGAACTTTTTCTTGAATACTTTAAACTCCCCTTAATCCCTCCCCTCCACCCCATTCCCCCCTGCTCCCCTCCCTCGACCGTGGTTATGAGTTTGAGTGTCCCCTGGAGCCTGCTTTGGGAAATGCTTGCTTTCTGCCACAGAGGTAAGCAGCACTTGTCAGAGCCTGTTTGTCATCCGTTTAACTGGGCAGTAAAATTAGAATGAACCGTCTGAAATCACTGATACACAGCTCTTTATGGTTCAGCCAAATTATACTGACCCTACAGTAACAGCTAATAGCTATTCCATTCACAATTTGAATAAAAAGAGCCACCAGGCCTCATGTGCCCTGCACCTTGCAAAGCTCTTCATGTGGCTCGTTTTGTTAATTCTCACAGCATCCCTTTGAAGGCAGAGCATTTCAGAACCACAGGGGCAACCCCTTAGTGAGCAGTGAAATAAAGCCAGTAGGTCCTGTTTTTAATGCATGGGAAGAGAAGAGAAAATGGGATAGTGTAAATCTTACCTTGTGAAGGTGGTGTTGCACAGATGTGTCCCTATGGTGTAGTTTTTGGATTGTCTGCAAAGTGCAAAGGCCACTGTTGTAAGGAAGGCAGGTACAGTAGTCCTATTCTACAGGGGAGGACATTGAGATCTATGAGGCAGAGCGGTGCTCTAGAGCCTCGTGGGTAACGGCATAGTGTGGCCAGGTGTGTAGGGAATGAGGATGCAGTTACCTGTGGTGGCTGTTACTGCCGAGTGGAAGGCAGGTAGCCTGGGGAGGGCTCCCTGCAAGGGTTGGTGGTGCCAGAAGCGGTGACGGTCCCCTCCTGTCTCCACCCCAGGCCTCGCTGACCCCGGTGAAGTCGGGCGAGCACAAGGACGAGGACAGGCCGAAGCCCAAGGACCGCATCGCCTCGTGCCTGCTGGAGTCATGGGGCAAGGGCGAGGGCCTGGGCTACGAGGGCCTGGGCCTGGGCATTGGGCTGCGTGGGGCCATTCGCCTGCCCTCCTTCAAGGTCAAGAGGAAGGAGCCACCAGACACCACCTCATCTGGCGACCAGAAGCGGCTGCGGCCCTCGACCTCTGTGGATGAGGAAGATGAAGGTTCGTGCTCTGGGTGCTGGGGTCCCCTTCTTCCGCATCCCCCCAGCCCAGCTCTGACTCCCTCCCTTCCTGCAGAGTCCGAGCGAGAGCGAGACCGGGATATGGCAGACACCCCCTGTGAGCTCGCCAAGCGGGACCCCAAGGGCGTGGGTGTGCGGCGGCGGCCGGCGCGGCCTCTGGAGCTGGACAGTGGTGGGGAGGAGGACGAGAAGGAGTCATTGTCGGCGTCCTCGTCCTCATCCGCGTCATCATCCTCGGGGTCCTCAACCACCTCACCCTCGTCCTCGGCCTCCGACAAGGAGGAGGAACAGGAGAGCACCGAGGAGGAAGAGGAGGCGGAGGAGGAGGAGGAGGAGGAAGTCCCCAGGAGCCAGCTCTCCTCCTCCTCAACCTCATCCACATCAGATAAGGTGCCTAGCAGGCCAGGAAGCCTCAGGGGGCCGGGCCAGGCGACGAGGGCCAGACCCTTCGGCTCACCTGTCCCCACTCTTCCTTCTCCCCCAGGATGACGACGATGACGACAGTGATGACCGGGACGAGTCTGAGAACGATGACGAGGACACAGCCCTGTCAGAGGTGAGTGAGAAGGACGAAGGGGACTCGGATGAAGGTGAGCAGGGAGGCCGTGGCTGCCTGGCCCTCCCGGAGTCCCTCTTTCCCCGGGGCAGAGCCTGAGCAATTGTCAGAAATACTTCTGAGCCAAAATGTTGTGCTTTTGAGACGTTACCTTGTTAAAACACACACACAGGGTGGCGTACGGTTCCATCTTCAGGGAGTGCCGTGAACATAATGGCATGTCCATAGAAATAGAAAGCAGGTCTGTGGTCCTTAGGGCTGGGGAGCCCGGTGTTCAGGGGGGCTTGCTCAGCCTACATGGCTTCCTTTTCAACTGATAAAAATACTTAGGGACCAGATCGAGGTGGTGGTTGTGCAACATTACAAATGTACTAAATGCTGCTGGAATTATCACTTTGTAACGAGCAGTTGGCCGGACGCAGTGGCTTACACCTGTAATCCCAGCACTTTGAGAGGCCTAGGCGAGTGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGACACTCCACCTCAAAAAAAATAATAAATAAAATTTTTTTTACAAAGTGAGCAGTTTTTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAACAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGGGATCGCCCCACTGCACTCCACCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTGAGCAGTTTTCTGTTATGTTAATTTTACCTCAGTTTTTAAAAGCGACTACTAGCGGCCGGGTGTGGTGGCTCACTCCTTTAATCCCAGCACTTTGGGAGGCTGAGGCAAGTGGATCACCTGAGGTCAGGAGTTTGAAACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGTCTGGGCAACAAGAGCAAAACTCAAAAAAAAGAAAAAAAAGACTCCTAGTGAACACATGCCCCACACACATATCTGAGGGCCGTGTTCAGCCTGGGTGCCACCAGTTTGAGGCCATTGGTGAGGGGTCTGGTGGGGGCTGGGGCACAGCGGGTCCTCAGGCAGCCCCTCGTCTGTGTCCCCCATCCAGAGGAGACAGTGAGCATTGTAACCTCCAAGGCCGAAGCCACGTCGTCCAGTGAGAGTTCCGAGTCTTCTGAGTTTGAGTCAAGCTCCGAGTCCTCGCCCTCATCCTCGGAGGATGAGGAGGAGGTAGTGGCCAGGGAAGAGGAGGAAGAAGAGGAGGAGGAGGAGATGGTGGCCGAGGAAAGCATGGCTTCTGCAGGCCCTGAGGACTTTGAGCAGGACGGGGAGGAAGCGGCTCTGGCCCCGGGGGCACCTGCAGTGGACTCGTTGGGCATGGAAGAGGAGGTGGACATCGAGACTGAGGCTGTGGCCCCTGAGGAGCGGCCCTCCATGCTGGACGAGCCCCCCTTGCCTGTGGGTGTTGAAGAGCCAGCGGACTCCAGGGAGCCGCCTGAGGAACCAGGCCTGAGCCAGGAAGGGGCCATGTTGCTGTCTCCAGAGCCCCCTGCCAAGGAGGTGGAGGCTCGACCCCCATTGTCCCCTGAGCGAGCTCCAGGTAACACCTGCAACCCCCTGGGAG
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Task1_train_18883
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A mutation on Chromosome 12 affecting SETD1B (SET domain containing 1B, histone lysine methyltransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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ACTCCTGCTCCTGCCGGGCCAGCCACAGACCCCCGTCTTCCCCAGCACCCATGACCCCCGGACGGTGACCCTGGACTTCCGGAACGCGGGGATCCCAGCCCCTCCACCACCCCTTCCCCCCCAGCCACCCCCACCCCCACCTCCCCCACCTGTAGAGCCCACCAAGCTGCCCTTTAAGGAGCTAGACAACCAGTGGCCCTCCGAGGCCATTCCTCCGGGCCCCCGTGGGCGCGATGAGGTCACTGAGGAATACATGGAGTTGGCCAAGAGCCGGGGGCCGTGGCGCCGGCCACCTAAGAAGCGCCATGAGGACCTGGTGCCACCTGCGGGCTCGCCCGAACTCTCGCCACCCCAGCCCCTCTTCCGGCCCCGCTCGGAGTTTGAGGAGATGACCATCCTGTATGACATCTGGAACGGTGGCATCGATGAGGAGGACATCCGCTTCCTGTGTGTCACCTACGAGCGACTGCTACAGCAGGACAATGGCATGGACTGGCTTAACGACACGCTCTGGGTCTACCATCCCTATATCCTGCTGGCATGGGGGGCTCTGCACCTTCTGGGATGCAGGAAGTCCCTGCTCACCTCTCTGGGCCCCACCACCCAGTCTGTAGCAGCCCGCGGTGCCCATGAAGGTGACAGCATGCACCACCGTCACTTCCCAAGCAGGGTTTGTGTCCCGGCACCATGCCAGGCTCCCGAGTGAATCATTGGCACGTTTTAAGGACTCCCTCTGCGCCAGGCCCATCTCACCCCCAGAGTTAGCAGGTCTCAGGGTCACATGTAACAGCAGTGCCGTGCAGCTTAACAGCACACACGGGCGCAGGGCCTCCTTGTCCTGTCCCCTTCATAACCTCAGGTAATCCCGGTAGCCTGGTGAAGATGGGGGCTATGATTCCCATTTTACATATGAAGAAGCTAAGGCTCAGAGAGGTTCAGTGACCTGTCCAAAGACACAGCTACAGGTGGCAGAGTTGAGATTTGAACCCAGGCAAACCTGGCTCTAGAGTCCAGGCTCTTCACCACCAGGCTTTCATGAGGCTTGGCTGTTCACATAGGCCAGTGAGGCTAGACCTCTCATTATCCCTGCTGTATTAGACTGATTTGTGAGCACTCAGTTTGTGTCAAGAGCTCTGCTCAAGTGCCGGGCACCATGGCTCACAGCTGTAATCCCAGCACTATGGGAGGCTGAGGCGGACGGATCACTCGAGGCCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTAGCACATGCCTATAATTCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCACAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAACTCTGCTAAGGACCATAAGCATATTTCATCACTTGCAGAGAGGCATCACTGTCACCCCAATTTACAGATGGGAAACTGAGCAGAAAGTTGTTAAAACACCCAGCACTTTGGGAGGCCGAGGTGGATGGATCACTTGATCTCTGGAGGTTGAAGCCAGCCTGGGAAACATAGCAAAACCCCATCTCTACAAAAAAAATCCAGAAATTAGTTGGGTGTGGTGGCGCACGCCTGTAGCCCCAGCTGCTCAGAAGGCTGAGGCTGCAGTAAGCTGAGATTGCACCACTGCACTCGAGCCTGGGCAACAGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGACACCTAGAGCCATGCAACTAGGTATTGACCGTCAGCAGGGTTGGTCAGCGGGCAGCCACGTGGAGGTGGCATGGGAGTGGGCAGTAGAACTGGACATCGCTGTCCCTGAAGGGTGGTCTGAGGATGGGCGGGACCAGTCTATGAAGGGACCAGAAGGGGCTCTCAGAATGTCCATGTGGCCCTTGACCCACACCCACCCACCAGCCTCTCTTCAGCTAAGAAGAAGAAACGGGACGATGGCATCCGCGAGCACGTGACGGGCTGTGCCCGCAGTGAGGGCTTCTACACCATCGACAAGAAGGACAAGCTCAGATACCTCAACAGCAGCCGTGCCAGCACCGATGAGCCCCCCGCAGACACCCAGGTACTGCCAGGGCTCCTGGACACATCAGAGCCTGCTGGGCTGGGCCACGGGGATCCAGGGCACTCATGGAGGGGTGCCAGGCAGAGGGAGGAGTTGTGAGGCCAGAGGGGCTGGCACACAGAGGGTGCAAGTGGAAGGGGAGAGGCGGGTGGGCGGGGCCTAGGAGAAGGAAGGAGTTTGCCTTAGTCCCATGGGCCCTGGAGCACCTCCAAAGGGTTTAATTAGGGATGTGACGGAGCTGTATTTCCGCAAGTTCATTCATTTTTTGTTTTTTGCTTGGGTTTTTTTTTTAGGGGGGGACAAAGCCTTGCTCTGTCACATAGGCTGAAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTAATTCGCCTGCCTTGGTCTCCCAAACTGCTGGGATTATAAGCATAAGCCACATCGCATGGCCTCATTCATTCTTTTTTTAATCCAGTAAATATCTGTTGAGTACATGCTGTGTACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGGGATTACCAAGTCAAAGGGGAGTCAGAGAGGGTCAGACCCAGGCGAAGTGTGGGAAGGCGCCATGTGGATGCCAGAGAGACTACAGAGAAGTGAAAAAGCGACTTCCATAAAAAGTTAAAACCAGAGAGGGGCTCACTGACCCCAGCAGGCCTCCCTAGGACAGCAGCAGTGCAAAGGCCCTGAGGCAGCAGGGAGCTCCATGGTGTGAGGAAGGGAAGGGAGAGGCCACTTGTGGGAGAGACAGCACAGGCCACCAGGGTCGGGGGTACTGTGGTGGTAAGTGACCTGTCTCCTGGGGTGACAGGCAGCAGAGGGAGGTTGTGAGAGGAGCTGGGGTGGTGTGGAGCTGGTGCAGGGGTCCTGAGGGCAGACTGTTCGGGTTGCTGCGGTTTCCAGACCGGATGTGCCGGACTTAGCTGGGCCGCGAGGAGCCATTAGCTGTGGAAGAATATGAGGAAGTGGGATGGACAGGACCAGGGCTGGCCTGGGTACAGGAGACAGGGATGGGCGGGGGGTGACAGCCCAGGGTGTGGCTGGGGTCGGGGGTGCTGGGAAGCTGGACACCAGGCCTGAGATGGGGAGGCTGATATGCTATCACCACGAGGCAGCTTGAGTTCTGCGGGTTCTGAAAACACCCAGGCAGAGAGGTCTTGGTGGGCATGTGGGTATGGCGGAGCTTAGGATGGGGATCTCCGGCCCGGGGACCTAAGTGTAGGCATCGCCAGGAGAGAAGTGGTGACTGAAGGTCACAGCAGGGTGACCTCACCTGGGAGGGCACTTGGGGCAGAGGCCTGGGATGCTCCAAAGGTTAATGGCTGGGGCAGAGGCCCAGGGAGGCCAAGAGCAGGACGTGACACAAGGGTTTCGGAAGGATCCCCGATTTTGAACGCTTGTGGGGTGAGAGGGGTCTGGGTGAGAGCCAAGGAGGGGGTCAGGGTAGACAAAACTTTCGGCTGAAATGGGGAAAAGACAGCGCCAGGCAAGAGTGAGTCTCGTCGTTTT
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ACTCCTGCTCCTGCCGGGCCAGCCACAGACCCCCGTCTTCCCCAGCACCCATGACCCCCGGACGGTGACCCTGGACTTCCGGAACGCGGGGATCCCAGCCCCTCCACCACCCCTTCCCCCCCAGCCACCCCCACCCCCACCTCCCCCACCTGTAGAGCCCACCAAGCTGCCCTTTAAGGAGCTAGACAACCAGTGGCCCTCCGAGGCCATTCCTCCGGGCCCCCGTGGGCGCGATGAGGTCACTGAGGAATACATGGAGTTGGCCAAGAGCCGGGGGCCGTGGCGCCGGCCACCTAAGAAGCGCCATGAGGACCTGGTGCCACCTGCGGGCTCGCCCGAACTCTCGCCACCCCAGCCCCTCTTCCGGCCCCGCTCGGAGTTTGAGGAGATGACCATCCTGTATGACATCTGGAACGGTGGCATCGATGAGGAGGACATCCGCTTCCTGTGTGTCACCTACGAGCGACTGCTACAGCAGGACAATGGCATGGACTGGCTTAACGACACGCTCTGGGTCTACCATCCCTATATCCTGCTGGCATGGGGGGCTCTGCACCTTCTGGGATGCAGGAAGTCCCTGCTCACCTCTCTGGGCCCCACCACCCAGTCTGTAGCAGCCCGCGGTGCCCATGAAGGTGACAGCATGCACCACCGTCACTTCCCAAGCAGGGTTTGTGTCCCGGCACCATGCCAGGCTCCCGAGTGAATCATTGGCACGTTTTAAGGACTCCCTCTGCGCCAGGCCCATCTCACCCCCAGAGTTAGCAGGTCTCAGGGTCACATGTAACAGCAGTGCCGTGCAGCTTAACAGCACACACGGGCGCAGGGCCTCCTTGTCCTGTCCCCTTCATAACCTCAGGTAATCCCGGTAGCCTGGTGAAGATGGGGGCTATGATTCCCATTTTACATATGAAGAAGCTAAGGCTCAGAGAGGTTCAGTGACCTGTCCAAAGACACAGCTACAGGTGGCAGAGTTGAGATTTGAACCCAGGCAAACCTGGCTCTAGAGTCCAGGCTCTTCACCACCAGGCTTTCATGAGGCTTGGCTGTTCACATAGGCCAGTGAGGCTAGACCTCTCATTATCCCTGCTGTATTAGACTGATTTGTGAGCACTCAGTTTGTGTCAAGAGCTCTGCTCAAGTGCCGGGCACCATGGCTCACAGCTGTAATCCCAGCACTATGGGAGGCTGAGGCGGACGGATCACTCGAGGCCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTAGCACATGCCTATAATTCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCACAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAACTCTGCTAAGGACCATAAGCATATTTCATCACTTGCAGAGAGGCATCACTGTCACCCCAATTTACAGATGGGAAACTGAGCAGAAAGTTGTTAAAACACCCAGCACTTTGGGAGGCCGAGGTGGATGGATCACTTGATCTCTGGAGGTTGAAGCCAGCCTGGGAAACATAGCAAAACCCCATCTCTACAAAAAAAATCCAGAAATTAGTTGGGTGTGGTGGCGCACGCCTGTAGCCCCAGCTGCTCAGAAGGCTGAGGCTGCAGTAAGCTGAGATTGCACCACTGCACTCGAGCCTGGGCAACAGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGACACCTAGAGCCATGCAACTAGGTATTGACCGTCAGCAGGGTTGGTCAGCGGGCAGCCACGTGGAGGTGGCATGGGAGTGGGCAGTAGAACTGGACATCGCTGTCCCTGAAGGGTGGTCTGAGGATGGGCGGGACCAGTCTATGAAGGGACCAGAAGGGGCTCTCAGAATGTCCATGTGGCCCTTGACCCACACCCACCCACCAGCCTCTCTTCAGCTAAGAAGAAGAAACGGGACGATGGCATCCGCGAGCACGTGACGGGCTGTGCCTGCAGTGAGGGCTTCTACACCATCGACAAGAAGGACAAGCTCAGATACCTCAACAGCAGCCGTGCCAGCACCGATGAGCCCCCCGCAGACACCCAGGTACTGCCAGGGCTCCTGGACACATCAGAGCCTGCTGGGCTGGGCCACGGGGATCCAGGGCACTCATGGAGGGGTGCCAGGCAGAGGGAGGAGTTGTGAGGCCAGAGGGGCTGGCACACAGAGGGTGCAAGTGGAAGGGGAGAGGCGGGTGGGCGGGGCCTAGGAGAAGGAAGGAGTTTGCCTTAGTCCCATGGGCCCTGGAGCACCTCCAAAGGGTTTAATTAGGGATGTGACGGAGCTGTATTTCCGCAAGTTCATTCATTTTTTGTTTTTTGCTTGGGTTTTTTTTTTAGGGGGGGACAAAGCCTTGCTCTGTCACATAGGCTGAAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTAATTCGCCTGCCTTGGTCTCCCAAACTGCTGGGATTATAAGCATAAGCCACATCGCATGGCCTCATTCATTCTTTTTTTAATCCAGTAAATATCTGTTGAGTACATGCTGTGTACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGGGATTACCAAGTCAAAGGGGAGTCAGAGAGGGTCAGACCCAGGCGAAGTGTGGGAAGGCGCCATGTGGATGCCAGAGAGACTACAGAGAAGTGAAAAAGCGACTTCCATAAAAAGTTAAAACCAGAGAGGGGCTCACTGACCCCAGCAGGCCTCCCTAGGACAGCAGCAGTGCAAAGGCCCTGAGGCAGCAGGGAGCTCCATGGTGTGAGGAAGGGAAGGGAGAGGCCACTTGTGGGAGAGACAGCACAGGCCACCAGGGTCGGGGGTACTGTGGTGGTAAGTGACCTGTCTCCTGGGGTGACAGGCAGCAGAGGGAGGTTGTGAGAGGAGCTGGGGTGGTGTGGAGCTGGTGCAGGGGTCCTGAGGGCAGACTGTTCGGGTTGCTGCGGTTTCCAGACCGGATGTGCCGGACTTAGCTGGGCCGCGAGGAGCCATTAGCTGTGGAAGAATATGAGGAAGTGGGATGGACAGGACCAGGGCTGGCCTGGGTACAGGAGACAGGGATGGGCGGGGGGTGACAGCCCAGGGTGTGGCTGGGGTCGGGGGTGCTGGGAAGCTGGACACCAGGCCTGAGATGGGGAGGCTGATATGCTATCACCACGAGGCAGCTTGAGTTCTGCGGGTTCTGAAAACACCCAGGCAGAGAGGTCTTGGTGGGCATGTGGGTATGGCGGAGCTTAGGATGGGGATCTCCGGCCCGGGGACCTAAGTGTAGGCATCGCCAGGAGAGAAGTGGTGACTGAAGGTCACAGCAGGGTGACCTCACCTGGGAGGGCACTTGGGGCAGAGGCCTGGGATGCTCCAAAGGTTAATGGCTGGGGCAGAGGCCCAGGGAGGCCAAGAGCAGGACGTGACACAAGGGTTTCGGAAGGATCCCCGATTTTGAACGCTTGTGGGGTGAGAGGGGTCTGGGTGAGAGCCAAGGAGGGGGTCAGGGTAGACAAAACTTTCGGCTGAAATGGGGAAAAGACAGCGCCAGGCAAGAGTGAGTCTCGTCGTTTT
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Task1_train_18884
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Gene SETD1B (SET domain containing 1B, histone lysine methyltransferase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Intellectual developmental disorder with seizures and language delay
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GGGCGGGGCCTAGGAGAAGGAAGGAGTTTGCCTTAGTCCCATGGGCCCTGGAGCACCTCCAAAGGGTTTAATTAGGGATGTGACGGAGCTGTATTTCCGCAAGTTCATTCATTTTTTGTTTTTTGCTTGGGTTTTTTTTTTAGGGGGGGACAAAGCCTTGCTCTGTCACATAGGCTGAAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTAATTCGCCTGCCTTGGTCTCCCAAACTGCTGGGATTATAAGCATAAGCCACATCGCATGGCCTCATTCATTCTTTTTTTAATCCAGTAAATATCTGTTGAGTACATGCTGTGTACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGGGATTACCAAGTCAAAGGGGAGTCAGAGAGGGTCAGACCCAGGCGAAGTGTGGGAAGGCGCCATGTGGATGCCAGAGAGACTACAGAGAAGTGAAAAAGCGACTTCCATAAAAAGTTAAAACCAGAGAGGGGCTCACTGACCCCAGCAGGCCTCCCTAGGACAGCAGCAGTGCAAAGGCCCTGAGGCAGCAGGGAGCTCCATGGTGTGAGGAAGGGAAGGGAGAGGCCACTTGTGGGAGAGACAGCACAGGCCACCAGGGTCGGGGGTACTGTGGTGGTAAGTGACCTGTCTCCTGGGGTGACAGGCAGCAGAGGGAGGTTGTGAGAGGAGCTGGGGTGGTGTGGAGCTGGTGCAGGGGTCCTGAGGGCAGACTGTTCGGGTTGCTGCGGTTTCCAGACCGGATGTGCCGGACTTAGCTGGGCCGCGAGGAGCCATTAGCTGTGGAAGAATATGAGGAAGTGGGATGGACAGGACCAGGGCTGGCCTGGGTACAGGAGACAGGGATGGGCGGGGGGTGACAGCCCAGGGTGTGGCTGGGGTCGGGGGTGCTGGGAAGCTGGACACCAGGCCTGAGATGGGGAGGCTGATATGCTATCACCACGAGGCAGCTTGAGTTCTGCGGGTTCTGAAAACACCCAGGCAGAGAGGTCTTGGTGGGCATGTGGGTATGGCGGAGCTTAGGATGGGGATCTCCGGCCCGGGGACCTAAGTGTAGGCATCGCCAGGAGAGAAGTGGTGACTGAAGGTCACAGCAGGGTGACCTCACCTGGGAGGGCACTTGGGGCAGAGGCCTGGGATGCTCCAAAGGTTAATGGCTGGGGCAGAGGCCCAGGGAGGCCAAGAGCAGGACGTGACACAAGGGTTTCGGAAGGATCCCCGATTTTGAACGCTTGTGGGGTGAGAGGGGTCTGGGTGAGAGCCAAGGAGGGGGTCAGGGTAGACAAAACTTTCGGCTGAAATGGGGAAAAGACAGCGCCAGGCAAGAGTGAGTCTCGTCGTTTTGAAGATAGAAGGAGCTTGAGACGCTCAGATACTGATGGGATGGAGGAGGCAGGGAAGCGGTGACAATTAGGGACCGACAGGTGTGGAGAAGCCCAGAGCAAGGAGCCCAGGACACTGGGGATGACAGAGATCCAGAGCCTAGGGTGGGACCGCCGAGGACACGGCCAGCTCCGCTGAGCCCCGCACACCGTCCACTGCAGGGCATGAGCATCCCAGCACAGCCCCACGCCTCCACCCGGGCAGGCTCGGAGCGGCGTTCGGAGCAGCGCCGCCTGCTGTCCTCCTTCACTGGCAGCTGTGACAGTGACCTGCTCAAGTTCAACCAGCTCAAGGTGAGGCCGGGCTTCACCCAGATCGCCGGGGTGGCGGCAGGACCTGAGACCGGGGCTCACCTCTCCCCCTCTTCCCTCCCACAGTTCCGGAAGAAAAAGCTCAAGTTCTGCAAGAGCCACATTCACGACTGGGGCTTGTTCGCCATGGAGCCCATCGCGGCTGACGAGATGGTCATCGAGTACGTGGGCCAGAATATCCGTCAGGTAGGCACCGCCCGGCAGGATGGGCACCGGGGTGGGCATGGGGCCGGCCCAGCCAGACTGACCCCCTTTTGTGGCCAGGTGATCGCAGACATGCGGGAGAAGCGTTATGAGGACGAGGGCATCGGGAGCAGCTACATGTTCCGGGTGGACCATGACACCATCATCGACGCCACCAAGTGCGGCAACTTCGCGCGCTTCATCAACCACAGCTGCAACGTGAGTGCCCAGCGGGGGGTGGCCCCTGCCCCTGCTCCTGCCCCTGGCCCTGCTTCTGTGCCAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTGCACTGCGTGCATCTGTGCTGTGGGTTAGCCACATGTGTGGTGGTGAGCACTGGAAATGTGCCCAGTGCATCTGGGGACCTGAGTTTTAAATTTTATTTCATTTTGATGAATTTAAACTTAATTAGCTTGTGACGACTGTATTGGGTGGTGCAGGCCTAGAGGGGAGGGACACTGATAACAGGGATTTGAGTGCTGAAGGAAGAGCACAGGAAGCTCTGAGCAGGAGGCAGGCATGTTCCGGGGTGGATGCCCCTGACTTTGGGTTCAAGTCTTGGCATTGCAGCTTAGTGAGTTACTTAATGTCTCTTATGCCTGAGTTTCCTTGTCTGTAAAACAGAGACAATAACAGTCTCTCCTTTTAGGTTGTTGGGAGGGCCACATAGGTGGGTCACTGCACGTGGGCCATTTGAGTGCTGGCCAGGCCAGTCCTCAGCGCCTGCTGGCTCTCTTCGTTGTGACTTGATCCTTGCCTGGGTGGTAGGGACTTTCCTGTGAATATCCGGGGAGATCTGAGGGGTGAGAGGGAATTGCCCAGGGGAAGCGGTGCTGGGGCAAGGGGAACTGCGTGTTCAAAGGCCCTGGGGCAGTTGGGAGAACACCTGTTTGAGAGATAGCAAGGGAGGCAGTGGGCATGGGGTGGGGTAAGAGGATGGGGTGGGCAGGGCTGAGGGTGGCCAAGCTGAGGAACTAAGTTTCTCTGAGAGCCAAGGTCGCTGGAAGGTTGGAGCCATCGGGCAACAGGTTCTGCTATCCCTTTGGAAACGTTTCCCTGGCTGCTGGGGCAGGAGTGGATTTTTTCAGGGGTGAGAGTGGCCAAGGGGGCTGTAGCAGGCGGGTGAGCAGTGATGGGGGCCTGAGCGTGGCTGGTGGCCCCAGAAGTGGAGAGCAGTAGACACAACCAAGAGGCCCTTCCGGGACTGAACTCACCGGCCCTGGTTGGGGCCAGATCTGGACTGAAGGAGGCAGGGAGGCAGATGCTCTGGGGCCTGGGTGTGTGGTGCAGCGGCTGCCCAGAGCAGGAGCAGATCATGCTTTAGGTGTGAGCTAAGTCAAAGACAGTACCCAGGGCTGCCACTGGCAGACAGCAGGTAGTTGCATTTATGGGCTTGGAGGCCTTTACCTTTTCTGTAAAGGGCCAGATAATAAATGTTTTTGGCTTGG
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GGGCGGGGCCTAGGAGAAGGAAGGAGTTTGCCTTAGTCCCATGGGCCCTGGAGCACCTCCAAAGGGTTTAATTAGGGATGTGACGGAGCTGTATTTCCGCAAGTTCATTCATTTTTTGTTTTTTGCTTGGGTTTTTTTTTTAGGGGGGGACAAAGCCTTGCTCTGTCACATAGGCTGAAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTAATTCGCCTGCCTTGGTCTCCCAAACTGCTGGGATTATAAGCATAAGCCACATCGCATGGCCTCATTCATTCTTTTTTTAATCCAGTAAATATCTGTTGAGTACATGCTGTGTACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGGGATTACCAAGTCAAAGGGGAGTCAGAGAGGGTCAGACCCAGGCGAAGTGTGGGAAGGCGCCATGTGGATGCCAGAGAGACTACAGAGAAGTGAAAAAGCGACTTCCATAAAAAGTTAAAACCAGAGAGGGGCTCACTGACCCCAGCAGGCCTCCCTAGGACAGCAGCAGTGCAAAGGCCCTGAGGCAGCAGGGAGCTCCATGGTGTGAGGAAGGGAAGGGAGAGGCCACTTGTGGGAGAGACAGCACAGGCCACCAGGGTCGGGGGTACTGTGGTGGTAAGTGACCTGTCTCCTGGGGTGACAGGCAGCAGAGGGAGGTTGTGAGAGGAGCTGGGGTGGTGTGGAGCTGGTGCAGGGGTCCTGAGGGCAGACTGTTCGGGTTGCTGCGGTTTCCAGACCGGATGTGCCGGACTTAGCTGGGCCGCGAGGAGCCATTAGCTGTGGAAGAATATGAGGAAGTGGGATGGACAGGACCAGGGCTGGCCTGGGTACAGGAGACAGGGATGGGCGGGGGGTGACAGCCCAGGGTGTGGCTGGGGTCGGGGGTGCTGGGAAGCTGGACACCAGGCCTGAGATGGGGAGGCTGATATGCTATCACCACGAGGCAGCTTGAGTTCTGCGGGTTCTGAAAACACCCAGGCAGAGAGGTCTTGGTGGGCATGTGGGTATGGCGGAGCTTAGGATGGGGATCTCCGGCCCGGGGACCTAAGTGTAGGCATCGCCAGGAGAGAAGTGGTGACTGAAGGTCACAGCAGGGTGACCTCACCTGGGAGGGCACTTGGGGCAGAGGCCTGGGATGCTCCAAAGGTTAATGGCTGGGGCAGAGGCCCAGGGAGGCCAAGAGCAGGACGTGACACAAGGGTTTCGGAAGGATCCCCGATTTTGAACGCTTGTGGGGTGAGAGGGGTCTGGGTGAGAGCCAAGGAGGGGGTCAGGGTAGACAAAACTTTCGGCTGAAATGGGGAAAAGACAGCGCCAGGCAAGAGTGAGTCTCGTCGTTTTGAAGATAGAAGGAGCTTGAGACGCTCAGATACTGATGGGATGGAGGAGGCAGGGAAGCGGTGACAATTAGGGACCGACAGGTGTGGAGAAGCCCAGAGCAAGGAGCCCAGGACACTGGGGATGACAGAGATCCAGAGCCTAGGGTGGGACCGCCGAGGACACGGCCAGCTCCGCTGAGCCCCGCACACCGTCCACTGCAGGGCATGAGCATCCCAGCACAGCCCCACGCCTCCACCCGGGCAGGCTTGGAGCGGCGTTCGGAGCAGCGCCGCCTGCTGTCCTCCTTCACTGGCAGCTGTGACAGTGACCTGCTCAAGTTCAACCAGCTCAAGGTGAGGCCGGGCTTCACCCAGATCGCCGGGGTGGCGGCAGGACCTGAGACCGGGGCTCACCTCTCCCCCTCTTCCCTCCCACAGTTCCGGAAGAAAAAGCTCAAGTTCTGCAAGAGCCACATTCACGACTGGGGCTTGTTCGCCATGGAGCCCATCGCGGCTGACGAGATGGTCATCGAGTACGTGGGCCAGAATATCCGTCAGGTAGGCACCGCCCGGCAGGATGGGCACCGGGGTGGGCATGGGGCCGGCCCAGCCAGACTGACCCCCTTTTGTGGCCAGGTGATCGCAGACATGCGGGAGAAGCGTTATGAGGACGAGGGCATCGGGAGCAGCTACATGTTCCGGGTGGACCATGACACCATCATCGACGCCACCAAGTGCGGCAACTTCGCGCGCTTCATCAACCACAGCTGCAACGTGAGTGCCCAGCGGGGGGTGGCCCCTGCCCCTGCTCCTGCCCCTGGCCCTGCTTCTGTGCCAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTGCACTGCGTGCATCTGTGCTGTGGGTTAGCCACATGTGTGGTGGTGAGCACTGGAAATGTGCCCAGTGCATCTGGGGACCTGAGTTTTAAATTTTATTTCATTTTGATGAATTTAAACTTAATTAGCTTGTGACGACTGTATTGGGTGGTGCAGGCCTAGAGGGGAGGGACACTGATAACAGGGATTTGAGTGCTGAAGGAAGAGCACAGGAAGCTCTGAGCAGGAGGCAGGCATGTTCCGGGGTGGATGCCCCTGACTTTGGGTTCAAGTCTTGGCATTGCAGCTTAGTGAGTTACTTAATGTCTCTTATGCCTGAGTTTCCTTGTCTGTAAAACAGAGACAATAACAGTCTCTCCTTTTAGGTTGTTGGGAGGGCCACATAGGTGGGTCACTGCACGTGGGCCATTTGAGTGCTGGCCAGGCCAGTCCTCAGCGCCTGCTGGCTCTCTTCGTTGTGACTTGATCCTTGCCTGGGTGGTAGGGACTTTCCTGTGAATATCCGGGGAGATCTGAGGGGTGAGAGGGAATTGCCCAGGGGAAGCGGTGCTGGGGCAAGGGGAACTGCGTGTTCAAAGGCCCTGGGGCAGTTGGGAGAACACCTGTTTGAGAGATAGCAAGGGAGGCAGTGGGCATGGGGTGGGGTAAGAGGATGGGGTGGGCAGGGCTGAGGGTGGCCAAGCTGAGGAACTAAGTTTCTCTGAGAGCCAAGGTCGCTGGAAGGTTGGAGCCATCGGGCAACAGGTTCTGCTATCCCTTTGGAAACGTTTCCCTGGCTGCTGGGGCAGGAGTGGATTTTTTCAGGGGTGAGAGTGGCCAAGGGGGCTGTAGCAGGCGGGTGAGCAGTGATGGGGGCCTGAGCGTGGCTGGTGGCCCCAGAAGTGGAGAGCAGTAGACACAACCAAGAGGCCCTTCCGGGACTGAACTCACCGGCCCTGGTTGGGGCCAGATCTGGACTGAAGGAGGCAGGGAGGCAGATGCTCTGGGGCCTGGGTGTGTGGTGCAGCGGCTGCCCAGAGCAGGAGCAGATCATGCTTTAGGTGTGAGCTAAGTCAAAGACAGTACCCAGGGCTGCCACTGGCAGACAGCAGGTAGTTGCATTTATGGGCTTGGAGGCCTTTACCTTTTCTGTAAAGGGCCAGATAATAAATGTTTTTGGCTTGG
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Task1_train_18885
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Gene SETD1B (SET domain containing 1B, histone lysine methyltransferase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; not provided
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CTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTAATTCGCCTGCCTTGGTCTCCCAAACTGCTGGGATTATAAGCATAAGCCACATCGCATGGCCTCATTCATTCTTTTTTTAATCCAGTAAATATCTGTTGAGTACATGCTGTGTACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGGGATTACCAAGTCAAAGGGGAGTCAGAGAGGGTCAGACCCAGGCGAAGTGTGGGAAGGCGCCATGTGGATGCCAGAGAGACTACAGAGAAGTGAAAAAGCGACTTCCATAAAAAGTTAAAACCAGAGAGGGGCTCACTGACCCCAGCAGGCCTCCCTAGGACAGCAGCAGTGCAAAGGCCCTGAGGCAGCAGGGAGCTCCATGGTGTGAGGAAGGGAAGGGAGAGGCCACTTGTGGGAGAGACAGCACAGGCCACCAGGGTCGGGGGTACTGTGGTGGTAAGTGACCTGTCTCCTGGGGTGACAGGCAGCAGAGGGAGGTTGTGAGAGGAGCTGGGGTGGTGTGGAGCTGGTGCAGGGGTCCTGAGGGCAGACTGTTCGGGTTGCTGCGGTTTCCAGACCGGATGTGCCGGACTTAGCTGGGCCGCGAGGAGCCATTAGCTGTGGAAGAATATGAGGAAGTGGGATGGACAGGACCAGGGCTGGCCTGGGTACAGGAGACAGGGATGGGCGGGGGGTGACAGCCCAGGGTGTGGCTGGGGTCGGGGGTGCTGGGAAGCTGGACACCAGGCCTGAGATGGGGAGGCTGATATGCTATCACCACGAGGCAGCTTGAGTTCTGCGGGTTCTGAAAACACCCAGGCAGAGAGGTCTTGGTGGGCATGTGGGTATGGCGGAGCTTAGGATGGGGATCTCCGGCCCGGGGACCTAAGTGTAGGCATCGCCAGGAGAGAAGTGGTGACTGAAGGTCACAGCAGGGTGACCTCACCTGGGAGGGCACTTGGGGCAGAGGCCTGGGATGCTCCAAAGGTTAATGGCTGGGGCAGAGGCCCAGGGAGGCCAAGAGCAGGACGTGACACAAGGGTTTCGGAAGGATCCCCGATTTTGAACGCTTGTGGGGTGAGAGGGGTCTGGGTGAGAGCCAAGGAGGGGGTCAGGGTAGACAAAACTTTCGGCTGAAATGGGGAAAAGACAGCGCCAGGCAAGAGTGAGTCTCGTCGTTTTGAAGATAGAAGGAGCTTGAGACGCTCAGATACTGATGGGATGGAGGAGGCAGGGAAGCGGTGACAATTAGGGACCGACAGGTGTGGAGAAGCCCAGAGCAAGGAGCCCAGGACACTGGGGATGACAGAGATCCAGAGCCTAGGGTGGGACCGCCGAGGACACGGCCAGCTCCGCTGAGCCCCGCACACCGTCCACTGCAGGGCATGAGCATCCCAGCACAGCCCCACGCCTCCACCCGGGCAGGCTCGGAGCGGCGTTCGGAGCAGCGCCGCCTGCTGTCCTCCTTCACTGGCAGCTGTGACAGTGACCTGCTCAAGTTCAACCAGCTCAAGGTGAGGCCGGGCTTCACCCAGATCGCCGGGGTGGCGGCAGGACCTGAGACCGGGGCTCACCTCTCCCCCTCTTCCCTCCCACAGTTCCGGAAGAAAAAGCTCAAGTTCTGCAAGAGCCACATTCACGACTGGGGCTTGTTCGCCATGGAGCCCATCGCGGCTGACGAGATGGTCATCGAGTACGTGGGCCAGAATATCCGTCAGGTAGGCACCGCCCGGCAGGATGGGCACCGGGGTGGGCATGGGGCCGGCCCAGCCAGACTGACCCCCTTTTGTGGCCAGGTGATCGCAGACATGCGGGAGAAGCGTTATGAGGACGAGGGCATCGGGAGCAGCTACATGTTCCGGGTGGACCATGACACCATCATCGACGCCACCAAGTGCGGCAACTTCGCGCGCTTCATCAACCACAGCTGCAACGTGAGTGCCCAGCGGGGGGTGGCCCCTGCCCCTGCTCCTGCCCCTGGCCCTGCTTCTGTGCCAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTGCACTGCGTGCATCTGTGCTGTGGGTTAGCCACATGTGTGGTGGTGAGCACTGGAAATGTGCCCAGTGCATCTGGGGACCTGAGTTTTAAATTTTATTTCATTTTGATGAATTTAAACTTAATTAGCTTGTGACGACTGTATTGGGTGGTGCAGGCCTAGAGGGGAGGGACACTGATAACAGGGATTTGAGTGCTGAAGGAAGAGCACAGGAAGCTCTGAGCAGGAGGCAGGCATGTTCCGGGGTGGATGCCCCTGACTTTGGGTTCAAGTCTTGGCATTGCAGCTTAGTGAGTTACTTAATGTCTCTTATGCCTGAGTTTCCTTGTCTGTAAAACAGAGACAATAACAGTCTCTCCTTTTAGGTTGTTGGGAGGGCCACATAGGTGGGTCACTGCACGTGGGCCATTTGAGTGCTGGCCAGGCCAGTCCTCAGCGCCTGCTGGCTCTCTTCGTTGTGACTTGATCCTTGCCTGGGTGGTAGGGACTTTCCTGTGAATATCCGGGGAGATCTGAGGGGTGAGAGGGAATTGCCCAGGGGAAGCGGTGCTGGGGCAAGGGGAACTGCGTGTTCAAAGGCCCTGGGGCAGTTGGGAGAACACCTGTTTGAGAGATAGCAAGGGAGGCAGTGGGCATGGGGTGGGGTAAGAGGATGGGGTGGGCAGGGCTGAGGGTGGCCAAGCTGAGGAACTAAGTTTCTCTGAGAGCCAAGGTCGCTGGAAGGTTGGAGCCATCGGGCAACAGGTTCTGCTATCCCTTTGGAAACGTTTCCCTGGCTGCTGGGGCAGGAGTGGATTTTTTCAGGGGTGAGAGTGGCCAAGGGGGCTGTAGCAGGCGGGTGAGCAGTGATGGGGGCCTGAGCGTGGCTGGTGGCCCCAGAAGTGGAGAGCAGTAGACACAACCAAGAGGCCCTTCCGGGACTGAACTCACCGGCCCTGGTTGGGGCCAGATCTGGACTGAAGGAGGCAGGGAGGCAGATGCTCTGGGGCCTGGGTGTGTGGTGCAGCGGCTGCCCAGAGCAGGAGCAGATCATGCTTTAGGTGTGAGCTAAGTCAAAGACAGTACCCAGGGCTGCCACTGGCAGACAGCAGGTAGTTGCATTTATGGGCTTGGAGGCCTTTACCTTTTCTGTAAAGGGCCAGATAATAAATGTTTTTGGCTTGGTGGCTCAGATGATCTCTATGGCAACTACTGAACTTGGCTATTGTAACAAAAGCAGCCACAAATTATATGCAAATGAATGGGAGAATGGATATGGCTATGTGCCAGTAAAACTTTATTTACAAAAACAGGCTGCTAGGGGCTATAGTTTGCTGACCCTTTTTTTAGAGCTCAGAAGTGAGACCTGAGCTAAAAATAGACATACATTTGGGAGGCACTTGTACTACGAATGGAAATGAAAGGCCTGGGAAATA
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CTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTAATTCGCCTGCCTTGGTCTCCCAAACTGCTGGGATTATAAGCATAAGCCACATCGCATGGCCTCATTCATTCTTTTTTTAATCCAGTAAATATCTGTTGAGTACATGCTGTGTACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGGGATTACCAAGTCAAAGGGGAGTCAGAGAGGGTCAGACCCAGGCGAAGTGTGGGAAGGCGCCATGTGGATGCCAGAGAGACTACAGAGAAGTGAAAAAGCGACTTCCATAAAAAGTTAAAACCAGAGAGGGGCTCACTGACCCCAGCAGGCCTCCCTAGGACAGCAGCAGTGCAAAGGCCCTGAGGCAGCAGGGAGCTCCATGGTGTGAGGAAGGGAAGGGAGAGGCCACTTGTGGGAGAGACAGCACAGGCCACCAGGGTCGGGGGTACTGTGGTGGTAAGTGACCTGTCTCCTGGGGTGACAGGCAGCAGAGGGAGGTTGTGAGAGGAGCTGGGGTGGTGTGGAGCTGGTGCAGGGGTCCTGAGGGCAGACTGTTCGGGTTGCTGCGGTTTCCAGACCGGATGTGCCGGACTTAGCTGGGCCGCGAGGAGCCATTAGCTGTGGAAGAATATGAGGAAGTGGGATGGACAGGACCAGGGCTGGCCTGGGTACAGGAGACAGGGATGGGCGGGGGGTGACAGCCCAGGGTGTGGCTGGGGTCGGGGGTGCTGGGAAGCTGGACACCAGGCCTGAGATGGGGAGGCTGATATGCTATCACCACGAGGCAGCTTGAGTTCTGCGGGTTCTGAAAACACCCAGGCAGAGAGGTCTTGGTGGGCATGTGGGTATGGCGGAGCTTAGGATGGGGATCTCCGGCCCGGGGACCTAAGTGTAGGCATCGCCAGGAGAGAAGTGGTGACTGAAGGTCACAGCAGGGTGACCTCACCTGGGAGGGCACTTGGGGCAGAGGCCTGGGATGCTCCAAAGGTTAATGGCTGGGGCAGAGGCCCAGGGAGGCCAAGAGCAGGACGTGACACAAGGGTTTCGGAAGGATCCCCGATTTTGAACGCTTGTGGGGTGAGAGGGGTCTGGGTGAGAGCCAAGGAGGGGGTCAGGGTAGACAAAACTTTCGGCTGAAATGGGGAAAAGACAGCGCCAGGCAAGAGTGAGTCTCGTCGTTTTGAAGATAGAAGGAGCTTGAGACGCTCAGATACTGATGGGATGGAGGAGGCAGGGAAGCGGTGACAATTAGGGACCGACAGGTGTGGAGAAGCCCAGAGCAAGGAGCCCAGGACACTGGGGATGACAGAGATCCAGAGCCTAGGGTGGGACCGCCGAGGACACGGCCAGCTCCGCTGAGCCCCGCACACCGTCCACTGCAGGGCATGAGCATCCCAGCACAGCCCCACGCCTCCACCCGGGCAGGCTCGGAGCGGCGTTCGGAGCAGCGCCGCCTGCTGTCCTCCTTCACTGGCAGCTGTGACAGTGACCTGCTCAAGTTCAACCAGCTCAAGGTGAGGCCGGGCTTCACCCAGATCGCCGGGGTGGCGGCAGGACCTGAGACCGGGGCTCACCTCTCCCCCTCTTCCCTCCCACAGTTCCGGAAGAAAAAGCTCAAGTTCTGCAAGAGCCACATTCACGACTGGGGCTTGTTCGCCATGGAGCCCATCGCGGCTGACAAGATGGTCATCGAGTACGTGGGCCAGAATATCCGTCAGGTAGGCACCGCCCGGCAGGATGGGCACCGGGGTGGGCATGGGGCCGGCCCAGCCAGACTGACCCCCTTTTGTGGCCAGGTGATCGCAGACATGCGGGAGAAGCGTTATGAGGACGAGGGCATCGGGAGCAGCTACATGTTCCGGGTGGACCATGACACCATCATCGACGCCACCAAGTGCGGCAACTTCGCGCGCTTCATCAACCACAGCTGCAACGTGAGTGCCCAGCGGGGGGTGGCCCCTGCCCCTGCTCCTGCCCCTGGCCCTGCTTCTGTGCCAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTGCACTGCGTGCATCTGTGCTGTGGGTTAGCCACATGTGTGGTGGTGAGCACTGGAAATGTGCCCAGTGCATCTGGGGACCTGAGTTTTAAATTTTATTTCATTTTGATGAATTTAAACTTAATTAGCTTGTGACGACTGTATTGGGTGGTGCAGGCCTAGAGGGGAGGGACACTGATAACAGGGATTTGAGTGCTGAAGGAAGAGCACAGGAAGCTCTGAGCAGGAGGCAGGCATGTTCCGGGGTGGATGCCCCTGACTTTGGGTTCAAGTCTTGGCATTGCAGCTTAGTGAGTTACTTAATGTCTCTTATGCCTGAGTTTCCTTGTCTGTAAAACAGAGACAATAACAGTCTCTCCTTTTAGGTTGTTGGGAGGGCCACATAGGTGGGTCACTGCACGTGGGCCATTTGAGTGCTGGCCAGGCCAGTCCTCAGCGCCTGCTGGCTCTCTTCGTTGTGACTTGATCCTTGCCTGGGTGGTAGGGACTTTCCTGTGAATATCCGGGGAGATCTGAGGGGTGAGAGGGAATTGCCCAGGGGAAGCGGTGCTGGGGCAAGGGGAACTGCGTGTTCAAAGGCCCTGGGGCAGTTGGGAGAACACCTGTTTGAGAGATAGCAAGGGAGGCAGTGGGCATGGGGTGGGGTAAGAGGATGGGGTGGGCAGGGCTGAGGGTGGCCAAGCTGAGGAACTAAGTTTCTCTGAGAGCCAAGGTCGCTGGAAGGTTGGAGCCATCGGGCAACAGGTTCTGCTATCCCTTTGGAAACGTTTCCCTGGCTGCTGGGGCAGGAGTGGATTTTTTCAGGGGTGAGAGTGGCCAAGGGGGCTGTAGCAGGCGGGTGAGCAGTGATGGGGGCCTGAGCGTGGCTGGTGGCCCCAGAAGTGGAGAGCAGTAGACACAACCAAGAGGCCCTTCCGGGACTGAACTCACCGGCCCTGGTTGGGGCCAGATCTGGACTGAAGGAGGCAGGGAGGCAGATGCTCTGGGGCCTGGGTGTGTGGTGCAGCGGCTGCCCAGAGCAGGAGCAGATCATGCTTTAGGTGTGAGCTAAGTCAAAGACAGTACCCAGGGCTGCCACTGGCAGACAGCAGGTAGTTGCATTTATGGGCTTGGAGGCCTTTACCTTTTCTGTAAAGGGCCAGATAATAAATGTTTTTGGCTTGGTGGCTCAGATGATCTCTATGGCAACTACTGAACTTGGCTATTGTAACAAAAGCAGCCACAAATTATATGCAAATGAATGGGAGAATGGATATGGCTATGTGCCAGTAAAACTTTATTTACAAAAACAGGCTGCTAGGGGCTATAGTTTGCTGACCCTTTTTTTAGAGCTCAGAAGTGAGACCTGAGCTAAAAATAGACATACATTTGGGAGGCACTTGTACTACGAATGGAAATGAAAGGCCTGGGAAATA
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Task1_train_18886
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A mutation found in SETD1B (SET domain containing 1B, histone lysine methyltransferase) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Intellectual developmental disorder with seizures and language delay
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ACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGGGATTACCAAGTCAAAGGGGAGTCAGAGAGGGTCAGACCCAGGCGAAGTGTGGGAAGGCGCCATGTGGATGCCAGAGAGACTACAGAGAAGTGAAAAAGCGACTTCCATAAAAAGTTAAAACCAGAGAGGGGCTCACTGACCCCAGCAGGCCTCCCTAGGACAGCAGCAGTGCAAAGGCCCTGAGGCAGCAGGGAGCTCCATGGTGTGAGGAAGGGAAGGGAGAGGCCACTTGTGGGAGAGACAGCACAGGCCACCAGGGTCGGGGGTACTGTGGTGGTAAGTGACCTGTCTCCTGGGGTGACAGGCAGCAGAGGGAGGTTGTGAGAGGAGCTGGGGTGGTGTGGAGCTGGTGCAGGGGTCCTGAGGGCAGACTGTTCGGGTTGCTGCGGTTTCCAGACCGGATGTGCCGGACTTAGCTGGGCCGCGAGGAGCCATTAGCTGTGGAAGAATATGAGGAAGTGGGATGGACAGGACCAGGGCTGGCCTGGGTACAGGAGACAGGGATGGGCGGGGGGTGACAGCCCAGGGTGTGGCTGGGGTCGGGGGTGCTGGGAAGCTGGACACCAGGCCTGAGATGGGGAGGCTGATATGCTATCACCACGAGGCAGCTTGAGTTCTGCGGGTTCTGAAAACACCCAGGCAGAGAGGTCTTGGTGGGCATGTGGGTATGGCGGAGCTTAGGATGGGGATCTCCGGCCCGGGGACCTAAGTGTAGGCATCGCCAGGAGAGAAGTGGTGACTGAAGGTCACAGCAGGGTGACCTCACCTGGGAGGGCACTTGGGGCAGAGGCCTGGGATGCTCCAAAGGTTAATGGCTGGGGCAGAGGCCCAGGGAGGCCAAGAGCAGGACGTGACACAAGGGTTTCGGAAGGATCCCCGATTTTGAACGCTTGTGGGGTGAGAGGGGTCTGGGTGAGAGCCAAGGAGGGGGTCAGGGTAGACAAAACTTTCGGCTGAAATGGGGAAAAGACAGCGCCAGGCAAGAGTGAGTCTCGTCGTTTTGAAGATAGAAGGAGCTTGAGACGCTCAGATACTGATGGGATGGAGGAGGCAGGGAAGCGGTGACAATTAGGGACCGACAGGTGTGGAGAAGCCCAGAGCAAGGAGCCCAGGACACTGGGGATGACAGAGATCCAGAGCCTAGGGTGGGACCGCCGAGGACACGGCCAGCTCCGCTGAGCCCCGCACACCGTCCACTGCAGGGCATGAGCATCCCAGCACAGCCCCACGCCTCCACCCGGGCAGGCTCGGAGCGGCGTTCGGAGCAGCGCCGCCTGCTGTCCTCCTTCACTGGCAGCTGTGACAGTGACCTGCTCAAGTTCAACCAGCTCAAGGTGAGGCCGGGCTTCACCCAGATCGCCGGGGTGGCGGCAGGACCTGAGACCGGGGCTCACCTCTCCCCCTCTTCCCTCCCACAGTTCCGGAAGAAAAAGCTCAAGTTCTGCAAGAGCCACATTCACGACTGGGGCTTGTTCGCCATGGAGCCCATCGCGGCTGACGAGATGGTCATCGAGTACGTGGGCCAGAATATCCGTCAGGTAGGCACCGCCCGGCAGGATGGGCACCGGGGTGGGCATGGGGCCGGCCCAGCCAGACTGACCCCCTTTTGTGGCCAGGTGATCGCAGACATGCGGGAGAAGCGTTATGAGGACGAGGGCATCGGGAGCAGCTACATGTTCCGGGTGGACCATGACACCATCATCGACGCCACCAAGTGCGGCAACTTCGCGCGCTTCATCAACCACAGCTGCAACGTGAGTGCCCAGCGGGGGGTGGCCCCTGCCCCTGCTCCTGCCCCTGGCCCTGCTTCTGTGCCAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTGCACTGCGTGCATCTGTGCTGTGGGTTAGCCACATGTGTGGTGGTGAGCACTGGAAATGTGCCCAGTGCATCTGGGGACCTGAGTTTTAAATTTTATTTCATTTTGATGAATTTAAACTTAATTAGCTTGTGACGACTGTATTGGGTGGTGCAGGCCTAGAGGGGAGGGACACTGATAACAGGGATTTGAGTGCTGAAGGAAGAGCACAGGAAGCTCTGAGCAGGAGGCAGGCATGTTCCGGGGTGGATGCCCCTGACTTTGGGTTCAAGTCTTGGCATTGCAGCTTAGTGAGTTACTTAATGTCTCTTATGCCTGAGTTTCCTTGTCTGTAAAACAGAGACAATAACAGTCTCTCCTTTTAGGTTGTTGGGAGGGCCACATAGGTGGGTCACTGCACGTGGGCCATTTGAGTGCTGGCCAGGCCAGTCCTCAGCGCCTGCTGGCTCTCTTCGTTGTGACTTGATCCTTGCCTGGGTGGTAGGGACTTTCCTGTGAATATCCGGGGAGATCTGAGGGGTGAGAGGGAATTGCCCAGGGGAAGCGGTGCTGGGGCAAGGGGAACTGCGTGTTCAAAGGCCCTGGGGCAGTTGGGAGAACACCTGTTTGAGAGATAGCAAGGGAGGCAGTGGGCATGGGGTGGGGTAAGAGGATGGGGTGGGCAGGGCTGAGGGTGGCCAAGCTGAGGAACTAAGTTTCTCTGAGAGCCAAGGTCGCTGGAAGGTTGGAGCCATCGGGCAACAGGTTCTGCTATCCCTTTGGAAACGTTTCCCTGGCTGCTGGGGCAGGAGTGGATTTTTTCAGGGGTGAGAGTGGCCAAGGGGGCTGTAGCAGGCGGGTGAGCAGTGATGGGGGCCTGAGCGTGGCTGGTGGCCCCAGAAGTGGAGAGCAGTAGACACAACCAAGAGGCCCTTCCGGGACTGAACTCACCGGCCCTGGTTGGGGCCAGATCTGGACTGAAGGAGGCAGGGAGGCAGATGCTCTGGGGCCTGGGTGTGTGGTGCAGCGGCTGCCCAGAGCAGGAGCAGATCATGCTTTAGGTGTGAGCTAAGTCAAAGACAGTACCCAGGGCTGCCACTGGCAGACAGCAGGTAGTTGCATTTATGGGCTTGGAGGCCTTTACCTTTTCTGTAAAGGGCCAGATAATAAATGTTTTTGGCTTGGTGGCTCAGATGATCTCTATGGCAACTACTGAACTTGGCTATTGTAACAAAAGCAGCCACAAATTATATGCAAATGAATGGGAGAATGGATATGGCTATGTGCCAGTAAAACTTTATTTACAAAAACAGGCTGCTAGGGGCTATAGTTTGCTGACCCTTTTTTTAGAGCTCAGAAGTGAGACCTGAGCTAAAAATAGACATACATTTGGGAGGCACTTGTACTACGAATGGAAATGAAAGGCCTGGGAAATAATTTTTATCATCATTATTTAATATCAGAGGCAAGGGGTCACCCCTGGGGGTCGGGGGAGCCAAGGTCCAGAGCAGAGCAGTGGGCTGGGGGTCACGTGGCATGTCAGGCCTTAAGCACAGGCCTGGTTGGGTTTGGGGGGTCTGCAGTGGTGGGGGACCCTGGGGGACCAGGGGCTCATTCTCCCCCCCACCTTGCCTGCAGCCCAACTGCTATGCCAAGGTGATCACG
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ACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGGGATTACCAAGTCAAAGGGGAGTCAGAGAGGGTCAGACCCAGGCGAAGTGTGGGAAGGCGCCATGTGGATGCCAGAGAGACTACAGAGAAGTGAAAAAGCGACTTCCATAAAAAGTTAAAACCAGAGAGGGGCTCACTGACCCCAGCAGGCCTCCCTAGGACAGCAGCAGTGCAAAGGCCCTGAGGCAGCAGGGAGCTCCATGGTGTGAGGAAGGGAAGGGAGAGGCCACTTGTGGGAGAGACAGCACAGGCCACCAGGGTCGGGGGTACTGTGGTGGTAAGTGACCTGTCTCCTGGGGTGACAGGCAGCAGAGGGAGGTTGTGAGAGGAGCTGGGGTGGTGTGGAGCTGGTGCAGGGGTCCTGAGGGCAGACTGTTCGGGTTGCTGCGGTTTCCAGACCGGATGTGCCGGACTTAGCTGGGCCGCGAGGAGCCATTAGCTGTGGAAGAATATGAGGAAGTGGGATGGACAGGACCAGGGCTGGCCTGGGTACAGGAGACAGGGATGGGCGGGGGGTGACAGCCCAGGGTGTGGCTGGGGTCGGGGGTGCTGGGAAGCTGGACACCAGGCCTGAGATGGGGAGGCTGATATGCTATCACCACGAGGCAGCTTGAGTTCTGCGGGTTCTGAAAACACCCAGGCAGAGAGGTCTTGGTGGGCATGTGGGTATGGCGGAGCTTAGGATGGGGATCTCCGGCCCGGGGACCTAAGTGTAGGCATCGCCAGGAGAGAAGTGGTGACTGAAGGTCACAGCAGGGTGACCTCACCTGGGAGGGCACTTGGGGCAGAGGCCTGGGATGCTCCAAAGGTTAATGGCTGGGGCAGAGGCCCAGGGAGGCCAAGAGCAGGACGTGACACAAGGGTTTCGGAAGGATCCCCGATTTTGAACGCTTGTGGGGTGAGAGGGGTCTGGGTGAGAGCCAAGGAGGGGGTCAGGGTAGACAAAACTTTCGGCTGAAATGGGGAAAAGACAGCGCCAGGCAAGAGTGAGTCTCGTCGTTTTGAAGATAGAAGGAGCTTGAGACGCTCAGATACTGATGGGATGGAGGAGGCAGGGAAGCGGTGACAATTAGGGACCGACAGGTGTGGAGAAGCCCAGAGCAAGGAGCCCAGGACACTGGGGATGACAGAGATCCAGAGCCTAGGGTGGGACCGCCGAGGACACGGCCAGCTCCGCTGAGCCCCGCACACCGTCCACTGCAGGGCATGAGCATCCCAGCACAGCCCCACGCCTCCACCCGGGCAGGCTCGGAGCGGCGTTCGGAGCAGCGCCGCCTGCTGTCCTCCTTCACTGGCAGCTGTGACAGTGACCTGCTCAAGTTCAACCAGCTCAAGGTGAGGCCGGGCTTCACCCAGATCGCCGGGGTGGCGGCAGGACCTGAGACCGGGGCTCACCTCTCCCCCTCTTCCCTCCCACAGTTCCGGAAGAAAAAGCTCAAGTTCTGCAAGAGCCACATTCACGACTGGGGCTTGTTCGCCATGGAGCCCATCGCGGCTGACGAGATGGTCATCGAGTACGTGGGCCAGAATATCCGTCAGGTAGGCACCGCCCGGCAGGATGGGCACCGGGGTGGGCATGGGGCCGGCCCAGCCAGACTGACCCCCTTTTGTGGCCAGGTGATCGCAGACATGCGGGAGAAGCGTTATGAGGACGAGGGCATCGGGAGCAGCTACATGTTCCGGGTGGACCATGACACCATCATCGACGCCACCAAGTGCGGCAACTTCGAGCGCTTCATCAACCACAGCTGCAACGTGAGTGCCCAGCGGGGGGTGGCCCCTGCCCCTGCTCCTGCCCCTGGCCCTGCTTCTGTGCCAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTGCACTGCGTGCATCTGTGCTGTGGGTTAGCCACATGTGTGGTGGTGAGCACTGGAAATGTGCCCAGTGCATCTGGGGACCTGAGTTTTAAATTTTATTTCATTTTGATGAATTTAAACTTAATTAGCTTGTGACGACTGTATTGGGTGGTGCAGGCCTAGAGGGGAGGGACACTGATAACAGGGATTTGAGTGCTGAAGGAAGAGCACAGGAAGCTCTGAGCAGGAGGCAGGCATGTTCCGGGGTGGATGCCCCTGACTTTGGGTTCAAGTCTTGGCATTGCAGCTTAGTGAGTTACTTAATGTCTCTTATGCCTGAGTTTCCTTGTCTGTAAAACAGAGACAATAACAGTCTCTCCTTTTAGGTTGTTGGGAGGGCCACATAGGTGGGTCACTGCACGTGGGCCATTTGAGTGCTGGCCAGGCCAGTCCTCAGCGCCTGCTGGCTCTCTTCGTTGTGACTTGATCCTTGCCTGGGTGGTAGGGACTTTCCTGTGAATATCCGGGGAGATCTGAGGGGTGAGAGGGAATTGCCCAGGGGAAGCGGTGCTGGGGCAAGGGGAACTGCGTGTTCAAAGGCCCTGGGGCAGTTGGGAGAACACCTGTTTGAGAGATAGCAAGGGAGGCAGTGGGCATGGGGTGGGGTAAGAGGATGGGGTGGGCAGGGCTGAGGGTGGCCAAGCTGAGGAACTAAGTTTCTCTGAGAGCCAAGGTCGCTGGAAGGTTGGAGCCATCGGGCAACAGGTTCTGCTATCCCTTTGGAAACGTTTCCCTGGCTGCTGGGGCAGGAGTGGATTTTTTCAGGGGTGAGAGTGGCCAAGGGGGCTGTAGCAGGCGGGTGAGCAGTGATGGGGGCCTGAGCGTGGCTGGTGGCCCCAGAAGTGGAGAGCAGTAGACACAACCAAGAGGCCCTTCCGGGACTGAACTCACCGGCCCTGGTTGGGGCCAGATCTGGACTGAAGGAGGCAGGGAGGCAGATGCTCTGGGGCCTGGGTGTGTGGTGCAGCGGCTGCCCAGAGCAGGAGCAGATCATGCTTTAGGTGTGAGCTAAGTCAAAGACAGTACCCAGGGCTGCCACTGGCAGACAGCAGGTAGTTGCATTTATGGGCTTGGAGGCCTTTACCTTTTCTGTAAAGGGCCAGATAATAAATGTTTTTGGCTTGGTGGCTCAGATGATCTCTATGGCAACTACTGAACTTGGCTATTGTAACAAAAGCAGCCACAAATTATATGCAAATGAATGGGAGAATGGATATGGCTATGTGCCAGTAAAACTTTATTTACAAAAACAGGCTGCTAGGGGCTATAGTTTGCTGACCCTTTTTTTAGAGCTCAGAAGTGAGACCTGAGCTAAAAATAGACATACATTTGGGAGGCACTTGTACTACGAATGGAAATGAAAGGCCTGGGAAATAATTTTTATCATCATTATTTAATATCAGAGGCAAGGGGTCACCCCTGGGGGTCGGGGGAGCCAAGGTCCAGAGCAGAGCAGTGGGCTGGGGGTCACGTGGCATGTCAGGCCTTAAGCACAGGCCTGGTTGGGTTTGGGGGGTCTGCAGTGGTGGGGGACCCTGGGGGACCAGGGGCTCATTCTCCCCCCCACCTTGCCTGCAGCCCAACTGCTATGCCAAGGTGATCACG
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Task1_train_18887
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Given this variant in gene SETD1B (SET domain containing 1B, histone lysine methyltransferase) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Intellectual developmental disorder with seizures and language delay
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CAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTGCACTGCGTGCATCTGTGCTGTGGGTTAGCCACATGTGTGGTGGTGAGCACTGGAAATGTGCCCAGTGCATCTGGGGACCTGAGTTTTAAATTTTATTTCATTTTGATGAATTTAAACTTAATTAGCTTGTGACGACTGTATTGGGTGGTGCAGGCCTAGAGGGGAGGGACACTGATAACAGGGATTTGAGTGCTGAAGGAAGAGCACAGGAAGCTCTGAGCAGGAGGCAGGCATGTTCCGGGGTGGATGCCCCTGACTTTGGGTTCAAGTCTTGGCATTGCAGCTTAGTGAGTTACTTAATGTCTCTTATGCCTGAGTTTCCTTGTCTGTAAAACAGAGACAATAACAGTCTCTCCTTTTAGGTTGTTGGGAGGGCCACATAGGTGGGTCACTGCACGTGGGCCATTTGAGTGCTGGCCAGGCCAGTCCTCAGCGCCTGCTGGCTCTCTTCGTTGTGACTTGATCCTTGCCTGGGTGGTAGGGACTTTCCTGTGAATATCCGGGGAGATCTGAGGGGTGAGAGGGAATTGCCCAGGGGAAGCGGTGCTGGGGCAAGGGGAACTGCGTGTTCAAAGGCCCTGGGGCAGTTGGGAGAACACCTGTTTGAGAGATAGCAAGGGAGGCAGTGGGCATGGGGTGGGGTAAGAGGATGGGGTGGGCAGGGCTGAGGGTGGCCAAGCTGAGGAACTAAGTTTCTCTGAGAGCCAAGGTCGCTGGAAGGTTGGAGCCATCGGGCAACAGGTTCTGCTATCCCTTTGGAAACGTTTCCCTGGCTGCTGGGGCAGGAGTGGATTTTTTCAGGGGTGAGAGTGGCCAAGGGGGCTGTAGCAGGCGGGTGAGCAGTGATGGGGGCCTGAGCGTGGCTGGTGGCCCCAGAAGTGGAGAGCAGTAGACACAACCAAGAGGCCCTTCCGGGACTGAACTCACCGGCCCTGGTTGGGGCCAGATCTGGACTGAAGGAGGCAGGGAGGCAGATGCTCTGGGGCCTGGGTGTGTGGTGCAGCGGCTGCCCAGAGCAGGAGCAGATCATGCTTTAGGTGTGAGCTAAGTCAAAGACAGTACCCAGGGCTGCCACTGGCAGACAGCAGGTAGTTGCATTTATGGGCTTGGAGGCCTTTACCTTTTCTGTAAAGGGCCAGATAATAAATGTTTTTGGCTTGGTGGCTCAGATGATCTCTATGGCAACTACTGAACTTGGCTATTGTAACAAAAGCAGCCACAAATTATATGCAAATGAATGGGAGAATGGATATGGCTATGTGCCAGTAAAACTTTATTTACAAAAACAGGCTGCTAGGGGCTATAGTTTGCTGACCCTTTTTTTAGAGCTCAGAAGTGAGACCTGAGCTAAAAATAGACATACATTTGGGAGGCACTTGTACTACGAATGGAAATGAAAGGCCTGGGAAATAATTTTTATCATCATTATTTAATATCAGAGGCAAGGGGTCACCCCTGGGGGTCGGGGGAGCCAAGGTCCAGAGCAGAGCAGTGGGCTGGGGGTCACGTGGCATGTCAGGCCTTAAGCACAGGCCTGGTTGGGTTTGGGGGGTCTGCAGTGGTGGGGGACCCTGGGGGACCAGGGGCTCATTCTCCCCCCCACCTTGCCTGCAGCCCAACTGCTATGCCAAGGTGATCACGGTGGAGTCACAGAAGAAGATAGTCATCTACTCGAAGCAGCACATTAACGTCAATGAGGAGATTACCTATGACTATAAGTTCCCCATCGAGGACGTCAAGATCCCCTGCCTCTGTGGCTCCGAGAACTGCCGGGGGACCCTCAACTAGGCCCCGGCACCAGACTCAAAGGATGTCAGCCGTAGCCCTGGGACTCCCGAGCGTGGAGCCCCTGGCCCCGGGGCCCGGCCCCCCGCGCCCGCCCCCATTTCAGGTGCTGTCCTCTACCCAGCGGCCATTCAGGGCCTGGCGCCCCACACTACCCCCTGGAGCCCCTGGCTCCGGCCCCTCCGCGGGAAAGGGCTTCTCTGTCGTTCAGCCCACGTCTCTCTCATTTTAACAAACGCCCCTTTCAGGATTTCTGTTTAACTCCAGCATCAGCTTCTCTCTCTCCGTCTCTCCTCCCCTCTCTCTCTTCTCTGTCTCTTCTCTCTCCCACCATCACCCTCGGCCTCTTCCTGTGAATGCTGCTACGTTGTTTTGTCTTCTCTATTTTTTTCCTCGTTGTGAGAAAAGACATTTAACCGTTGAAATGTGAAGGTGGAATCAGAGAGGGGCCCCGCGGGGGTCTGCAGAGGCCTCAGTGTGGCTGTGCGTGGCCCGTGTCCTGGAAGCCACCCGGACCTGGACGCAGGGCCAGGTGCTGTGGGAAGGATGGAGGCCCCCACGGCCTTGACCTCAGAACACTACGCCCTGAAAGCGCCCCTCACTGCCCGTGGGCACAGTGAGGAGACCCCACACCTTTCCCCACCCGAGCTGCAGCCTGTTCCTTCCCCAGAGGCCTGGGGCACCACTGACCCGGTGGACCCTGATGGAGCTAAGCTGTCCCAGGCAGGGGTCTCCGCTCTGGGCTTTCCCTGCCACCTCACACCCCAGCACCCCCTAAACCTTGGGTTCAATGTTTACTTTCTCATTCGGATGCCAGCAACGCGGGAGCCTCTCGGAGGCCCCAGTGCAGGTGAGGGGCGCTGAGAACGCGGGCAGCCACTCTCTTCTGCCCTTGCCTTCGCCCTGGGTGGGACAGGGCTCCCAAGGGCAGGCGGGTCCCCCAGTCCCGCCATTACGGGTTGTCAGACCGTCTGCGTGTGGCATTTTTTGGCTTATAAGCTTCACCCACTCACCCCCAACCCACACCCCACATCCCCCTGCCGGCAGCCCCTCAACCTAAGAAGGCCAGAGCATATTTATTTTCGGAGGGAGCAGATTACTTCTCCCAGAGAAAGGAAAATCTTGGAAAAGATTTAAAAACACAAATCTAAGCCTTGACGGTTTTTTTTTCCCTTTTGACCCCCTTCCCATCTCTTCAGAATTTATTCCCATGGCTTTTTTTTTTCTTGTGCGTGTATAAAATCAAAAGGAAGGGGAAAAAGGTTTTTGAAGTTCAGAACCAACTTCTGTATATAGAGGCTGCCGCAAAGGACTTTCTCTTGGGAACATTGTTTCTTGTAGAAACATGCGGGAAGACATTTTTTGCTCATTTCTTTGTACTTCCAAAAAAAAAGGAAAAAAAAGACAAAAGCAAGTCCCCCCGTACCCCAGAAAGCAGAGGAGGCGTGTAAATAATTTCTGGAAAGTGACTGTTGTGACCCGGAGTCCTCATCAAGATGAGCGCGCTCCATGAGGGAGCTGCTCCCACCCTGCGGACGCAGGCGGCCGGAGCCTCTGGTATCTCAGCTTGTGTCAAGCTTGTTATCATGTAAATTCTGTACAAAGAATTGTTATTTTTCTCTTTTTTGTTGTTGGTGGTTTTGTTGTGTGTTTTTTGTTGTTTTTTTTTTATTCCTTTCCCCCAGGCCCTCTCTATTTGAGACTGTGCCCGCCGGTTTCAAGATCAAGGAAATTGGTGGCAACAAGACACAGATGGGGTACCTGGGCACAGCGGCGAACTTCTCTTCCGTTTGCGGTTTTCTGCCTAATTGTGCAACTGAGGAAATAATTTATTTTTCACATGAGGAAATGCGTAGCTTGTAGAGACGGCTGATTCAAGTTACATGTACAGCCTCCAAAGGGCTGTCTCCATTCTGTCCCCTTCCCATAAAAGAAGTGGGGGTGTTCGAGAAGACCAGGGAAGGGACCCTTGCCTCACCCCTCCCCCTGGC
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CAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTGCACTGCGTGCATCTGTGCTGTGGGTTAGCCACATGTGTGGTGGTGAGCACTGGAAATGTGCCCAGTGCATCTGGGGACCTGAGTTTTAAATTTTATTTCATTTTGATGAATTTAAACTTAATTAGCTTGTGACGACTGTATTGGGTGGTGCAGGCCTAGAGGGGAGGGACACTGATAACAGGGATTTGAGTGCTGAAGGAAGAGCACAGGAAGCTCTGAGCAGGAGGCAGGCATGTTCCGGGGTGGATGCCCCTGACTTTGGGTTCAAGTCTTGGCATTGCAGCTTAGTGAGTTACTTAATGTCTCTTATGCCTGAGTTTCCTTGTCTGTAAAACAGAGACAATAACAGTCTCTCCTTTTAGGTTGTTGGGAGGGCCACATAGGTGGGTCACTGCACGTGGGCCATTTGAGTGCTGGCCAGGCCAGTCCTCAGCGCCTGCTGGCTCTCTTCGTTGTGACTTGATCCTTGCCTGGGTGGTAGGGACTTTCCTGTGAATATCCGGGGAGATCTGAGGGGTGAGAGGGAATTGCCCAGGGGAAGCGGTGCTGGGGCAAGGGGAACTGCGTGTTCAAAGGCCCTGGGGCAGTTGGGAGAACACCTGTTTGAGAGATAGCAAGGGAGGCAGTGGGCATGGGGTGGGGTAAGAGGATGGGGTGGGCAGGGCTGAGGGTGGCCAAGCTGAGGAACTAAGTTTCTCTGAGAGCCAAGGTCGCTGGAAGGTTGGAGCCATCGGGCAACAGGTTCTGCTATCCCTTTGGAAACGTTTCCCTGGCTGCTGGGGCAGGAGTGGATTTTTTCAGGGGTGAGAGTGGCCAAGGGGGCTGTAGCAGGCGGGTGAGCAGTGATGGGGGCCTGAGCGTGGCTGGTGGCCCCAGAAGTGGAGAGCAGTAGACACAACCAAGAGGCCCTTCCGGGACTGAACTCACCGGCCCTGGTTGGGGCCAGATCTGGACTGAAGGAGGCAGGGAGGCAGATGCTCTGGGGCCTGGGTGTGTGGTGCAGCGGCTGCCCAGAGCAGGAGCAGATCATGCTTTAGGTGTGAGCTAAGTCAAAGACAGTACCCAGGGCTGCCACTGGCAGACAGCAGGTAGTTGCATTTATGGGCTTGGAGGCCTTTACCTTTTCTGTAAAGGGCCAGATAATAAATGTTTTTGGCTTGGTGGCTCAGATGATCTCTATGGCAACTACTGAACTTGGCTATTGTAACAAAAGCAGCCACAAATTATATGCAAATGAATGGGAGAATGGATATGGCTATGTGCCAGTAAAACTTTATTTACAAAAACAGGCTGCTAGGGGCTATAGTTTGCTGACCCTTTTTTTAGAGCTCAGAAGTGAGACCTGAGCTAAAAATAGACATACATTTGGGAGGCACTTGTACTACGAATGGAAATGAAAGGCCTGGGAAATAATTTTTATCATCATTATTTAATATCAGAGGCAAGGGGTCACCCCTGGGGGTCGGGGGAGCCAAGGTCCAGAGCAGAGCAGTGGGCTGGGGGTCACGTGGCATGTCAGGCCTTAAGCACAGGCCTGGTTGGGTTTGGGGGGTCTGCAGTGGTGGGGGACCCTGGGGGACCAGGGGCTCATTCTCCCCCCCACCTTGCCTGCAGCCCAACTGCTATGCCAAGGTGATCACGGTGGAGTCACAGAAGAAGATAGTCATCTACTCGAAGCAGCACATTAACGTCAATGAGGAGATTACCTATGACTATAAGTTCCCCATCAAGGACGTCAAGATCCCCTGCCTCTGTGGCTCCGAGAACTGCCGGGGGACCCTCAACTAGGCCCCGGCACCAGACTCAAAGGATGTCAGCCGTAGCCCTGGGACTCCCGAGCGTGGAGCCCCTGGCCCCGGGGCCCGGCCCCCCGCGCCCGCCCCCATTTCAGGTGCTGTCCTCTACCCAGCGGCCATTCAGGGCCTGGCGCCCCACACTACCCCCTGGAGCCCCTGGCTCCGGCCCCTCCGCGGGAAAGGGCTTCTCTGTCGTTCAGCCCACGTCTCTCTCATTTTAACAAACGCCCCTTTCAGGATTTCTGTTTAACTCCAGCATCAGCTTCTCTCTCTCCGTCTCTCCTCCCCTCTCTCTCTTCTCTGTCTCTTCTCTCTCCCACCATCACCCTCGGCCTCTTCCTGTGAATGCTGCTACGTTGTTTTGTCTTCTCTATTTTTTTCCTCGTTGTGAGAAAAGACATTTAACCGTTGAAATGTGAAGGTGGAATCAGAGAGGGGCCCCGCGGGGGTCTGCAGAGGCCTCAGTGTGGCTGTGCGTGGCCCGTGTCCTGGAAGCCACCCGGACCTGGACGCAGGGCCAGGTGCTGTGGGAAGGATGGAGGCCCCCACGGCCTTGACCTCAGAACACTACGCCCTGAAAGCGCCCCTCACTGCCCGTGGGCACAGTGAGGAGACCCCACACCTTTCCCCACCCGAGCTGCAGCCTGTTCCTTCCCCAGAGGCCTGGGGCACCACTGACCCGGTGGACCCTGATGGAGCTAAGCTGTCCCAGGCAGGGGTCTCCGCTCTGGGCTTTCCCTGCCACCTCACACCCCAGCACCCCCTAAACCTTGGGTTCAATGTTTACTTTCTCATTCGGATGCCAGCAACGCGGGAGCCTCTCGGAGGCCCCAGTGCAGGTGAGGGGCGCTGAGAACGCGGGCAGCCACTCTCTTCTGCCCTTGCCTTCGCCCTGGGTGGGACAGGGCTCCCAAGGGCAGGCGGGTCCCCCAGTCCCGCCATTACGGGTTGTCAGACCGTCTGCGTGTGGCATTTTTTGGCTTATAAGCTTCACCCACTCACCCCCAACCCACACCCCACATCCCCCTGCCGGCAGCCCCTCAACCTAAGAAGGCCAGAGCATATTTATTTTCGGAGGGAGCAGATTACTTCTCCCAGAGAAAGGAAAATCTTGGAAAAGATTTAAAAACACAAATCTAAGCCTTGACGGTTTTTTTTTCCCTTTTGACCCCCTTCCCATCTCTTCAGAATTTATTCCCATGGCTTTTTTTTTTCTTGTGCGTGTATAAAATCAAAAGGAAGGGGAAAAAGGTTTTTGAAGTTCAGAACCAACTTCTGTATATAGAGGCTGCCGCAAAGGACTTTCTCTTGGGAACATTGTTTCTTGTAGAAACATGCGGGAAGACATTTTTTGCTCATTTCTTTGTACTTCCAAAAAAAAAGGAAAAAAAAGACAAAAGCAAGTCCCCCCGTACCCCAGAAAGCAGAGGAGGCGTGTAAATAATTTCTGGAAAGTGACTGTTGTGACCCGGAGTCCTCATCAAGATGAGCGCGCTCCATGAGGGAGCTGCTCCCACCCTGCGGACGCAGGCGGCCGGAGCCTCTGGTATCTCAGCTTGTGTCAAGCTTGTTATCATGTAAATTCTGTACAAAGAATTGTTATTTTTCTCTTTTTTGTTGTTGGTGGTTTTGTTGTGTGTTTTTTGTTGTTTTTTTTTTATTCCTTTCCCCCAGGCCCTCTCTATTTGAGACTGTGCCCGCCGGTTTCAAGATCAAGGAAATTGGTGGCAACAAGACACAGATGGGGTACCTGGGCACAGCGGCGAACTTCTCTTCCGTTTGCGGTTTTCTGCCTAATTGTGCAACTGAGGAAATAATTTATTTTTCACATGAGGAAATGCGTAGCTTGTAGAGACGGCTGATTCAAGTTACATGTACAGCCTCCAAAGGGCTGTCTCCATTCTGTCCCCTTCCCATAAAAGAAGTGGGGGTGTTCGAGAAGACCAGGGAAGGGACCCTTGCCTCACCCCTCCCCCTGGC
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Task1_train_18888
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A variant was discovered in gene HPD (4-hydroxyphenylpyruvate dioxygenase), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hawkinsinuria
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ACCACTGCACTCCAGCCTAGAAGACAGAGCAAGACTGCATCTCAAAAAAGAAGGATATATATATATATACACACACATATATATATTTGAGAGACAGGGTCTTTGTTCTGTCACCCAGGCTGCAGTGCAGTGGCATGATCTTAGCTCACTGCAGCCTCAACCTCCCCAGGCTCAGCTGATCCTCCTACTTCAGACTTCTGGGTAACTAGAACCACAGGTGTGCACCACCACACCTGGCTAATTTTTTGATTTTTTTGTAAAGATGAGGTCTTATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAACATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGATGAGGTCTTACTATGTTGCCCACGTTGGTCTTGAACTTCTGAGCTCAAGCAGTCCTCCTGCCTCGGCCTCCCACAGTGTCTGACCCCCCAATTTAAATGTGCAATGCCATTCACCCTTGCTGTCCCAATTCCCTGCTTTACTTTCTTCCTGGGTGCTCTCTACCATCTAGCATTTATATTTTACTTATTTTGTTTATTGCTCCACAAGGGCAGAAACTGTTATAGGCATGAGCCACCATGCCCAACCTTAATTTCCTCATTTTAAAAAAAATTTCTTTTTTGAGGTTGCGGGGAGATAGGGCCTCACTCTCTGTCACCTAGGCTGGAGAAAAGTGGCTCAATCATAGCTAACTGCAGCCTTGAAATCCTTGGCTAAATGGATCCTCCTGCTTCAGCCTCCCAAGTAGCTAGGACTACAGGCATGAACCACCAAGCCTGGTTAATTTTGTTTACTTTTTGCAGAGACAGGGTCCCACTGTTTTCCAGGCTGATCTCTAACTTATGGGCTCAAACAATCCTTCTGCTTTGGCCTCCCGTGTAGTTGGGACTACAGGCATAAGCCACTGTGCCCAGTCCTAATTTCCTTTATTAATTACTATTATTTTTTTCTAAAGCAGAATTTCACTCTTGTCGCCCAGGCTGTGGTACAGTGGTGCGACCTTGGCTCACTGCAACCTCTACCTCCTGAGTTCAAGCACTTCTCTTGCCTCAGCCTCCTGAGAAGCTGGGATTACAGGTGCCCGCAACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCCCCTGCCTTGGCCACCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCTAATTTCCTGATTTTTAAGGTAAGGCAACTAAAGTCCAGAGACAGCACTGAATCTCCCAGAGACACAGAGCAAGCCACTGGCAGAACCGGGACCATCACCCAGGCTTCCTGATACCCTGGCGCCTGCTACCTCCAAAGCCCAGGGGTTCTGTGGAGACTGAACTCTCTGGGGGTGGGTGTGGCTGTGCCTGCCCATGAGTTGCAAGAAGCAGTGAGGGAGTCCTGTCAGTCTCCCAGCCCAGAGAAACGGGCCCAGGACTGCCGCCACCCGCCCTCTCAATTTTGCAGAGATCGTCCCTGGCTCTGAATGAGAGAGGAATTCGGACAGGGAAGGGGGTTCTAACCGCTGTGATGATGTCTTCGGTCTTGAGAGCGATGTGCTGGACCCCAGCGCCCCCGTTATAGTCCACATATTCCTGGGGGAGGGAAACAAGGAGACCACTGTCATTTGCCCCATCACCCACATCCCTGACCCTACAAGAGCCCCCAGACCTCTTCCCTGCTCCCCTCTCCCCCAGCCAGGGGCGGCCTCACCTGGATCTGGGACTTCTTCTTGCCAGGCGCTGGCTCATTGATGGGCATCTTGATGGACTCTTCATAGTTGGCCACCACAATGGATCGCAGAGAGCTATATTCCGTGTGCACCTGCGTGTCATCCACGGACCAGAAGCGGTGGAACTGCAGGTTTTTCAGGTACCTGTAGGGTGGGCGGTGGAACACATATGCTCTGAGCGCCTCCAGGGACGGCCTCCATCACCCATTTCCACCTTCCAGAATCTGTCCCTGAGCAGGCTCCAGAAAGGAGATGCCACTGCCATCATACCCATCAGAGATTTAGATCTTTTTGTTGTTGTTGTTGCTCGAGACAGAGTCTCACTCTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAGCCTCAATCTCCAGGCTCAATTGCTCCTCCCACCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGTGCTACCACACCTGGATAATTTTGGGGTATTTTTATTTTTTGTTTTTTGAGACGGAGTTTCGCTCTTTTCGCCCAGGCTGGAATGCAGTGACGCAATCTCGGCTCGCTGCAGCTGCCACTTCCTGGGTCCAGGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAACTAATTTTTTGTATTTAGTAGAGACAGTGTTTCACTGTGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCGTATTTTTTGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGTCTTGAACTCCTGGGTTCAAGCCATCCACCTGCCTGGGCCTCCAAAGTACTAAGATTCCAAATATGGGCCACCACGCCCAGCCTAGATTTGTACCTTTATGATGACATTTTTCCTTCAGGTGGAAGTGTCTTGGAACGAAATACATACAGGACGGCAAGGCTCCCACAGATGGAAGTAAAGTGCTTTGAGAAAAAGGCCCTTGCTTGGAATTTGGACAGGGGGCTCTCTGGGTGGTGGCAACCTTCCTCCAAGCCTCCCTGGACTGTGATGTCCCCAGGGTTCCTCAGAAGGAGGGCCTGTGGGTCGCTTTGGGCCTCAAGTCCACTGGTCTCCATGTTGACAGTTTTACAGTGAATAAATGCATCAGTGGCCTCAGGCTAACTCCCAACATCTTGTGCTGTATTTTCCACTTTTATTTTATTTTACTTTATTATTATTATTATTATTTTGAGACAAAGTCTCTCTCTCTCACCCAGGCTGGAGTGCAGTGGCGTAATCTCAGCTCACTGCAACCTCCGCCTTCCTGGTTCAAGCGATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACACACTGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGGGGTTCGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAAGTGCGCCCGGTCTATTTTATTTTATTTGTTTATTGGAGACAAAATCTTGCTCTGTTTCCCAGGCTGGAGTCTCACTCTGTCGCCCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAACTGGAATTACAGGGGCCCAACACCTCGCCCACTGAGTTTTTATATTTTTAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTGGTGTTGAACCCCTGACCTCAAGTGATCCTCCCACCTCGGCTTCCCAGAATGCTGGGATTACGGGTGTGAGCCACTGCACCCAGTCGTATTTTCCATGTTAGTGCAAGGACCAGGGAGTGGGCCAGTCCACCGTGAGGACCCGTCATCTTCACGCAGAGGGAGAGGGCCAAGGTCTCACCATTCGGAGGCGGACACCATCTCCTGATCAGGCTGGTTTCCCACAATGTGGTCGATCATCTCCAGACTGCATTTGGGCCTGGGAAGGGAAGAAGATGGGGGTGAGAAGGTGGCTACCCCCCAGATTGCTCCCTTCTCC
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ACCACTGCACTCCAGCCTAGAAGACAGAGCAAGACTGCATCTCAAAAAAGAAGGATATATATATATATACACACACATATATATATTTGAGAGACAGGGTCTTTGTTCTGTCACCCAGGCTGCAGTGCAGTGGCATGATCTTAGCTCACTGCAGCCTCAACCTCCCCAGGCTCAGCTGATCCTCCTACTTCAGACTTCTGGGTAACTAGAACCACAGGTGTGCACCACCACACCTGGCTAATTTTTTGATTTTTTTGTAAAGATGAGGTCTTATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAACATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGATGAGGTCTTACTATGTTGCCCACGTTGGTCTTGAACTTCTGAGCTCAAGCAGTCCTCCTGCCTCGGCCTCCCACAGTGTCTGACCCCCCAATTTAAATGTGCAATGCCATTCACCCTTGCTGTCCCAATTCCCTGCTTTACTTTCTTCCTGGGTGCTCTCTACCATCTAGCATTTATATTTTACTTATTTTGTTTATTGCTCCACAAGGGCAGAAACTGTTATAGGCATGAGCCACCATGCCCAACCTTAATTTCCTCATTTTAAAAAAAATTTCTTTTTTGAGGTTGCGGGGAGATAGGGCCTCACTCTCTGTCACCTAGGCTGGAGAAAAGTGGCTCAATCATAGCTAACTGCAGCCTTGAAATCCTTGGCTAAATGGATCCTCCTGCTTCAGCCTCCCAAGTAGCTAGGACTACAGGCATGAACCACCAAGCCTGGTTAATTTTGTTTACTTTTTGCAGAGACAGGGTCCCACTGTTTTCCAGGCTGATCTCTAACTTATGGGCTCAAACAATCCTTCTGCTTTGGCCTCCCGTGTAGTTGGGACTACAGGCATAAGCCACTGTGCCCAGTCCTAATTTCCTTTATTAATTACTATTATTTTTTTCTAAAGCAGAATTTCACTCTTGTCGCCCAGGCTGTGGTACAGTGGTGCGACCTTGGCTCACTGCAACCTCTACCTCCTGAGTTCAAGCACTTCTCTTGCCTCAGCCTCCTGAGAAGCTGGGATTACAGGTGCCCGCAACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCCCCTGCCTTGGCCACCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCTAATTTCCTGATTTTTAAGGTAAGGCAACTAAAGTCCAGAGACAGCACTGAATCTCCCAGAGACACAGAGCAAGCCACTGGCAGAACCGGGACCATCACCCAGGCTTCCTGATACCCTGGCGCCTGCTACCTCCAAAGCCCAGGGGTTCTGTGGAGACTGAACTCTCTGGGGGTGGGTGTGGCTGTGCCTGCCCATGAGTTGCAAGAAGCAGTGAGGGAGTCCTGTCAGTCTCCCAGCCCAGAGAAACGGGCCCAGGACTGCCGCCACCCGCCCTCTCAATTTTGCAGAGATCGTCCCTGGCTCTGAATGAGAGAGGAATTCGGACAGGGAAGGGGGTTCTAACCGCTGTGATGATGTCTTCGGTCTTGAGAGCGATGTGCTGGACCCCAGCGCCCCCGTTATAGTCCACATATTCCTGGGGGAGGGAAACAAGGAGACCACTGTCATTTGCCCCATCACCCACATCCCTGACCCTACAAGAGCCCCCAGACCTCTTCCCTGCTCCCCTCTCCCCCAGCCAGGGGCGGCCTCACCTGGATCTGGGACTTCTTCTTGCCAGGCGCTGGCTCACTGATGGGCATCTTGATGGACTCTTCATAGTTGGCCACCACAATGGATCGCAGAGAGCTATATTCCGTGTGCACCTGCGTGTCATCCACGGACCAGAAGCGGTGGAACTGCAGGTTTTTCAGGTACCTGTAGGGTGGGCGGTGGAACACATATGCTCTGAGCGCCTCCAGGGACGGCCTCCATCACCCATTTCCACCTTCCAGAATCTGTCCCTGAGCAGGCTCCAGAAAGGAGATGCCACTGCCATCATACCCATCAGAGATTTAGATCTTTTTGTTGTTGTTGTTGCTCGAGACAGAGTCTCACTCTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAGCCTCAATCTCCAGGCTCAATTGCTCCTCCCACCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGTGCTACCACACCTGGATAATTTTGGGGTATTTTTATTTTTTGTTTTTTGAGACGGAGTTTCGCTCTTTTCGCCCAGGCTGGAATGCAGTGACGCAATCTCGGCTCGCTGCAGCTGCCACTTCCTGGGTCCAGGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAACTAATTTTTTGTATTTAGTAGAGACAGTGTTTCACTGTGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCGTATTTTTTGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGTCTTGAACTCCTGGGTTCAAGCCATCCACCTGCCTGGGCCTCCAAAGTACTAAGATTCCAAATATGGGCCACCACGCCCAGCCTAGATTTGTACCTTTATGATGACATTTTTCCTTCAGGTGGAAGTGTCTTGGAACGAAATACATACAGGACGGCAAGGCTCCCACAGATGGAAGTAAAGTGCTTTGAGAAAAAGGCCCTTGCTTGGAATTTGGACAGGGGGCTCTCTGGGTGGTGGCAACCTTCCTCCAAGCCTCCCTGGACTGTGATGTCCCCAGGGTTCCTCAGAAGGAGGGCCTGTGGGTCGCTTTGGGCCTCAAGTCCACTGGTCTCCATGTTGACAGTTTTACAGTGAATAAATGCATCAGTGGCCTCAGGCTAACTCCCAACATCTTGTGCTGTATTTTCCACTTTTATTTTATTTTACTTTATTATTATTATTATTATTTTGAGACAAAGTCTCTCTCTCTCACCCAGGCTGGAGTGCAGTGGCGTAATCTCAGCTCACTGCAACCTCCGCCTTCCTGGTTCAAGCGATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACACACTGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGGGGTTCGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAAGTGCGCCCGGTCTATTTTATTTTATTTGTTTATTGGAGACAAAATCTTGCTCTGTTTCCCAGGCTGGAGTCTCACTCTGTCGCCCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAACTGGAATTACAGGGGCCCAACACCTCGCCCACTGAGTTTTTATATTTTTAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTGGTGTTGAACCCCTGACCTCAAGTGATCCTCCCACCTCGGCTTCCCAGAATGCTGGGATTACGGGTGTGAGCCACTGCACCCAGTCGTATTTTCCATGTTAGTGCAAGGACCAGGGAGTGGGCCAGTCCACCGTGAGGACCCGTCATCTTCACGCAGAGGGAGAGGGCCAAGGTCTCACCATTCGGAGGCGGACACCATCTCCTGATCAGGCTGGTTTCCCACAATGTGGTCGATCATCTCCAGACTGCATTTGGGCCTGGGAAGGGAAGAAGATGGGGGTGAGAAGGTGGCTACCCCCCAGATTGCTCCCTTCTCC
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Task1_train_18889
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Here is a mutation in DIABLO (diablo IAP-binding mitochondrial protein) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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GCTTGAGGTGCAGTGGAGCCATCTAGGCTCACTGCAGCCTCCACCCCCTGGGTTCAAGCCATTCTCCTGCACAGGCGTGTGCCACTACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGGTGGCCAGGGTAGTGTCAAACTCTTGACCTCAAGTGACCCACCTCAAGTGATCCGCCCTCCTTGGCCCCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCAACCAGTTTCTTAATAAGAACTAGTACTAAGCTATAACTTTGGTGAGCCGGCTGGGTGCGGTGGCTCGCACCTGTAATCCCAGCACTTTGAGAGGCTGAAGTGAGGAACAACATGACGAAACCTGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATGCTTGTAATCGGGAGGCTGAGGCAGGAAAATTGCTTGAACTGGAGAGGCAGAGGTTGCAGTGAGCTGAGAAAGTGCTACCACTGCAGCCTGGGCACCAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAATTTGGCCGGACACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCTTCTCTATTAAAAATACAAAAACTATTCTCTATTAAAAATACAAAAACTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCTAGATGGCGCCAGTGCACTCCAGCCTGGGTGACAGGAACAAAACTCCATTAAAAAAAATTTTTTTTTCTGTGAGCCTACCTACCTAGGTTGGGACCACTCAGGTAGGATGTTCTATGATGGGCACCTTGGGGCACCACGGTGCAAAGGACAAAGCACTGGCTGCTGGGAGAATAGGAGAAGCAGAGGCTTTGGAATTCGACCTACTTGGCTCCGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTAGACTGCTTGAGCCTAGGATTTCGAGATTAGCCTGTGCAACATTGTAAAACCCCATCTCTATTTTATGAAGGAAAAAAAAAAAAAAAAAAAAAAGACCTACTCAGCTGAATCTCAGCTTGGCTGCTTACTCACCATACCGTGTCATCTTAGCCGAATGATCTGGCCCATCTGCCCTCTAGTTTCTTCACATATAAAAAGTGCCTACGAAATGCCTACCACAAAGCCTGACATAGACAAATAATTTGTCCTGGTTTTGCCACTGACTATGATTCCAGGTCTCATTTTCTCCATCTGTACAAAAAGGTTCACATAGATTACTCATCTCAAGTCTCAGCCAACGGTGTAATTCTATGATTGTTAATAAATTGTATTACCAAAAGAAGCTAAAACTATTTGGAAGCAATCCAATTTTCCAATGGTAATAGTTTTATCATTTTTCATTTTGAAGACATAACCTAGCTTCTACTGGTCTGGTCTGCAAGGGTATGCTCATTGTTTCTATTGTGCAAATAAAATGTAGGTTAATATGTAGGAAATGGGGAAAATTTCTCAAAGTGAGAGCCACTTAGACCATTTACTATAAAGCCCTCATTTTAGAAAACCAGATGAAAACTCAAATGGTACCTTCCTAGTTAAAAAATTAAAAAAAAAACCCAACACAAAACTTGAACCTACCAGTTTGATATGCAGCTTCTGCTGCCATCTCTGAAAGACCAACTGCAGTCATCCAAGTGGTTTCCAGCTTCAAGTACTCTTGGTGTTTTGAAGTCATCTATATAAATCAAGCAAAGTGCTTCAGACAGCATAAGAGGTCTAGCCCATTTAAATGGACTTAAAGTAGTAGATTTAGAGAACACTGATTATATTGATTAGACTTAATTCAATAATTTAGATACCACATGAGGTAGGTGCACTAACACAGAAATGCCTAGAACTTTCTGCTTACCTCAGCTCTGGCTCCTATGATCACCTGCCACACTTCATCTTCCTCCTCTGAATTCATTTTCCCAAGTAAACTTGTATATTGTCGGTAAAGAGAAGTTAAGGTATAAACAGCCTACAAATAGAGAATGAACAAGTCTGAGTAAAGTAAGTGAGACATATCAGAAGGAATAGAGAGATTTCCACCTCAAGGAAATTAAGTCCCATTACAGCAAACTGGCTCTTCCATCCTGCTGCCTCAATGAAATTGCACTATTATCCTATGAAGTAAAGGTATCAGGACATTAGTATCTCCATCTGTAAACTTCTGTGTTTTTAAAAGCTTGTCAGCAATTCAGACACAGAAAGAGAAAACAATGCAAGGGAAAACTTTAAAGGTTGAGGGGAAAAAAGCTGCTGGAAAATATATGTAAAACAAATGCACAAATGAGACTTCAATACTTTTGATTATCCATATACGCTAAAAAATTTTTATTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGACACGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGAAGGAAAATCGCTTGAACCCAGGAGGCGGAGATTGCAGCGAGCTGACATCACTCCACTGCACTCCAGCCTGCGTAAGCAAGACTCCATCTCAAAAAAAAAAATTTATTATTTTTTACAAACAGGATGCTATGTCACCCAGACGGAAGTGCACTGGCATGTTCATAGCTCACTGTAATCTCAAACTCCTAGACTCAAGTGATCCTCCCACCTCAGCCCCTGGAGTAACTGGGACTACAGGCACACAACACACCATGCCTGGCTAAGTTTAAAATTTTTTTTCTGCTAGAGATGGGGCTTGCTACATTGACTGGGTTGGTCTTGAACTCCTGGCCCCAAGTGATCCTCCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGATGTGAGCCACCACGCCTGGCCCATATACTCTCTTTTCTATTAGGTTAGATCAGTGGCTTTTAAATAATCCTCACAGAGCAACCTCTGTTGATGGACCACAGGCCCCTGTGCCCTTAACTGAACCATATCAGCTTCACTCCTGTTTTATATACTAGGCTGCCACATTTAAGATTTTTCTGTAAAAAAAAAAAAAAAGGTTCCTGGGAAAAGTCTAAAAACGAGTGATTTAGATCAGGGCTCAGCAAACTTTTTGAAGGGCCTGACAGTAAATATTTTGGGCTTTGTGGGCCTTACAGCCTCTGTTGAAACTACTCAAATCCTCAAAAACCGTTATTGACAACACATAAACAAATAGGCCTGGCTATGTTTCAATCAAATACCAACATGGGTATCAGACACAATTTGGTTGTGAGCCATTATTTGCTAAACCATGGTTTAGAAGATCAAGAGTTAAGAGGAGACATACCTTAGTATATTCAGTAATAGCTTCAATCAACGCATATGTGGTCTGAGAGAGAAAGGTAGAGGTGCTATCTGTTACCAAAGACACTGCTCTCCTCATCAATGCTTCACTACTAAGGGAATGAGGCTCTGATTTCTGAAAGACACAAACATTGTCACTCAACCTCTAAAGCTCAAACTGAGAACTTTTTCACCAATAGGCAAGCAAAAAACGTAATTGTCATGCTGCTTAGTGTTTTAGGCTGAAACTGCACTATATTTCTTTGGGTTATATTTTTTAAGGCCTTATTTTGGCAATTTAAGACAATATAGAGAAATAATTCCGGAGTATGCTTTCTACCAACTTTCATTCTCTGCTCCAAAAAGCAAATTATTTCTTTACATATAAAATAAATTGTGGCGGGGTACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACGATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCTGGGCCGTAGTGGTGTGCGTCTTTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA
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GCTTGAGGTGCAGTGGAGCCATCTAGGCTCACTGCAGCCTCCACCCCCTGGGTTCAAGCCATTCTCCTGCACAGGCGTGTGCCACTACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGGTGGCCAGGGTAGTGTCAAACTCTTGACCTCAAGTGACCCACCTCAAGTGATCCGCCCTCCTTGGCCCCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCAACCAGTTTCTTAATAAGAACTAGTACTAAGCTATAACTTTGGTGAGCCGGCTGGGTGCGGTGGCTCGCACCTGTAATCCCAGCACTTTGAGAGGCTGAAGTGAGGAACAACATGACGAAACCTGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATGCTTGTAATCGGGAGGCTGAGGCAGGAAAATTGCTTGAACTGGAGAGGCAGAGGTTGCAGTGAGCTGAGAAAGTGCTACCACTGCAGCCTGGGCACCAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAATTTGGCCGGACACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCTTCTCTATTAAAAATACAAAAACTATTCTCTATTAAAAATACAAAAACTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCTAGATGGCGCCAGTGCACTCCAGCCTGGGTGACAGGAACAAAACTCCATTAAAAAAAATTTTTTTTTCTGTGAGCCTACCTACCTAGGTTGGGACCACTCAGGTAGGATGTTCTATGATGGGCACCTTGGGGCACCACGGTGCAAAGGACAAAGCACTGGCTGCTGGGAGAATAGGAGAAGCAGAGGCTTTGGAATTCGACCTACTTGGCTCCGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTAGACTGCTTGAGCCTAGGATTTCGAGATTAGCCTGTGCAACATTGTAAAACCCCATCTCTATTTTATGAAGGAAAAAAAAAAAAAAAAAAAAAAGACCTACTCAGCTGAATCTCAGCTTGGCTGCTTACTCACCATACCGTGTCATCTTAGCCGAATGATCTGGCCCATCTGCCCTCTAGTTTCTTCACATATAAAAAGTGCCTACGAAATGCCTACCACAAAGCCTGACATAGACAAATAATTTGTCCTGGTTTTGCCACTGACTATGATTCCAGGTCTCATTTTCTCCATCTGTACAAAAAGGTTCACATAGATTACTCATCTCAAGTCTCAGCCAACGGTGTAATTCTATGATTGTTAATAAATTGTATTACCAAAAGAAGCTAAAACTATTTGGAAGCAATCCAATTTTCCAATGGTAATAGTTTTATCATTTTTCATTTTGAAGACATAACCTAGCTTCTACTGGTCTGGTCTGCAAGGGTATGCTCATTGTTTCTATTGTGCAAATAAAATGTAGGTTAATATGTAGGAAATGGGGAAAATTTCTCAAAGTGAGAGCCACTTAGACCATTTACTATAAAGCCCTCATTTTAGAAAACCAGATGAAAACTCAAATGGTACCTTCCTAGTTAAAAAATTAAAAAAAAAACCCAACACAAAACTTGAACCTACCAGTTTGATATGCAGCTTCTGCTGCCATCTCTGAAAGACCAACTGCAGTCATCCAAGTGGTTTCCAGCTTCAAGTACTCTTGGTGTTTTGAAGTCATCTATATAAATCAAGCAAAGTGCTTCAGACAGCATAAGAGGTCTAGCCCATTTAAATGGACTTAAAGTAGTAGATTTAGAGAACACTGATTATATTGATTAGACTTAATTCAATAATTTAGATACCACATGAGGTAGGTGCACTAACACAGAAATGCCTAGAACTTTCTGCTTACCTCAGCTCTGGCTCCTATGATCACCTGCCACACTTCATCTTCCTCCTCTAAATTCATTTTCCCAAGTAAACTTGTATATTGTCGGTAAAGAGAAGTTAAGGTATAAACAGCCTACAAATAGAGAATGAACAAGTCTGAGTAAAGTAAGTGAGACATATCAGAAGGAATAGAGAGATTTCCACCTCAAGGAAATTAAGTCCCATTACAGCAAACTGGCTCTTCCATCCTGCTGCCTCAATGAAATTGCACTATTATCCTATGAAGTAAAGGTATCAGGACATTAGTATCTCCATCTGTAAACTTCTGTGTTTTTAAAAGCTTGTCAGCAATTCAGACACAGAAAGAGAAAACAATGCAAGGGAAAACTTTAAAGGTTGAGGGGAAAAAAGCTGCTGGAAAATATATGTAAAACAAATGCACAAATGAGACTTCAATACTTTTGATTATCCATATACGCTAAAAAATTTTTATTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGACACGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGAAGGAAAATCGCTTGAACCCAGGAGGCGGAGATTGCAGCGAGCTGACATCACTCCACTGCACTCCAGCCTGCGTAAGCAAGACTCCATCTCAAAAAAAAAAATTTATTATTTTTTACAAACAGGATGCTATGTCACCCAGACGGAAGTGCACTGGCATGTTCATAGCTCACTGTAATCTCAAACTCCTAGACTCAAGTGATCCTCCCACCTCAGCCCCTGGAGTAACTGGGACTACAGGCACACAACACACCATGCCTGGCTAAGTTTAAAATTTTTTTTCTGCTAGAGATGGGGCTTGCTACATTGACTGGGTTGGTCTTGAACTCCTGGCCCCAAGTGATCCTCCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGATGTGAGCCACCACGCCTGGCCCATATACTCTCTTTTCTATTAGGTTAGATCAGTGGCTTTTAAATAATCCTCACAGAGCAACCTCTGTTGATGGACCACAGGCCCCTGTGCCCTTAACTGAACCATATCAGCTTCACTCCTGTTTTATATACTAGGCTGCCACATTTAAGATTTTTCTGTAAAAAAAAAAAAAAAGGTTCCTGGGAAAAGTCTAAAAACGAGTGATTTAGATCAGGGCTCAGCAAACTTTTTGAAGGGCCTGACAGTAAATATTTTGGGCTTTGTGGGCCTTACAGCCTCTGTTGAAACTACTCAAATCCTCAAAAACCGTTATTGACAACACATAAACAAATAGGCCTGGCTATGTTTCAATCAAATACCAACATGGGTATCAGACACAATTTGGTTGTGAGCCATTATTTGCTAAACCATGGTTTAGAAGATCAAGAGTTAAGAGGAGACATACCTTAGTATATTCAGTAATAGCTTCAATCAACGCATATGTGGTCTGAGAGAGAAAGGTAGAGGTGCTATCTGTTACCAAAGACACTGCTCTCCTCATCAATGCTTCACTACTAAGGGAATGAGGCTCTGATTTCTGAAAGACACAAACATTGTCACTCAACCTCTAAAGCTCAAACTGAGAACTTTTTCACCAATAGGCAAGCAAAAAACGTAATTGTCATGCTGCTTAGTGTTTTAGGCTGAAACTGCACTATATTTCTTTGGGTTATATTTTTTAAGGCCTTATTTTGGCAATTTAAGACAATATAGAGAAATAATTCCGGAGTATGCTTTCTACCAACTTTCATTCTCTGCTCCAAAAAGCAAATTATTTCTTTACATATAAAATAAATTGTGGCGGGGTACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACGATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCTGGGCCGTAGTGGTGTGCGTCTTTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA
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Task1_train_18890
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Chromosome 12 houses a mutation in gene VPS33A (VPS33A core subunit of CORVET and HOPS complexes). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Mucopolysaccharidosis-plus syndrome
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CAGTCTCCTGCAGGAGTAGCAGCAGCTGTGGCTGCTGGTCTCCAAGATCATCAAGAGATACACCTGGAGAAGGCTGAGGTCACCAGAGAGGGGGCTGAAACAGTGTTTTCAGCTGAGTACGGAGTGGCCACAGACTGCTAGAAAAGTACACGTGGCAGTTACCATGGAAACGAAGTGGCCAGATGCTGAAGAAGCAAGAGTTGCCCCTGCTCACTGTGGGACCAGTTGGATGTTGGGCCCTTGATGGACAGAAGAGAAAACGGAAACCTCAATGGAGGCACCCACCACTGCTGTGTCTGGAGTTAACGTGTGTGCTAAGAAACTGTCTTTGAATTACTTCAAAGGCTGAATTCTCAGAAGGTTGCTCCCCAATTATCACATTCTTCCATGTCAAAAGCCCCTGATAAGTATGGAACCTAAGGAGATGTAGCTGATCACATAGAGCATAAACTTTGTTTCTGGGCAAGAAGCTCCCCTAAACCTCTTGCTTTGTAAGAAGTAGAAGGAAGCAAACTTGCCTTAGTGATCAGTTGCGACAGTGACTGATGACCCTAAATATAATCTCCCACACTCTGCAGGAAAAAGAAATCTCAACTCAGTGATAAAATGATCTCCAGCTCCCAACACTTAACCACTGTCCTAGGCCTGATGCGCCTTGAAGAAATACAGCACTGGGGATTAGAGGATGAACTTTCTCTTTTTATTTTCAGTTTCACCTCCTCAGTCTCAGCTTTCTTATTTTAAGAGCTGGCCCCGTTTGTCTGGCTGAATGGATTATCTACCCCCACCATCCTTAATGTATTTCCAGAGGTCTCTAATGAAGACCCTGAGCTTAGAAAACTCAAAACCAGTGCTGCTTTTACTCAGGTTGATTTTCTTCTATTCTTCTTTCTTCAGCAGATTAGGGGCCAGGCACGGTGGCTCAGGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATGGCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGGTGAGACCGTGCCACTGCACTCTAGTCTGGGTGACAGAGCAAGACTCCGTCTCAAAGGAAAAAAAAAAAGGGAATACAAAAGAGACGGAGAAAGCAGTAAACAGTAGTATAATTTAAGAAGCTGACCCCAGAATATATTCTGTATTCCCATGTTTCTTCTATGGGGTTTTACTTCCTTTCAGCAATTTCTTCAAAGAGGTAGTTTATTCTGCAGTACACTTGTTAAGTCTCCTCTGAACATCCTAGAAAGGTTTTTCCATCAGAGCCTCTATCCAACTGGTTCCATTCATTAGTTTAGTGGTGGCAATGACATATTCTGTACCTCCATCTTCCAACTGGGAGAGAAATCGCAGGGCAGCAATTTCAGCGAAGGTTACGCCCCCAAGGAAAAATATCAGAGTCACTCGGTTTTCTCCCGGTTGACCTAAAATTTAAACATTTCAGAATTAAAAACTATTTATTATTAATGCTTCTCTTCCCACCTCTTCAAACATTTTATCATTCATAAGAATAAACAAGTGCCTTCATCCAGACAGTTCATCTGAAACCTAAGAATACTGATTTTGATCTCAACATTTTTTTTTAACTTCTGAGATTCTCAACACAGAAGTTGAAAGCTGCTATCCCTCAGGGAATAATCCGATTCGAGTTCTTACTACATACATTAGCAACGAACAAAAGAGGTGTATTTAATTCTGACTCCTAAGTGCTTTACTATTTTACAAAGCAACTGTACAATACCTGAAAACCACACTAACAGTACATAATTATCTGTAGATGCTGGACTGGGACTTACGTTTCTTCTGCAGTCCTGTGGGCAGTGGCTGCCGCTCCTCAAAGTGGGGCCCTGGGAGGATGCGGAGGACCTCCTCGATGCTCCGCCAGCCAGGCCGGGAAAGCAGCTGGGCCAGCCGCACACTGAGCGGGGCATACCCACTGTACACATACGATATGTCCGTGGGGTTCTGTGAGATAATTAAAGAACAAAAACCCTATAGATACAGAGACTTAGAGCTACCTGACTGTGGCCTTTTGGGTAATCCAAAATTATTTGATTTGGATTTAAAGATATACAACCCCCACCCCTGCCATGCCTTGTTCTAATCCACCCTAGCTGGGCTCAATTTTTAGCAGCCAGAGCTTCAATTTTGACTGAAATCTTGAAAAGCCACTCAAAGCAGCTCTAGGTACAGAAGATGAAGAATTATTTGGTTTGGCATGAAACTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATTTCAGCTCACTGCAACCTCCGCCTCCCTAGTTCAAGCAATTCTCCTGCCTCAGGCTCCCAAAGAGCTGGGATTACAGGTGTGCACCACCACTCCTGGCTCATTGTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTTCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCCTGAGCCACCGCGTCCAGCCAGCATGAAACATATTGGGGGGAACTTGGCACTCCCTAGCTGAGCAATGATGTGCAATAACCTTTGAACTTAGCAATTCTACTTTTAGGCATTAATCCTACAGAGGTGCTTGCAGAACAAAAGATAATAGACCAAAGTATAAACGTATTAACTGCAACACTGCATGTAACAGTAAAGACTGGAAACAACCTGAATTTCTATCAATAGCAATCTGTTAAATCATTAAATAAGGTATAGCCTCAAAACCACTATGTAGCAATTTAGAAAAATTAAAAAGAAGGGGAAGATCACAGAAGACCCTTCAAGATCCTTTGTTAAGTGGTGGGTGGGTCCAGAGTCAGAAAGGTCAGAACAGTGAAGACAGCTGAACTAATATGTACATGATAGACTCTAGACATTAAGGGTCTCTATTTTCCCACCGGGAAAAAATCATTTAATTTTGCTCCTGACAGAGGAGACTGTCTAGTTATGAGCTTTTGTTGCAAGAGGCGGCCTAATAAAGTTCCTTATGAAAAACCAAAAAAGACTGAAATTTAGAAACATTAGAATAAGTAATAAATGTAAAGCAAAGTGCACCCCACTTTGGAGACCAACAGTAGAGAATATGCACTCTTTATGTAAAAATGTATATGCACAGAATCTTTCTGGAAGGATAGATAAAAAACTGGCCACAGTGGCTGCCTCTGAGGGGAAACTGTGGAAGGAAACTCACTTGGCCCTGATGGCCCTGCTTTTGCATAGCTTTTTTTTTCCCTTTTTCTTTTTCTTTTTGAGATAGGGTCTCATTCTGTCGCCCATGCTGGAGTGCAGCAGTGCAATCTCAGCTCACTGTAGCCTCAACCTCCCAGGCTCAGCCTCCTGGGAGGCTCCCACCTCAGCCTTCTGAGTACAGTAGCTGGGCCTACAGATGCATGCTCCACCATGCCCTGATCACTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCGCGCCTGGCCATGGCTGGCTTGTTTATGAGTGCTGGACATCTCCACTGACTCCTCTAGACACTCTCCACCCTTCTCCGCAATGCTCTGTGCCCGGAGATGGACCTGTGCGTCCCACACCAACACACTCCAATGCCTTCTCTTTGGGTCTGACCAAGACAAAGCACCAGAGTGAACTGGAGAGTGGGCAGCAGTGTGAGGATGACGTTGTCACTGGCCAGCTTCCTCTGCTGGAGGTTGACCATACCCTCAGCCAGAGGCCCCTCACCCCTTACCTCACCAGATGGCCTCACCACAGCTCTTCTCTCCAGGTTCTAAGACAAGTTTCTAGAACACCCCCCTCTCCTTGTCCTTCAGGCCGTGGCTGGCAAGGGCTCCCCACTGC
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CAGTCTCCTGCAGGAGTAGCAGCAGCTGTGGCTGCTGGTCTCCAAGATCATCAAGAGATACACCTGGAGAAGGCTGAGGTCACCAGAGAGGGGGCTGAAACAGTGTTTTCAGCTGAGTACGGAGTGGCCACAGACTGCTAGAAAAGTACACGTGGCAGTTACCATGGAAACGAAGTGGCCAGATGCTGAAGAAGCAAGAGTTGCCCCTGCTCACTGTGGGACCAGTTGGATGTTGGGCCCTTGATGGACAGAAGAGAAAACGGAAACCTCAATGGAGGCACCCACCACTGCTGTGTCTGGAGTTAACGTGTGTGCTAAGAAACTGTCTTTGAATTACTTCAAAGGCTGAATTCTCAGAAGGTTGCTCCCCAATTATCACATTCTTCCATGTCAAAAGCCCCTGATAAGTATGGAACCTAAGGAGATGTAGCTGATCACATAGAGCATAAACTTTGTTTCTGGGCAAGAAGCTCCCCTAAACCTCTTGCTTTGTAAGAAGTAGAAGGAAGCAAACTTGCCTTAGTGATCAGTTGCGACAGTGACTGATGACCCTAAATATAATCTCCCACACTCTGCAGGAAAAAGAAATCTCAACTCAGTGATAAAATGATCTCCAGCTCCCAACACTTAACCACTGTCCTAGGCCTGATGCGCCTTGAAGAAATACAGCACTGGGGATTAGAGGATGAACTTTCTCTTTTTATTTTCAGTTTCACCTCCTCAGTCTCAGCTTTCTTATTTTAAGAGCTGGCCCCGTTTGTCTGGCTGAATGGATTATCTACCCCCACCATCCTTAATGTATTTCCAGAGGTCTCTAATGAAGACCCTGAGCTTAGAAAACTCAAAACCAGTGCTGCTTTTACTCAGGTTGATTTTCTTCTATTCTTCTTTCTTCAGCAGATTAGGGGCCAGGCACGGTGGCTCAGGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATGGCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGGTGAGACCGTGCCACTGCACTCTAGTCTGGGTGACAGAGCAAGACTCCGTCTCAAAGGAAAAAAAAAAAGGGAATACAAAAGAGACGGAGAAAGCAGTAAACAGTAGTATAATTTAAGAAGCTGACCCCAGAATATATTCTGTATTCCCATGTTTCTTCTATGGGGTTTTACTTCCTTTCAGCAATTTCTTCAAAGAGGTAGTTTATTCTGCAGTACACTTGTTAAGTCTCCTCTGAACATCCTAGAAAGGTTTTTCCATCAGAGCCTCTATCCAACTGGTTCCATTCATTAGTTTAGTGGTGGCAATGACATATTCTGTACCTCCATCTTCCAACTGGGAGAGAAATCGCAGGGCAGCAATTTCAGCGAAGGTTACGCCCCCAAGGAAAAATATCAGAGTCACTCGGTTTTCTCCCGGTTGACCTAAAATTTAAACATTTCAGAATTAAAAACTATTTATTATTAATGCTTCTCTTCCCACCTCTTCAAACATTTTATCATTCATAAGAATAAACAAGTGCCTTCATCCAGACAGTTCATCTGAAACCTAAGAATACTGATTTTGATCTCAACATTTTTTTTTAACTTCTGAGATTCTCAACACAGAAGTTGAAAGCTGCTATCCCTCAGGGAATAATCCGATTCGAGTTCTTACTACATACATTAGCAACGAACAAAAGAGGTGTATTTAATTCTGACTCCTAAGTGCTTTACTATTTTACAAAGCAACTGTACAATACCTGAAAACCACACTAACAGTACATAATTATCTGTAGATGCTGGACTGGGACTTACGTTTCTTCTGCAGTCCTGTGGGCAGTGGCTGCCGCTCCTCAAAGTGGGGCCCTGGGAGGATGCGGAGGACCTCCTCGATGCTCCGCCAGCCAGGCCGGGAAAGCAGCTGGGCCAGCCACACACTGAGCGGGGCATACCCACTGTACACATACGATATGTCCGTGGGGTTCTGTGAGATAATTAAAGAACAAAAACCCTATAGATACAGAGACTTAGAGCTACCTGACTGTGGCCTTTTGGGTAATCCAAAATTATTTGATTTGGATTTAAAGATATACAACCCCCACCCCTGCCATGCCTTGTTCTAATCCACCCTAGCTGGGCTCAATTTTTAGCAGCCAGAGCTTCAATTTTGACTGAAATCTTGAAAAGCCACTCAAAGCAGCTCTAGGTACAGAAGATGAAGAATTATTTGGTTTGGCATGAAACTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATTTCAGCTCACTGCAACCTCCGCCTCCCTAGTTCAAGCAATTCTCCTGCCTCAGGCTCCCAAAGAGCTGGGATTACAGGTGTGCACCACCACTCCTGGCTCATTGTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTTCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCCTGAGCCACCGCGTCCAGCCAGCATGAAACATATTGGGGGGAACTTGGCACTCCCTAGCTGAGCAATGATGTGCAATAACCTTTGAACTTAGCAATTCTACTTTTAGGCATTAATCCTACAGAGGTGCTTGCAGAACAAAAGATAATAGACCAAAGTATAAACGTATTAACTGCAACACTGCATGTAACAGTAAAGACTGGAAACAACCTGAATTTCTATCAATAGCAATCTGTTAAATCATTAAATAAGGTATAGCCTCAAAACCACTATGTAGCAATTTAGAAAAATTAAAAAGAAGGGGAAGATCACAGAAGACCCTTCAAGATCCTTTGTTAAGTGGTGGGTGGGTCCAGAGTCAGAAAGGTCAGAACAGTGAAGACAGCTGAACTAATATGTACATGATAGACTCTAGACATTAAGGGTCTCTATTTTCCCACCGGGAAAAAATCATTTAATTTTGCTCCTGACAGAGGAGACTGTCTAGTTATGAGCTTTTGTTGCAAGAGGCGGCCTAATAAAGTTCCTTATGAAAAACCAAAAAAGACTGAAATTTAGAAACATTAGAATAAGTAATAAATGTAAAGCAAAGTGCACCCCACTTTGGAGACCAACAGTAGAGAATATGCACTCTTTATGTAAAAATGTATATGCACAGAATCTTTCTGGAAGGATAGATAAAAAACTGGCCACAGTGGCTGCCTCTGAGGGGAAACTGTGGAAGGAAACTCACTTGGCCCTGATGGCCCTGCTTTTGCATAGCTTTTTTTTTCCCTTTTTCTTTTTCTTTTTGAGATAGGGTCTCATTCTGTCGCCCATGCTGGAGTGCAGCAGTGCAATCTCAGCTCACTGTAGCCTCAACCTCCCAGGCTCAGCCTCCTGGGAGGCTCCCACCTCAGCCTTCTGAGTACAGTAGCTGGGCCTACAGATGCATGCTCCACCATGCCCTGATCACTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCGCGCCTGGCCATGGCTGGCTTGTTTATGAGTGCTGGACATCTCCACTGACTCCTCTAGACACTCTCCACCCTTCTCCGCAATGCTCTGTGCCCGGAGATGGACCTGTGCGTCCCACACCAACACACTCCAATGCCTTCTCTTTGGGTCTGACCAAGACAAAGCACCAGAGTGAACTGGAGAGTGGGCAGCAGTGTGAGGATGACGTTGTCACTGGCCAGCTTCCTCTGCTGGAGGTTGACCATACCCTCAGCCAGAGGCCCCTCACCCCTTACCTCACCAGATGGCCTCACCACAGCTCTTCTCTCCAGGTTCTAAGACAAGTTTCTAGAACACCCCCCTCTCCTTGTCCTTCAGGCCGTGGCTGGCAAGGGCTCCCCACTGC
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Task1_train_18891
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Given this variant in gene ZCCHC8 (zinc finger CCHC-type containing 8) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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TTCTTTAATTAAAAAAAAAAAGGAAACACTTAAGGTGACTTCTCTAACTTAAGATACTATACCTTTTCCATCATAGAGTGCAAGCCCCGAATTCTCCAATTCAGCCTCTTTGAGCCACCCTGGTGGGTACCCTAGCTGGCGCATCCGATAGATAAAAGGTGGAAGACTCTTGTCTGTCACACCTAGTGCATCTTGAAGTTCCTCACTAAGTAAAAATAAAGGAGGAAGAAAAATACTGAATTCTTATTTGCATGAAAACACATAGTATTCTGGTATTTTAAAACATTTCTTGCTTATATTACATACCATGACGTCTAACAAATATAAATTAAAATTTAAAGAAGTGTTTCTAAATGAATTAATGTATATTACCTAGGGCTTTGCCAGAGTACACTTATATCCTGATAATTAGCCCAAAGAGACACAGAACATTCCAAATGCTAGGGAAATAAAAATGACCTTCTATGGTAAAATGCCATTAGTACCTAATAACTCCTGGCTTGAATCTTCCAAATCTTTCTTCTACTTCTTCTGCGTGGTATCGCTGCTGGAAATTCTGATTGTTTGCTTCTCCACAGGCATCCATATACTCTTTTCTCTTTTCACTTATTCGAGCAGCATTCCGAGGCTACATCATGACACATTTGAAAAGAATGGTTTCATGCAACTCAGAAATATTTCAGAAATTAAATAAAAATACTTTTTTTTAGATCAAGTAAACAGATTATTTTAGTTTTAATGTATAACGAACAAGTGTAAAAGAGGGTGAATATTTTAGAAAAATACGTAAGGAAAGGAGCAGTCTATTTATTACCTATTATCATAAATTAAATCAAGTTTTTAGGATAAACTCTACAATTTAATTCTCATGTTTATTCATCTCAAATACAAAGAGTACTGTTTTAAATTATTTACTGAAAAAATTTAATGTCTTAAAATATGAACACAAATTTGAAAAGATTTCAAATTAAAGGACACTGTTTTAAATTATTTACTGAAAAAATTTAATGTCTTAAAATATGAACACAAATTTGAAAAGATTTCAAATTAAAGGACACAAGATTTCAAATTAAAGGAACAAAGAAAGTTCCTTCATGTCATACAATAACATAAATGTGTTGAAAACATTAGAAAGCTCTTGTTCAAAGACTTTTCTTAACATGAGAAAAATTTACCATTGGGCAATCTTTCATTTGGTGTTCTTCAGAACCACAATTGAAACAGTGAGGCTTTGGCCTATTTGGTCAAAAGACAAAGATTTTTATAATGTCAATAAAAATAGAAAAGCAAATCAATAAAATTCTATATGACAGCAAAGTGTATCAGAGAGACAAGAAAGCAAGTTGATCACAGATCACTAATATCTGCAACAAGAAGTACACTTTAATCTCCTTTATTTAGTGATTTAAATAGTACTATGCAGAGTCTTTTAACCAAGAACCCTTCTGTTCCTGACTGATCTGTTACCTCTTTTGAGTTTTTTCAGTGGTTAACAACGAAGAATCAAGGTGAACACATTGATCATATTTCCGTTAGGTAACATGGAAAGAAGGCAGATGGTTATAAGACTGCAATCAAATTGACAGCAACAATTATACCTTTCCACCCACCCAGGCACATTAGGTGAGAACCAATGAATTCCAGGAAGCAGATGATTCATTTAAACATTTAACATATATGTATGGATTAAAATTCTAGCTCAATCTGTAATTAACCTTAGAGTAAACCAGCAGTAAAGAACATGAACTTTTCAAGCCAAAAGTTTATGATTTTGGTTAAAAAAGTAAATAAGTAAAACAAAACAACTCCCCACACAAACCTTTTTGCCTTTACTTGTATTTCTTGCCCTTCTAGAGAAACAATGTGGCTGAAGACTTGATGGTACCTTTAGTGAATTTTATTAAGGAATAGTTATCATGGTCTGCAAAATTTGGAAATTGTTTTAAAGGTGAACTTAGTGGCAAGATGCATAAAAGATCTTCATTCACTATGTAGGATACTTGGGTATTTCCCATCCTTCGGAAAGCTGAGGGTTTTCATTTAGAAGCGGTTGCCCCAATTTATCAAGGCAAAAATTAGTAAAATACAGGACACTTCCTACAACCTGCAGAAAACAAGTCAAAAAATATTGCTATTTAAGCAGAAAAAAAGACATTAAATAATGTAAGATTATGATTAACTGTTTTAACAATTTATTTTTGGATGGAATTATTAGAAATAATAACTTCCTTGTTATTAAGGAGCCAGACTTTGATGTGTAAGTAGAAACTACATCGTCAGTTCCCTCTCTCTGCTAGATCAGTTTTTCCTCTGTATTGGATCATGACTATCAGCTGCATTCTCTACAGAATTCAAACAAAAAATGAAAACCTTGACTCTCATATTTCCCTCCAATGCCCCATTTCATTGCTTCTCTTTGCAAGACATGCAGACCCTTTAGTTATTGTTTCCATTTCCTTTCTTCCCATTTACTCTTTTCTTATCCCTCCAGTTCTTTTTGAAAAAATTCCATACAGACAAGTTGGAAAAGTGGTACAATGAATACCCAATGTATCCTTCACCTAAACAACTGTTAATAGTTTAACATTTTTGTCTGCCTCTCTCTCTCTTTACACATACACCGAACACACACACATACACTTTTTTGTTTGTTTTGAGATAGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTGCCAGGCTCAAACGATCCTCCCACCTCAGCCTCCTGAGAAGCTGGGACCACAAGCACGGTCAGCTATTTTTTTGCCCAGCTATTTTTTTGTATTTTTAGTAGAGGCAGTCTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTTAAGCGATCCACCCGACTCAGCCTCCCAAAATGTTAGGATTACAGCCGTGAACCACTGCACCTGGCCTCACATATACTCTTTAATTTTTTTTTTTTTTTTGAGGCAGGGTCTTGCTCTGTTGTCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACTTCAAAGTCCTGGGCTAAAATGATCCTCCTGCCTCAGTCTCCTGAGTAGTTGTGTCACTACACACAGCTAATTTTTTTTTTTGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTAAACTCCTGGCCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGTGTTGAGCCACTGTGCCTGGCCTCCATTTTTTTAATGACACTGCCCTCTCTCTTGAACATTTCCAGTAATGCTTCTATACATATCACTGGGCTGAGCTCCTAACAATGGAGCTTCCCAATGACCTCCATGCAGCCAAATTCAATGAACAGTTCTCACTCTTCATCTTTCTTAACCTAGCTGTGACAATTGACACAATTCTTCCTTCCTCCTAAAAACATCTTCCTCCCTTGTCTTCTAGGACATGCTTCTCCGTTCTCTTCTTTCCTTGCTGACTGAGCCTCGCTCTTCTGTGCTAGACTCTTCTCATCCCTCTATCTTCCATGTATTAGAGTGCCCTAGGTCTCAGTCCTCCTCTCCACTTTCACTACTCAGGTGGTTCATCCTGACCCATGGTATGTAGTATAATATGTATGCTTACGACTTCTAAAGGTCAAGTTATTATTATTATTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCAATCTCAGCTCACTGCAACCTCCGGTTGAACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGTCAGGCTGGTCTCAAACTCTCGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACTGCGCCTGGCCTAAGTTATCACTTTTTAATTATTATTTTTTCACTGGGAGCATAGATTGAAGTTGCCCTGAATATATGTTCTCCTTTACGGTCAAGTTCTGATCAGTCCTAACCTCCAATTTTATATATGGAAGTGTCAACTTGACAGCTCTC
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TTCTTTAATTAAAAAAAAAAAGGAAACACTTAAGGTGACTTCTCTAACTTAAGATACTATACCTTTTCCATCATAGAGTGCAAGCCCCGAATTCTCCAATTCAGCCTCTTTGAGCCACCCTGGTGGGTACCCTAGCTGGCGCATCCGATAGATAAAAGGTGGAAGACTCTTGTCTGTCACACCTAGTGCATCTTGAAGTTCCTCACTAAGTAAAAATAAAGGAGGAAGAAAAATACTGAATTCTTATTTGCATGAAAACACATAGTATTCTGGTATTTTAAAACATTTCTTGCTTATATTACATACCATGACGTCTAACAAATATAAATTAAAATTTAAAGAAGTGTTTCTAAATGAATTAATGTATATTACCTAGGGCTTTGCCAGAGTACACTTATATCCTGATAATTAGCCCAAAGAGACACAGAACATTCCAAATGCTAGGGAAATAAAAATGACCTTCTATGGTAAAATGCCATTAGTACCTAATAACTCCTGGCTTGAATCTTCCAAATCTTTCTTCTACTTCTTCTGCGTGGTATCGCTGCTGGAAATTCTGATTGTTTGCTTCTCCACAGGCATCCATATACTCTTTTCTCTTTTCACTTATTCGAGCAGCATTCCGAGGCTACATCATGACACATTTGAAAAGAATGGTTTCATGCAACTCAGAAATATTTCAGAAATTAAATAAAAATACTTTTTTTTAGATCAAGTAAACAGATTATTTTAGTTTTAATGTATAACGAACAAGTGTAAAAGAGGGTGAATATTTTAGAAAAATACGTAAGGAAAGGAGCAGTCTATTTATTACCTATTATCATAAATTAAATCAAGTTTTTAGGATAAACTCTACAATTTAATTCTCATGTTTATTCATCTCAAATACAAAGAGTACTGTTTTAAATTATTTACTGAAAAAATTTAATGTCTTAAAATATGAACACAAATTTGAAAAGATTTCAAATTAAAGGACACTGTTTTAAATTATTTACTGAAAAAATTTAATGTCTTAAAATATGAACACAAATTTGAAAAGATTTCAAATTAAAGGACACAAGATTTCAAATTAAAGGAACAAAGAAAGTTCCTTCATGTCATACAATAACATAAATGTGTTGAAAACATTAGAAAGCTCTTGTTCAAAGACTTTTCTTAACATGAGAAAAATTTACCATTGGGCAATCTTTCATTTGGTGTTCTTCAGAACCACAATTGAAACAGTGAGGCTTTGGCCTATTTGGTCAAAAGACAAAGATTTTTATAATGTCAATAAAAATAGAAAAGCAAATCAATAAAATTCTATATGACAGCAAAGTGTATCAGAGAGACAAGAAAGCAAGTTGATCACAGATCACTAATATCTGCAACAAGAAGTACACTTTAATCTCCTTTATTTAGTGATTTAAATAGTACTATGCAGAGTCTTTTAACCAAGAACCCTTCTGTTCCTGACTGATCTGTTACCTCTTTTGAGTTTTTTCAGTGGTTAACAACGAAGAATCAAGGTGAACACATTGATCATATTTCCGTTAGGTAACATGGAAAGAAGGCAGATGGTTATAAGACTGCAATCAAATTGACAGCAACAATTATACCTTTCCACCCACCCAGGCACATTAGGTGAGAACCAATGAATTCCAGGAAGCAGATGATTCATTTAAACATTTAACATATATGTATGGATTAAAATTCTAGCTCAATCTGTAATTAACCTTAGAGTAAACCAGCAGTAAAGAACATGAACTTTTCAAGCCAAAAGTTTATGATTTTGGTTAAAAAAGTAAATAAGTAAAACAAAACAACTCCCCACACAAACCTTTTTGCCTTTACTTGTATTTCTTGCCCTTCTAGAGAAACAATGTGGCTGAAGACTTGATGGTACCTTTAGTGAATTTTATTAAGGAATAGTTATCATGGTCTGCAAAATTTGGAAATTGTTTTAAAGGTGAACTTAGTGGCAAGATGCATAAAAGATCTTCATTCACTATGTAGGATACTTGGGTATTTCCCATCCTTCGGAAAGCTGAGGGTTTTCATTTAGAAGCAGTTGCCCCAATTTATCAAGGCAAAAATTAGTAAAATACAGGACACTTCCTACAACCTGCAGAAAACAAGTCAAAAAATATTGCTATTTAAGCAGAAAAAAAGACATTAAATAATGTAAGATTATGATTAACTGTTTTAACAATTTATTTTTGGATGGAATTATTAGAAATAATAACTTCCTTGTTATTAAGGAGCCAGACTTTGATGTGTAAGTAGAAACTACATCGTCAGTTCCCTCTCTCTGCTAGATCAGTTTTTCCTCTGTATTGGATCATGACTATCAGCTGCATTCTCTACAGAATTCAAACAAAAAATGAAAACCTTGACTCTCATATTTCCCTCCAATGCCCCATTTCATTGCTTCTCTTTGCAAGACATGCAGACCCTTTAGTTATTGTTTCCATTTCCTTTCTTCCCATTTACTCTTTTCTTATCCCTCCAGTTCTTTTTGAAAAAATTCCATACAGACAAGTTGGAAAAGTGGTACAATGAATACCCAATGTATCCTTCACCTAAACAACTGTTAATAGTTTAACATTTTTGTCTGCCTCTCTCTCTCTTTACACATACACCGAACACACACACATACACTTTTTTGTTTGTTTTGAGATAGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTGCCAGGCTCAAACGATCCTCCCACCTCAGCCTCCTGAGAAGCTGGGACCACAAGCACGGTCAGCTATTTTTTTGCCCAGCTATTTTTTTGTATTTTTAGTAGAGGCAGTCTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTTAAGCGATCCACCCGACTCAGCCTCCCAAAATGTTAGGATTACAGCCGTGAACCACTGCACCTGGCCTCACATATACTCTTTAATTTTTTTTTTTTTTTTGAGGCAGGGTCTTGCTCTGTTGTCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACTTCAAAGTCCTGGGCTAAAATGATCCTCCTGCCTCAGTCTCCTGAGTAGTTGTGTCACTACACACAGCTAATTTTTTTTTTTGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTAAACTCCTGGCCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGTGTTGAGCCACTGTGCCTGGCCTCCATTTTTTTAATGACACTGCCCTCTCTCTTGAACATTTCCAGTAATGCTTCTATACATATCACTGGGCTGAGCTCCTAACAATGGAGCTTCCCAATGACCTCCATGCAGCCAAATTCAATGAACAGTTCTCACTCTTCATCTTTCTTAACCTAGCTGTGACAATTGACACAATTCTTCCTTCCTCCTAAAAACATCTTCCTCCCTTGTCTTCTAGGACATGCTTCTCCGTTCTCTTCTTTCCTTGCTGACTGAGCCTCGCTCTTCTGTGCTAGACTCTTCTCATCCCTCTATCTTCCATGTATTAGAGTGCCCTAGGTCTCAGTCCTCCTCTCCACTTTCACTACTCAGGTGGTTCATCCTGACCCATGGTATGTAGTATAATATGTATGCTTACGACTTCTAAAGGTCAAGTTATTATTATTATTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCAATCTCAGCTCACTGCAACCTCCGGTTGAACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGTCAGGCTGGTCTCAAACTCTCGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACTGCGCCTGGCCTAAGTTATCACTTTTTAATTATTATTTTTTCACTGGGAGCATAGATTGAAGTTGCCCTGAATATATGTTCTCCTTTACGGTCAAGTTCTGATCAGTCCTAACCTCCAATTTTATATATGGAAGTGTCAACTTGACAGCTCTC
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Task1_train_18892
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A variant on Chromosome 12 in gene EIF2B1, LOC126861664 (eukaryotic translation initiation factor 2B subunit alpha| CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Vanishing white matter disease
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GGAATTGTGTGGGGCTGTCAGATTTCTGTTACGTTGGCGACCAGGGTGGGGAATTTGCTCTATTTGCAGAAGCCAATCTGAGAGCTTATAGTTCTTGAGTTAAAACTGCTGGTTTCACTACAACACTATTGCTGAAAAATTTAGTAGTTTATTGGTTTCTTCTGCACTTAGGGTTCTGATATTGAAGATGAGGACATGGAAGAACTTCTTAATGACACAAGACTCTTGAAAAAACTTAAGAAAGGCAAAATAACTGAAGAAGAATTTGAGAAGGGCTTGTTGACAACTGGCAAAAGAACAATCAAGACAGTGGATTTAGGGATCTCAGATTTGGAAGATGACTGCTGATTCCAGTGCCACAGATGAACCCACAAGGACATAGCTGTTCCCTAACTTGGTGGATGGCTCCAGTTTGCTTTTAACGAAAATCACAACTTCAGGAGACATCTGAAAAGAATGATGTCTCTGAAAGCTGTCCTTTCAGATGAGGGAGAAATGAAGGATTTCACACTTCAGAATATTTTACTAAAAACATTCCAGTCTTGGCCGGGTGCGGTGGCTCCTGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAACACAGCGAGACCCTCTCATTAAAAACAACAAAACAAAACAATTCCAGTCTTGGAGTAGTCTAACAGAAGAAAATGTAAAATTATTTGAGTGTAAATAATAGATGTCAGTATTTATCATGATGGGTCACATATAGACATATGTACATATTATATATATATATATATATATATATATATATATATATATATATATATAAGCTCTTTTTTCTGAGGCTATTTTATAGTTATTTTTAAACATAAAGATACAGAAGTCTTCTTGACTTCTGATTTTCAAAACCATTCCTCAGTATCTTCAGGCATTTGACCTCCTGAATGTGCTTGGCCCTGGGCTTCAGTTATCCTTTGATGTCCTGCAGGGGTGGCTAATGTGCTGGGGTTTTTCTGTGTTAATAGTCACAGTATTGTTTTATTGGTGAATAGCTGAAAAACAGAGGGATTAAGTCATATTCCGGGAAAGAGAATTATAGTTTTTATGCCTCCTGTTGAATAAATGGTGTCCTGATTGCCTGGGTCTTAAGTGTGTAAATGTAGCTGGACAGTGTTTTCCCCTAGATGGCCTGGTCAGCTTGCAGTATTGATGCAACACCACATCAGCGTCTTTCATAGAGTTTATTTGAAAAGATGCTGAATTTATTCCCAAGTATAATTTTAAAAAGCTGTTTAGGACCCAAACATATTTAAACATCTCTTACACATACAGAATTTCAGTTTACAAATATTCCAGAAGGCATTTTCTTAAGCAGTGAACCATGCAGAATACTGTTGCTAAACATCGTTTCTGCCTTCCTCGTGTTCTCTTGGTAGTTTTTACTGTTTGGCTTGATCCTGCTGAGGAATGTGCTTACCACTGGAAGCCAGATGCAGATTCAGCAAGTGTTTCTTGCCTCTTACAAGGCACCGCGTGTAACGTCCTGACCAGCTGTTGGTCATTTGTGGCAGAGGGGTGTGGCTGCTTTTCGCCTGCATCTCGCGTGCTTTAGGCAGATCAGTCTGGAGTGCAGGGGAGGATGAAGACAGGTGGACTTGGGCTCATCTTTCATCAGTTAAGTAGCCAATTATCTAACTTGTATTTCTGGAAACTGAAAAGGAAAGTTTCTAGAAACCGTAAGAACAATTTAAGTTGGGATTTAGAATAGCTGACACATTTTTAGATGGGACTGAAATGAGTAAGAAAGGTTCTCCAAGATGTATGATTTTAAGTCCTTACTCCATAAATCTTCATTAAACACATCTCAGTTTTGGCCTGACTCACTGGGGTGTCAAGCAGCTACTCACCCTGCCTCAACTACGTAAGCTGCACCTTGGCAGGAAAGGGCTCACAGGTTACAGATAGAGCTTGATGAGCTCATCGCTGACTGCTGAGGGTGTCAGCACGCCCAGGTCTGTAAACAGCAGAGTGATTAAGGAAGGGGCAGTGTAGTCGACCCACGGATGCTCCTCTTTGAGGTCTTGTCCAGTCTGCGCGACCTTGAGAGTGTCTGCCTTATACTGAGGAGAGAAGTACACATTAGTCGGCACTGAATATTTAGTGCTCTGACCTGGTAGGGCCTTGGTGTGAGTGATCAGTGTGCTACTTCCTGAGACTGCTCTCTGAAAATGGGAGAAACTAAGCTATGCAGGACACTAGAGACGAGGGCAGAGTTGTGGCCATGAGCCAGATCATGGCAGTGTGCTGGCTGAGAGCTGTAGTGTAACAAACTTAAATCCCATGTCCCCTCATTCTCATGCCGGATTAACTTCTCCAGACCTCTCAAGGGAAGATCGAGAGTCACAATAGAGAGCTTGCAGCGTGCCAGGGACTGTGCTAAGATTATCTTAGAATCCTCATGACCCTGTCAGATACTGCTATGCCATTTTACAGACAAGAAAACCGGTTCAGAGGTTGAAATGAAAGGACTTGCCTCAACTCGCACAGTTTGTAAGTTGTGGTGATGGGAGCTGAGCTCAGTTAAGCCCAAAGCTGGGACTTACCCACCAGCTTCGGGCTTCCTCTCCACCCATCTATGGTGCTACTTAAAGAGACTGAAAGACTGAAGTTCTAGGGACAAATGTGTGAGTCCAATCACCAATTTATCTTTGTATTCCAAGTGTTGGGGAAAGTAGCAATAGGAAGTGAAAAAATTACTGGAACATTCTTAGGACTACAATTTCCAAAGGTTTCTGTTTAGACTTTAGTACCCCTTCAAATATGTAAAACTCTTGCCTTAAACTTATCTGGGACGTCTTGCTGGTTTAGTGGAAAGAGCCGGACAAACTTGAAACTTTCTGCAACCACATAGAAAGGTTTGTTCTGTGCTTTGGCACACACAGCCATCTGGTTGGTTCCAATCTGGGAAGGCAGAAAATGGAATGGATGAGCTCTAGAGTGCATCTGAAGTAGAAGCCACAGAAAAGCGGGCCGGGCACAGTGGTGCATGCCTGTATTCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCACCTGAACCCATGAGTTTGGGACCAGCCTAGGCAACACGGTGAGACCTCGTCTCAATTACAATAAAGGAACAATTAAAAAACAGCAATAGAAAGTTATGTATATAATATAGATATACATATATCTAATACATATATTAGATATATCTAATTCTGACTTTGGAATCAAAAAAATAAATGTTTCTCAAAGGATATAGAAACAGCCACTAGAGGCTGGATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCTGGCCAATATAGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGGATGGGGGGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAAGCAGGAGACTCGCTTGAACCCGGGCACTGGAGGTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGACAGCAAGAGTGAAACTCCATCTCAAAAAATAAAAAAATTTAAAAAAACAAGTGTTGGCAAGGATGTAGAGAAATTGGAACCTTTGTGCTTTGCTAGTGGGAATGTAAAGTAGTGCAGCTGCTGTGGAAAATCATTAGTTTCTGAAAGTTAAATATATAGTTACCATGTGACTCAACACTCTGCCTGCAGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCGTCAGCCTGCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGATATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACTACGCCCGGCCTTATGTTACATATATTTTAACTAAAAAAAGCTTTCATGAAGCTTTTCTAAATTAAATAATGGAGAGAGAGATTGTAATAAATTGAGGTCAAATGTGCTCAATTAAAATGAAAACA
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GGAATTGTGTGGGGCTGTCAGATTTCTGTTACGTTGGCGACCAGGGTGGGGAATTTGCTCTATTTGCAGAAGCCAATCTGAGAGCTTATAGTTCTTGAGTTAAAACTGCTGGTTTCACTACAACACTATTGCTGAAAAATTTAGTAGTTTATTGGTTTCTTCTGCACTTAGGGTTCTGATATTGAAGATGAGGACATGGAAGAACTTCTTAATGACACAAGACTCTTGAAAAAACTTAAGAAAGGCAAAATAACTGAAGAAGAATTTGAGAAGGGCTTGTTGACAACTGGCAAAAGAACAATCAAGACAGTGGATTTAGGGATCTCAGATTTGGAAGATGACTGCTGATTCCAGTGCCACAGATGAACCCACAAGGACATAGCTGTTCCCTAACTTGGTGGATGGCTCCAGTTTGCTTTTAACGAAAATCACAACTTCAGGAGACATCTGAAAAGAATGATGTCTCTGAAAGCTGTCCTTTCAGATGAGGGAGAAATGAAGGATTTCACACTTCAGAATATTTTACTAAAAACATTCCAGTCTTGGCCGGGTGCGGTGGCTCCTGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAACACAGCGAGACCCTCTCATTAAAAACAACAAAACAAAACAATTCCAGTCTTGGAGTAGTCTAACAGAAGAAAATGTAAAATTATTTGAGTGTAAATAATAGATGTCAGTATTTATCATGATGGGTCACATATAGACATATGTACATATTATATATATATATATATATATATATATATATATATATATATATATATAAGCTCTTTTTTCTGAGGCTATTTTATAGTTATTTTTAAACATAAAGATACAGAAGTCTTCTTGACTTCTGATTTTCAAAACCATTCCTCAGTATCTTCAGGCATTTGACCTCCTGAATGTGCTTGGCCCTGGGCTTCAGTTATCCTTTGATGTCCTGCAGGGGTGGCTAATGTGCTGGGGTTTTTCTGTGTTAATAGTCACAGTATTGTTTTATTGGTGAATAGCTGAAAAACAGAGGGATTAAGTCATATTCCGGGAAAGAGAATTATAGTTTTTATGCCTCCTGTTGAATAAATGGTGTCCTGATTGCCTGGGTCTTAAGTGTGTAAATGTAGCTGGACAGTGTTTTCCCCTAGATGGCCTGGTCAGCTTGCAGTATTGATGCAACACCACATCAGCGTCTTTCATAGAGTTTATTTGAAAAGATGCTGAATTTATTCCCAAGTATAATTTTAAAAAGCTGTTTAGGACCCAAACATATTTAAACATCTCTTACACATACAGAATTTCAGTTTACAAATATTCCAGAAGGCATTTTCTTAAGCAGTGAACCATGCAGAATACTGTTGCTAAACATCGTTTCTGCCTTCCTCGTGTTCTCTTGGTAGTTTTTACTGTTTGGCTTGATCCTGCTGAGGAATGTGCTTACCACTGGAAGCCAGATGCAGATTCAGCAAGTGTTTCTTGCCTCTTACAAGGCACCGCGTGTAACGTCCTGACCAGCTGTTGGTCATTTGTGGCAGAGGGGTGTGGCTGCTTTTCGCCTGCATCTCGCGTGCTTTAGGCAGATCAGTCTGGAGTGCAGGGGAGGATGAAGACAGGTGGACTTGGGCTCATCTTTCATCAGTTAAGTAGCCAATTATCTAACTTGTATTTCTGGAAACTGAAAAGGAAAGTTTCTAGAAACCGTAAGAACAATTTAAGTTGGGATTTAGAATAGCTGACACATTTTTAGATGGGACTGAAATGAGTAAGAAAGGTTCTCCAAGATGTATGATTTTAAGTCCTTACTCCATAAATCTTCATTAAACACATCTCAGTTTTGGCCTGACTCACTGGGGTGTCAAGCAGCTACTCACCCTGCCTCAACTACGTAAGCTGCACCTTGGCAGGAAAGGGCTCACAGGTTACAGATAGAGCTTGATGAGCTCATCGCTGACTGCTGAGGGTGTCAGCACGCCCAGGTCTGTAAACAGCAGAGTGATTAAGGAACGGGCAGTGTAGTCGACCCACGGATGCTCCTCTTTGAGGTCTTGTCCAGTCTGCGCGACCTTGAGAGTGTCTGCCTTATACTGAGGAGAGAAGTACACATTAGTCGGCACTGAATATTTAGTGCTCTGACCTGGTAGGGCCTTGGTGTGAGTGATCAGTGTGCTACTTCCTGAGACTGCTCTCTGAAAATGGGAGAAACTAAGCTATGCAGGACACTAGAGACGAGGGCAGAGTTGTGGCCATGAGCCAGATCATGGCAGTGTGCTGGCTGAGAGCTGTAGTGTAACAAACTTAAATCCCATGTCCCCTCATTCTCATGCCGGATTAACTTCTCCAGACCTCTCAAGGGAAGATCGAGAGTCACAATAGAGAGCTTGCAGCGTGCCAGGGACTGTGCTAAGATTATCTTAGAATCCTCATGACCCTGTCAGATACTGCTATGCCATTTTACAGACAAGAAAACCGGTTCAGAGGTTGAAATGAAAGGACTTGCCTCAACTCGCACAGTTTGTAAGTTGTGGTGATGGGAGCTGAGCTCAGTTAAGCCCAAAGCTGGGACTTACCCACCAGCTTCGGGCTTCCTCTCCACCCATCTATGGTGCTACTTAAAGAGACTGAAAGACTGAAGTTCTAGGGACAAATGTGTGAGTCCAATCACCAATTTATCTTTGTATTCCAAGTGTTGGGGAAAGTAGCAATAGGAAGTGAAAAAATTACTGGAACATTCTTAGGACTACAATTTCCAAAGGTTTCTGTTTAGACTTTAGTACCCCTTCAAATATGTAAAACTCTTGCCTTAAACTTATCTGGGACGTCTTGCTGGTTTAGTGGAAAGAGCCGGACAAACTTGAAACTTTCTGCAACCACATAGAAAGGTTTGTTCTGTGCTTTGGCACACACAGCCATCTGGTTGGTTCCAATCTGGGAAGGCAGAAAATGGAATGGATGAGCTCTAGAGTGCATCTGAAGTAGAAGCCACAGAAAAGCGGGCCGGGCACAGTGGTGCATGCCTGTATTCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCACCTGAACCCATGAGTTTGGGACCAGCCTAGGCAACACGGTGAGACCTCGTCTCAATTACAATAAAGGAACAATTAAAAAACAGCAATAGAAAGTTATGTATATAATATAGATATACATATATCTAATACATATATTAGATATATCTAATTCTGACTTTGGAATCAAAAAAATAAATGTTTCTCAAAGGATATAGAAACAGCCACTAGAGGCTGGATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCTGGCCAATATAGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGGATGGGGGGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAAGCAGGAGACTCGCTTGAACCCGGGCACTGGAGGTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGACAGCAAGAGTGAAACTCCATCTCAAAAAATAAAAAAATTTAAAAAAACAAGTGTTGGCAAGGATGTAGAGAAATTGGAACCTTTGTGCTTTGCTAGTGGGAATGTAAAGTAGTGCAGCTGCTGTGGAAAATCATTAGTTTCTGAAAGTTAAATATATAGTTACCATGTGACTCAACACTCTGCCTGCAGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCGTCAGCCTGCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGATATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACTACGCCCGGCCTTATGTTACATATATTTTAACTAAAAAAAGCTTTCATGAAGCTTTTCTAAATTAAATAATGGAGAGAGAGATTGTAATAAATTGAGGTCAAATGTGCTCAATTAAAATGAAAACA
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Task1_train_18893
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A variant was discovered on Chromosome 12, affecting EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Vanishing white matter disease
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ATAAGCTCTTTTTTCTGAGGCTATTTTATAGTTATTTTTAAACATAAAGATACAGAAGTCTTCTTGACTTCTGATTTTCAAAACCATTCCTCAGTATCTTCAGGCATTTGACCTCCTGAATGTGCTTGGCCCTGGGCTTCAGTTATCCTTTGATGTCCTGCAGGGGTGGCTAATGTGCTGGGGTTTTTCTGTGTTAATAGTCACAGTATTGTTTTATTGGTGAATAGCTGAAAAACAGAGGGATTAAGTCATATTCCGGGAAAGAGAATTATAGTTTTTATGCCTCCTGTTGAATAAATGGTGTCCTGATTGCCTGGGTCTTAAGTGTGTAAATGTAGCTGGACAGTGTTTTCCCCTAGATGGCCTGGTCAGCTTGCAGTATTGATGCAACACCACATCAGCGTCTTTCATAGAGTTTATTTGAAAAGATGCTGAATTTATTCCCAAGTATAATTTTAAAAAGCTGTTTAGGACCCAAACATATTTAAACATCTCTTACACATACAGAATTTCAGTTTACAAATATTCCAGAAGGCATTTTCTTAAGCAGTGAACCATGCAGAATACTGTTGCTAAACATCGTTTCTGCCTTCCTCGTGTTCTCTTGGTAGTTTTTACTGTTTGGCTTGATCCTGCTGAGGAATGTGCTTACCACTGGAAGCCAGATGCAGATTCAGCAAGTGTTTCTTGCCTCTTACAAGGCACCGCGTGTAACGTCCTGACCAGCTGTTGGTCATTTGTGGCAGAGGGGTGTGGCTGCTTTTCGCCTGCATCTCGCGTGCTTTAGGCAGATCAGTCTGGAGTGCAGGGGAGGATGAAGACAGGTGGACTTGGGCTCATCTTTCATCAGTTAAGTAGCCAATTATCTAACTTGTATTTCTGGAAACTGAAAAGGAAAGTTTCTAGAAACCGTAAGAACAATTTAAGTTGGGATTTAGAATAGCTGACACATTTTTAGATGGGACTGAAATGAGTAAGAAAGGTTCTCCAAGATGTATGATTTTAAGTCCTTACTCCATAAATCTTCATTAAACACATCTCAGTTTTGGCCTGACTCACTGGGGTGTCAAGCAGCTACTCACCCTGCCTCAACTACGTAAGCTGCACCTTGGCAGGAAAGGGCTCACAGGTTACAGATAGAGCTTGATGAGCTCATCGCTGACTGCTGAGGGTGTCAGCACGCCCAGGTCTGTAAACAGCAGAGTGATTAAGGAAGGGGCAGTGTAGTCGACCCACGGATGCTCCTCTTTGAGGTCTTGTCCAGTCTGCGCGACCTTGAGAGTGTCTGCCTTATACTGAGGAGAGAAGTACACATTAGTCGGCACTGAATATTTAGTGCTCTGACCTGGTAGGGCCTTGGTGTGAGTGATCAGTGTGCTACTTCCTGAGACTGCTCTCTGAAAATGGGAGAAACTAAGCTATGCAGGACACTAGAGACGAGGGCAGAGTTGTGGCCATGAGCCAGATCATGGCAGTGTGCTGGCTGAGAGCTGTAGTGTAACAAACTTAAATCCCATGTCCCCTCATTCTCATGCCGGATTAACTTCTCCAGACCTCTCAAGGGAAGATCGAGAGTCACAATAGAGAGCTTGCAGCGTGCCAGGGACTGTGCTAAGATTATCTTAGAATCCTCATGACCCTGTCAGATACTGCTATGCCATTTTACAGACAAGAAAACCGGTTCAGAGGTTGAAATGAAAGGACTTGCCTCAACTCGCACAGTTTGTAAGTTGTGGTGATGGGAGCTGAGCTCAGTTAAGCCCAAAGCTGGGACTTACCCACCAGCTTCGGGCTTCCTCTCCACCCATCTATGGTGCTACTTAAAGAGACTGAAAGACTGAAGTTCTAGGGACAAATGTGTGAGTCCAATCACCAATTTATCTTTGTATTCCAAGTGTTGGGGAAAGTAGCAATAGGAAGTGAAAAAATTACTGGAACATTCTTAGGACTACAATTTCCAAAGGTTTCTGTTTAGACTTTAGTACCCCTTCAAATATGTAAAACTCTTGCCTTAAACTTATCTGGGACGTCTTGCTGGTTTAGTGGAAAGAGCCGGACAAACTTGAAACTTTCTGCAACCACATAGAAAGGTTTGTTCTGTGCTTTGGCACACACAGCCATCTGGTTGGTTCCAATCTGGGAAGGCAGAAAATGGAATGGATGAGCTCTAGAGTGCATCTGAAGTAGAAGCCACAGAAAAGCGGGCCGGGCACAGTGGTGCATGCCTGTATTCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCACCTGAACCCATGAGTTTGGGACCAGCCTAGGCAACACGGTGAGACCTCGTCTCAATTACAATAAAGGAACAATTAAAAAACAGCAATAGAAAGTTATGTATATAATATAGATATACATATATCTAATACATATATTAGATATATCTAATTCTGACTTTGGAATCAAAAAAATAAATGTTTCTCAAAGGATATAGAAACAGCCACTAGAGGCTGGATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCTGGCCAATATAGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGGATGGGGGGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAAGCAGGAGACTCGCTTGAACCCGGGCACTGGAGGTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGACAGCAAGAGTGAAACTCCATCTCAAAAAATAAAAAAATTTAAAAAAACAAGTGTTGGCAAGGATGTAGAGAAATTGGAACCTTTGTGCTTTGCTAGTGGGAATGTAAAGTAGTGCAGCTGCTGTGGAAAATCATTAGTTTCTGAAAGTTAAATATATAGTTACCATGTGACTCAACACTCTGCCTGCAGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCGTCAGCCTGCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGATATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACTACGCCCGGCCTTATGTTACATATATTTTAACTAAAAAAAGCTTTCATGAAGCTTTTCTAAATTAAATAATGGAGAGAGAGATTGTAATAAATTGAGGTCAAATGTGCTCAATTAAAATGAAAACAAATGACAGGCCGGCCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAAGTGGAAAGATTGCTTCAGGCTAGGAGTTCAAGACTGCAGTAAGCTATGATCACTGTACTACACTACAGCCTGGGCAACAGAGTGAATGTGTCTCTATTTTAAAATATATATAATATTTATATATAAATACACGTATTTTATACATACATACTTTATATGTAAATATATAAATAATATTTTAAAAATATTTGTGTATATATATTATGTGTGTGTATATATATGCATAAATAAAACATACATATACACATAAATAAAGCAAAAACCAGACAAACCCCAATTCCAATTCAAGCCAATTTTGTATAAATATAAATTACACTTTTTTTTTTTTTTTTTTTACTGAGACAGGGTCTCACCATCGCCCAGGCTGGAATGCAGTAGTGTGATCATAACTTACTGCAACCTCAAATTCCTGGGCTCACGTGATACTCCTGCCTCAGCTTCCTGGGCAGCTGGAACTACAGGCAAGCACCACCACGCCCAGCTAATTTTTCTAATTTTTTGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCAAGGCCTCAAGTGATCCTCCCACCCTGGCCTCTCAAATTGCTAGGATTACAGGTATAAGGCATCACACCTGACCAAATTACATTGTCTTCATTTATGTAGATCAATCTAAAAAAGATTTGACTGAAACTGGACTGCCCATTGCTATGACTTACGGGAAATGGGCAACAACTCAATACCATGATGAAGTCCTGAAGTGAAGCAGGATTAGAAGGAACCATAATCAACACTGCTGTGG
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ATAAGCTCTTTTTTCTGAGGCTATTTTATAGTTATTTTTAAACATAAAGATACAGAAGTCTTCTTGACTTCTGATTTTCAAAACCATTCCTCAGTATCTTCAGGCATTTGACCTCCTGAATGTGCTTGGCCCTGGGCTTCAGTTATCCTTTGATGTCCTGCAGGGGTGGCTAATGTGCTGGGGTTTTTCTGTGTTAATAGTCACAGTATTGTTTTATTGGTGAATAGCTGAAAAACAGAGGGATTAAGTCATATTCCGGGAAAGAGAATTATAGTTTTTATGCCTCCTGTTGAATAAATGGTGTCCTGATTGCCTGGGTCTTAAGTGTGTAAATGTAGCTGGACAGTGTTTTCCCCTAGATGGCCTGGTCAGCTTGCAGTATTGATGCAACACCACATCAGCGTCTTTCATAGAGTTTATTTGAAAAGATGCTGAATTTATTCCCAAGTATAATTTTAAAAAGCTGTTTAGGACCCAAACATATTTAAACATCTCTTACACATACAGAATTTCAGTTTACAAATATTCCAGAAGGCATTTTCTTAAGCAGTGAACCATGCAGAATACTGTTGCTAAACATCGTTTCTGCCTTCCTCGTGTTCTCTTGGTAGTTTTTACTGTTTGGCTTGATCCTGCTGAGGAATGTGCTTACCACTGGAAGCCAGATGCAGATTCAGCAAGTGTTTCTTGCCTCTTACAAGGCACCGCGTGTAACGTCCTGACCAGCTGTTGGTCATTTGTGGCAGAGGGGTGTGGCTGCTTTTCGCCTGCATCTCGCGTGCTTTAGGCAGATCAGTCTGGAGTGCAGGGGAGGATGAAGACAGGTGGACTTGGGCTCATCTTTCATCAGTTAAGTAGCCAATTATCTAACTTGTATTTCTGGAAACTGAAAAGGAAAGTTTCTAGAAACCGTAAGAACAATTTAAGTTGGGATTTAGAATAGCTGACACATTTTTAGATGGGACTGAAATGAGTAAGAAAGGTTCTCCAAGATGTATGATTTTAAGTCCTTACTCCATAAATCTTCATTAAACACATCTCAGTTTTGGCCTGACTCACTGGGGTGTCAAGCAGCTACTCACCCTGCCTCAACTACGTAAGCTGCACCTTGGCAGGAAAGGGCTCACAGGTTACAGATAGAGCTTGATGAGCTCATCGCTGACTGCTGAGGGTGTCAGCACGCCCAGGTCTGTAAACAGCAGAGTGATTAAGGAAGGGGCAGTGTAGTCGACCCACGGATGCTCCTCTTTGAGGTCTTGTCCAGTCTGCGCGACCTTGAGAGTGTCTGCCTTATACTGAGGAGAGAAGTACACATTAGTCGGCACTGAATATTTAGTGCTCTGACCTGGTAGGGCCTTGGTGTGAGTGATCAGTGTGCTACTTCCTGAGACTGCTCTCTGAAAATGGGAGAAACTAAGCTATGCAGGACACTAGAGACGAGGGCAGAGTTGTGGCCATGAGCCAGATCATGGCAGTGTGCTGGCTGAGAGCTGTAGTGTAACAAACTTAAATCCCATGTCCCCTCATTCTCATGCCGGATTAACTTCTCCAGACCTCTCAAGGGAAGATCGAGAGTCACAATAGAGAGCTTGCAGCGTGCCAGGGACTGTGCTAAGATTATCTTAGAATCCTCATGACCCTGTCAGATACTGCTATGCCATTTTACAGACAAGAAAACCGGTTCAGAGGTTGAAATGAAAGGACTTGCCTCAACTCGCACAGTTTGTAAGTTGTGGTGATGGGAGCTGAGCTCAGTTAAGCCCAAAGCTGGGACTTACCCACCAGCTTCGGGCTTCCTCTCCACCCATCTATGGTGCTACTTAAAGAGACTGAAAGACTGAAGTTCTAGGGACAAATGTGTGAGTCCAATCACCAATTTATCTTTGTATTCCAAGTGTTGGGGAAAGTAGCAATAGGAAGTGAAAAAATTACTGGAACATTCTTAGGACTACAATTTCCAAAGGTTTCTGTTTAGACTTTAGTACCCCTTCAAATATGTAAAACTCTTGCCTTAAACTTATCTGGGACGTCTTGCTGGTTTAGTGGAACGAGCCGGACAAACTTGAAACTTTCTGCAACCACATAGAAAGGTTTGTTCTGTGCTTTGGCACACACAGCCATCTGGTTGGTTCCAATCTGGGAAGGCAGAAAATGGAATGGATGAGCTCTAGAGTGCATCTGAAGTAGAAGCCACAGAAAAGCGGGCCGGGCACAGTGGTGCATGCCTGTATTCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCACCTGAACCCATGAGTTTGGGACCAGCCTAGGCAACACGGTGAGACCTCGTCTCAATTACAATAAAGGAACAATTAAAAAACAGCAATAGAAAGTTATGTATATAATATAGATATACATATATCTAATACATATATTAGATATATCTAATTCTGACTTTGGAATCAAAAAAATAAATGTTTCTCAAAGGATATAGAAACAGCCACTAGAGGCTGGATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCTGGCCAATATAGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGGATGGGGGGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAAGCAGGAGACTCGCTTGAACCCGGGCACTGGAGGTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGACAGCAAGAGTGAAACTCCATCTCAAAAAATAAAAAAATTTAAAAAAACAAGTGTTGGCAAGGATGTAGAGAAATTGGAACCTTTGTGCTTTGCTAGTGGGAATGTAAAGTAGTGCAGCTGCTGTGGAAAATCATTAGTTTCTGAAAGTTAAATATATAGTTACCATGTGACTCAACACTCTGCCTGCAGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCGTCAGCCTGCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGATATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACTACGCCCGGCCTTATGTTACATATATTTTAACTAAAAAAAGCTTTCATGAAGCTTTTCTAAATTAAATAATGGAGAGAGAGATTGTAATAAATTGAGGTCAAATGTGCTCAATTAAAATGAAAACAAATGACAGGCCGGCCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAAGTGGAAAGATTGCTTCAGGCTAGGAGTTCAAGACTGCAGTAAGCTATGATCACTGTACTACACTACAGCCTGGGCAACAGAGTGAATGTGTCTCTATTTTAAAATATATATAATATTTATATATAAATACACGTATTTTATACATACATACTTTATATGTAAATATATAAATAATATTTTAAAAATATTTGTGTATATATATTATGTGTGTGTATATATATGCATAAATAAAACATACATATACACATAAATAAAGCAAAAACCAGACAAACCCCAATTCCAATTCAAGCCAATTTTGTATAAATATAAATTACACTTTTTTTTTTTTTTTTTTTACTGAGACAGGGTCTCACCATCGCCCAGGCTGGAATGCAGTAGTGTGATCATAACTTACTGCAACCTCAAATTCCTGGGCTCACGTGATACTCCTGCCTCAGCTTCCTGGGCAGCTGGAACTACAGGCAAGCACCACCACGCCCAGCTAATTTTTCTAATTTTTTGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCAAGGCCTCAAGTGATCCTCCCACCCTGGCCTCTCAAATTGCTAGGATTACAGGTATAAGGCATCACACCTGACCAAATTACATTGTCTTCATTTATGTAGATCAATCTAAAAAAGATTTGACTGAAACTGGACTGCCCATTGCTATGACTTACGGGAAATGGGCAACAACTCAATACCATGATGAAGTCCTGAAGTGAAGCAGGATTAGAAGGAACCATAATCAACACTGCTGTGG
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Task1_train_18894
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This variant affects the gene EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Vanishing white matter disease
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CCTGGGCAGCTGGAACTACAGGCAAGCACCACCACGCCCAGCTAATTTTTCTAATTTTTTGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCAAGGCCTCAAGTGATCCTCCCACCCTGGCCTCTCAAATTGCTAGGATTACAGGTATAAGGCATCACACCTGACCAAATTACATTGTCTTCATTTATGTAGATCAATCTAAAAAAGATTTGACTGAAACTGGACTGCCCATTGCTATGACTTACGGGAAATGGGCAACAACTCAATACCATGATGAAGTCCTGAAGTGAAGCAGGATTAGAAGGAACCATAATCAACACTGCTGTGGTGTCCTAGGTCAGCAAGACACCTCCAAGTCTTGAGCAGGGAACTGGGGAGAACTGATGCTCTTACCTTGTTAATAATTCCTCCGTTTTCAACAACTCCTTCAGCACCAACTATGACAAGATCTGCTTTCTCCATGATGTAGCTAAGGGGAAAAAAAGCTTTTCATGCTTTATTTTCTTGGCTCTAACGAGTAGCATCATCATCTGCAAAGATCAATATTCCATTTCTATCAAGGTAAGTTCCTCCCATAACTACCTGTTTTTTTTAAAGCGCACTTAACACGCGATAGACCCCTGGCATTGTTACCAGGGGTGTTTTCTGGTCATGACCCTACAATGAGACATACACTTCACACTGCCGCCCGGCGCATGCACACGTACATATGTGTGTAAGTGAAGCAAGAATGTCCTGACACAGCAGTCTTCCTTCCAAGTGTGGTATCCTCTACTTTCTTTTCTACTTCAGCACAAACCAAACAAAATTTTAAAATCTGATGAGATCTGAAGTTGGACAAAAGTGTTATGCAGTTTTAAAAATCTTTCTTTTTTTTTTTGAGACCAGATCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCCCAAACCTCTACCTCTTAGGCTCAAGCGATCCTCCCATTTCAGCCTCCCAGGTAGCTGGGACCACAGCATATGCCACCATGCCCTAGAGATGGGGTTTCGCCATATTGCCCAGGCTGGTCTCCAACTCCTGAACTCTAGCGATCCACCTGCCTCAGGTATGAGCCACTGTGCCCAACCTTAAGAATCTTTCTGGTAGGATGAAGGCCAATTTAGTCTTTAAAATGAGCAATTAGTAGAATTCCTCAAAATCCTTACTTTTGAACACATTCCTAATTTCCTTAATCATCTATCTTGTTTTCATTCCAAGAGATCACTACTCTTGTTTTTTCTTGGGAAATACACTGACAATCCCAGGAACATGTGACTTGGCTTTGCGACACAAGCTGCATCTTCTAGGTGAGACAAAGCATCCCAGTATGCCACTGAGGACAGCCAGGTCTTCACAGAAATACAGAGCCCTGATTACCCTCTGCTGATCCCAACTGACCTTTGTACTTTGCTCTTAAAATGCATTTGCACTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGTTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAGAATTAACGTGGCATGGTGGCATGCGCCGGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGATTGCAGTGAACCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAGGGCAAGACTCCATCTCAAAAAAACAAAAAACAAACAAACAAAAACAACAACAACAACAAACTCAACACTTACAGCCATAAAGCTATAGACACAACTCCCACTCTCCCCAACATCCTACAGCTCTGTCTTCTTTGTATGCTATCACAACCTCATAACAAGCTTGCTGGTTTAGGGCAGCTATTAATTAAGAAGTAGGACGCTACCTGGTGTGGCTTTATGAACGGGACTCAAACTTTCAATCTGAAAACTTGCTGTAAGCCAGCATGGGGTGGGGGAGGTGATTATGGCTGGGGAAGATGGGCACTCACCCGACAGCAGCATCTAGCACCACAGTGACAGGGACGTTGAGGTGGCAGAGGGCTTTGGCCATTTTCTTACTGAAGATGACATTTTGAGAACGTTAGAGAAAGTACAAGACAGTACCACAGTGATGTATGTCACCTAATGTGGACAGTGGATGTTTGCTTGAAACTCACATTAATACTAATGGGTTAAGGGGCAGATCCCAATACTTTGGACTAAGGAAACAAGAATTTGAGTTCTTTAGAAAGAAGTATTTTTGGAAAACTATACTCTTAGACTCTGGGTAAGAGATGTAAATTCAGGAAAAAAGGAGGAAGTTTTGCTTTGATTATCGTCTAGAGAGAGGGAGATATAAGTTACCTATTCCTTGATAAAAATCTTCATCAATACAATCTCTGCTCTTCCACGGAGTTAACTACTTAAGTGAAACCCCTAGATCATATACTGCGGCCTGCTGCAAATTCAGTGATTTTTCTTCCAAAGGCAGGAAAAGGTACAATGAAAGGCAGTGCTGACTGCTGGCAAGCTGGGGGCACATTCTGGTTCTGATCCTGTTGGACTGTAATCCGCAGTTTGCTCTGTAAAATTATGGCTGGGCACATAACTGAACAGAAAGGTACTTGCCCTGACAAATCAGGCTGTGACTCTGTGACGTATACACTAAATCGCTTCTTGGCCGCCACGGCTGCTTCCAGGACTCTCAGGACCACTCTGGAGTAGGCGTGAGTCAATATTGTCTGTGGACCGAGAAAGCTTTGTCAAAGGGGCAGGCTCCTTGCTGCTCACTCACACCCTCTGCACTGCGGCACGTGTTCCCGACACCCTAAGCATCTCTGTACACTTTCTCACAAATCAACCACAACCAGAAAGGAGACCTGATGGTACAGTTTCCATCCCATGTGCAAGCTAAAAAAGTTTCTGCCAGGTCTCACATCCTGTAGCAGGTGCAGAAATGGAACTCCCACACAGTGTTACCCAAAGGATACAAAAGCCTGGATAGCTGAAGGCTCCATGAGGTTCCCTTGGGTTGGTTTTCCTATTTCTAAGACATGGTTTGCACACGCAGGCCTACAGGAACCAAGTAGGTAGCAGAAGTCACTGCAGCAGGTTGGGTGGGGCCAGCAGCAAAGCGAAAGGCTACAGAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGAGAGGACTGCCTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAACTTGGCAAGACCTCATCTCTACAAAAAATAACAACAAAAAAAATTAGCTGGATGCAGTGGCATGTGCCTATAGTCCCAGCTACTTGGGAGGCCGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATAATCATGCCAGTGCACTCTAGTCTGGGCAAGAGAGTGAGACTCTGTCTCAAAAAGAAAAGGCTAAGGAGGGCCAGGACTCCTCAGCCCCAGCTGGCGTCATGTGGCCCCAAGATTGCCAGACCAGGTGATGTTTCAAAAATCCAATTTTGAAATGATGGCTAACTAATTTTTTTGAATTTATAAACACTGTTTGGGGTAATCACAACCTATCTGTGGCGTGGATGCAATGTGTAGACACTTAGACATAATCTGTTTTCTTTTCTTTCTTGAGCCAAGGTCTTGCTCTGATGCCTAGGCTGGAGTGCAGTGCAGTGTTCATGGCTCACTGTAGCCTCGACATCCTGGGCTCAAACGATCCTCCCACCTCAGCCACCCCAGTAGCTGGGACTACAGATGTGCGCCACTGTGACTAGCTAATTTATTTTATTTTTTGTAGAGACAGGGCCTCTCTCCCTATGTTGCTCAGGCTAGTGTTGAATTCCTGGCCTCAAGGGAACCTCCGGCTAGGATTATACACATAAGCCACCACAGTAGGCCCATAACCTCTTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGGATCTCACTCCAATTGCCCAGGCTGAAGTGCAGTGGTATGATCTCAGCTCACTGCAGCCTCAACTTCCTGGGTTCAGGTGATTCTCCCAC
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CCTGGGCAGCTGGAACTACAGGCAAGCACCACCACGCCCAGCTAATTTTTCTAATTTTTTGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCAAGGCCTCAAGTGATCCTCCCACCCTGGCCTCTCAAATTGCTAGGATTACAGGTATAAGGCATCACACCTGACCAAATTACATTGTCTTCATTTATGTAGATCAATCTAAAAAAGATTTGACTGAAACTGGACTGCCCATTGCTATGACTTACGGGAAATGGGCAACAACTCAATACCATGATGAAGTCCTGAAGTGAAGCAGGATTAGAAGGAACCATAATCAACACTGCTGTGGTGTCCTAGGTCAGCAAGACACCTCCAAGTCTTGAGCAGGGAACTGGGGAGAACTGATGCTCTTACCTTGTTAATAATTCCTCCGTTTTCAACAACTCCTTCAGCACCAACTATGACAAGATCTGCTTTCTCCATGATGTAGCTAAGGGGAAAAAAAGCTTTTCATGCTTTATTTTCTTGGCTCTAACGAGTAGCATCATCATCTGCAAAGATCAATATTCCATTTCTATCAAGGTAAGTTCCTCCCATAACTACCTGTTTTTTTTAAAGCGCACTTAACACGCGATAGACCCCTGGCATTGTTACCAGGGGTGTTTTCTGGTCATGACCCTACAATGAGACATACACTTCACACTGCCGCCCGGCGCATGCACACGTACATATGTGTGTAAGTGAAGCAAGAATGTCCTGACACAGCAGTCTTCCTTCCAAGTGTGGTATCCTCTACTTTCTTTTCTACTTCAGCACAAACCAAACAAAATTTTAAAATCTGATGAGATCTGAAGTTGGACAAAAGTGTTATGCAGTTTTAAAAATCTTTCTTTTTTTTTTTGAGACCAGATCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCCCAAACCTCTACCTCTTAGGCTCAAGCGATCCTCCCATTTCAGCCTCCCAGGTAGCTGGGACCACAGCATATGCCACCATGCCCTAGAGATGGGGTTTCGCCATATTGCCCAGGCTGGTCTCCAACTCCTGAACTCTAGCGATCCACCTGCCTCAGGTATGAGCCACTGTGCCCAACCTTAAGAATCTTTCTGGTAGGATGAAGGCCAATTTAGTCTTTAAAATGAGCAATTAGTAGAATTCCTCAAAATCCTTACTTTTGAACACATTCCTAATTTCCTTAATCATCTATCTTGTTTTCATTCCAAGAGATCACTACTCTTGTTTTTTCTTGGGAAATACACTGACAATCCCAGGAACATGTGACTTGGCTTTGCGACACAAGCTGCATCTTCTAGGTGAGACAAAGCATCCCAGTATGCCACTGAGGACAGCCAGGTCTTCACAGAAATACAGAGCCCTGATTACCCTCTGCTGATCCCAACTGACCTTTGTACTTTGCTCTTAAAATGCATTTGCACTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGTTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAGAATTAACGTGGCATGGTGGCATGCGCCGGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGATTGCAGTGAACCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAGGGCAAGACTCCATCTCAAAAAAACAAAAAACAAACAAACAAAAACAACAACAACAACAAACTCAACACTTACAGCCATAAAGCTATAGACACAACTCCCACTCTCCCCAACATCCTACAGCTCTGTCTTCTTTGTATGCTATCACAACCTCATAACAAGCTTGCTGGTTTAGGGCAGCTATTAATTAAGAAGTAGGACGCTACCTGGTGTGGCTTTATGAACGGGACTCAAACTTTCAATCTGAAAACTTGCTGTAAGCCAGCATGGGGTGGGGGAGGTGATTATGGCTGGGGAAGATGGGCACTCACCCGAAAGCAGCATCTAGCACCACAGTGACAGGGACGTTGAGGTGGCAGAGGGCTTTGGCCATTTTCTTACTGAAGATGACATTTTGAGAACGTTAGAGAAAGTACAAGACAGTACCACAGTGATGTATGTCACCTAATGTGGACAGTGGATGTTTGCTTGAAACTCACATTAATACTAATGGGTTAAGGGGCAGATCCCAATACTTTGGACTAAGGAAACAAGAATTTGAGTTCTTTAGAAAGAAGTATTTTTGGAAAACTATACTCTTAGACTCTGGGTAAGAGATGTAAATTCAGGAAAAAAGGAGGAAGTTTTGCTTTGATTATCGTCTAGAGAGAGGGAGATATAAGTTACCTATTCCTTGATAAAAATCTTCATCAATACAATCTCTGCTCTTCCACGGAGTTAACTACTTAAGTGAAACCCCTAGATCATATACTGCGGCCTGCTGCAAATTCAGTGATTTTTCTTCCAAAGGCAGGAAAAGGTACAATGAAAGGCAGTGCTGACTGCTGGCAAGCTGGGGGCACATTCTGGTTCTGATCCTGTTGGACTGTAATCCGCAGTTTGCTCTGTAAAATTATGGCTGGGCACATAACTGAACAGAAAGGTACTTGCCCTGACAAATCAGGCTGTGACTCTGTGACGTATACACTAAATCGCTTCTTGGCCGCCACGGCTGCTTCCAGGACTCTCAGGACCACTCTGGAGTAGGCGTGAGTCAATATTGTCTGTGGACCGAGAAAGCTTTGTCAAAGGGGCAGGCTCCTTGCTGCTCACTCACACCCTCTGCACTGCGGCACGTGTTCCCGACACCCTAAGCATCTCTGTACACTTTCTCACAAATCAACCACAACCAGAAAGGAGACCTGATGGTACAGTTTCCATCCCATGTGCAAGCTAAAAAAGTTTCTGCCAGGTCTCACATCCTGTAGCAGGTGCAGAAATGGAACTCCCACACAGTGTTACCCAAAGGATACAAAAGCCTGGATAGCTGAAGGCTCCATGAGGTTCCCTTGGGTTGGTTTTCCTATTTCTAAGACATGGTTTGCACACGCAGGCCTACAGGAACCAAGTAGGTAGCAGAAGTCACTGCAGCAGGTTGGGTGGGGCCAGCAGCAAAGCGAAAGGCTACAGAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGAGAGGACTGCCTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAACTTGGCAAGACCTCATCTCTACAAAAAATAACAACAAAAAAAATTAGCTGGATGCAGTGGCATGTGCCTATAGTCCCAGCTACTTGGGAGGCCGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATAATCATGCCAGTGCACTCTAGTCTGGGCAAGAGAGTGAGACTCTGTCTCAAAAAGAAAAGGCTAAGGAGGGCCAGGACTCCTCAGCCCCAGCTGGCGTCATGTGGCCCCAAGATTGCCAGACCAGGTGATGTTTCAAAAATCCAATTTTGAAATGATGGCTAACTAATTTTTTTGAATTTATAAACACTGTTTGGGGTAATCACAACCTATCTGTGGCGTGGATGCAATGTGTAGACACTTAGACATAATCTGTTTTCTTTTCTTTCTTGAGCCAAGGTCTTGCTCTGATGCCTAGGCTGGAGTGCAGTGCAGTGTTCATGGCTCACTGTAGCCTCGACATCCTGGGCTCAAACGATCCTCCCACCTCAGCCACCCCAGTAGCTGGGACTACAGATGTGCGCCACTGTGACTAGCTAATTTATTTTATTTTTTGTAGAGACAGGGCCTCTCTCCCTATGTTGCTCAGGCTAGTGTTGAATTCCTGGCCTCAAGGGAACCTCCGGCTAGGATTATACACATAAGCCACCACAGTAGGCCCATAACCTCTTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGGATCTCACTCCAATTGCCCAGGCTGAAGTGCAGTGGTATGATCTCAGCTCACTGCAGCCTCAACTTCCTGGGTTCAGGTGATTCTCCCAC
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Task1_train_18895
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This gene mutation involves EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Vanishing white matter disease
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CCTCCCACCTCAGCCACCCCAGTAGCTGGGACTACAGATGTGCGCCACTGTGACTAGCTAATTTATTTTATTTTTTGTAGAGACAGGGCCTCTCTCCCTATGTTGCTCAGGCTAGTGTTGAATTCCTGGCCTCAAGGGAACCTCCGGCTAGGATTATACACATAAGCCACCACAGTAGGCCCATAACCTCTTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGGATCTCACTCCAATTGCCCAGGCTGAAGTGCAGTGGTATGATCTCAGCTCACTGCAGCCTCAACTTCCTGGGTTCAGGTGATTCTCCCACCTGAGCCTCCCAAGTAGCTGGGACCACAGGAGTGTGCCACCACGCCTGGCTAACTTTTTGTATTTTTAGTAGAGATGAAGTTTTGCCATGTTGCCCGGGCTGGTCTTGAACTCCTGGACTCAAGCAATCTGCGTGTCTTGGCTTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCTCCATAACCTCTTTTCTATGGAAGAGTGCAGAAGACAGAATAAGACAAGGGGGCAGAACCAGCTCTCTAGCTCCTTTCTGGGTCTCACCTGAGAACCCGTTAGGAAGGCAGGTTCGTGGACCCTAGCCCAAACCCACTGAATCCCGATCTGCATTTAATAAGACCCCAGCTGACTCCTCTGCATGTGCAAATCTGAGCAGCTCTGCTATAAATTTTGTCTAAATCAGTCCTGAGTAGGTGACTGCAGGTAAAGTACATACATACCACACTACACTAGAGCAAACGAAACCCGCACAATACTGACGGCACAGCAGGTCTGTGGAAGGAGAAGGCCCCAGCGAGAGGAAGTCACAACCTTGCCTCCACTTGCCCAAAAAAGGCTTCGTTTGCAACTGGCTTTTCTACAAGTTTCACTCACATCTATTATGCCATTTATTTAATAACATACTTCAAAGGTTGGGAAGGGGCTAATAAAATGGAGGACAAGATTTAAGAGTCAAAATGCAAGTAAATGATTTTATGATCAGGGGAGGCCTAGGTGGCAAAAGGACGTATGCTGGTGGGAGGGGCATTATGATAGTTTCATTACACCTTTACTGGAAGATGGTTCAACTTGCACCTCCTGTCTTTCCTCACTTATAAACACTGCGTGGCTTTACATCTCTGTAATAGCATCTAAAATGAAGTTAAAAAGAAAATTTCCCTCAATTTCCCTCTATTGCTAACCTTCACTAAGAAAGTCCTCAGTGTTAACCAGTGACAAGAGCTGTTCTGTTAATTCAGATTTACTACACATACAATCATAAAAATACTTCTTTAGTAAAACACTGTATTAAATCAAGAATCAGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTGGGCTTGCTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAATAAAATAAATCAAGAATCACACGTGCTGTCCCACTGTCCCTCTCTGCCTGTTTACAATGACAACCATCTCTAATAACAAGACCTACATTCATGCAGCACTTACTAAGTGCCAGGCACAATACCAAGCCCTCACACCCCTTGCCCCTTACATGTCTTGCCTCATTTAATCCTCACAACAACCCAAGGAGGTAGGTACTATTGTCATCCTTATTTAACAGATGAGAAAGCTGCACAGACAGGTTAAGTTACTTGTTCAAGTCTCCACAGCAAGTGAGTGGCAGAGCCCGGATTTTACCCCAGGCAGTCGGACTCGAAACCGTTGCTCCTCCTTACCACCATGATGATTATCCACTCACCGCTCCATCTTTGATGAAAGTATGGCACAGATCTGCAATTTTGTTTCTTGACAGTGATATTCTCCTGAGAAAAAGTTCTCCCCGCTCAATCATGATCTTTTTACATTTGGAGTAATCCTAGGAAGAAAAGAGCAAACTGAGGGGACAGGGAAGATCCAGTTAATGCTGAGAATGTCTGTCACTAAACAGAGAAGTGGAAAGGTAACCCCAGGGAGAACAGGCACTTACGGAGTATTCCAGGGAGGCAAGACTGATGAAGCGGAGGAAGAGCTCCCCGCCAGAGGACACTGCCACAGAGGAGTCCACACCACACAGGGTTTCTATGGCACTGGTGAGATTCGCCCTCAGACCCTGGATTGTCTCCCCTGGAATGATCCAACAAGGAATGTGATGTTCACATTAGGGCCACAGCCCCGACCTGTATCTTCAATTCATTCATTCATTCAGTGAATATTTACTAGGTACATACTATATACCAGGCACTATTCTAGATGCTAGGGATACATCAGTGAACAAGACAGGTAGGGTTCTGCTGTGATGGAGTTTTGATTGTAATAGAGGAAGCGGATAGTAAACAAGCACACATAGAAATAAAGCTGGGTGGCTGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCATGGAAAGACATTAAGTAGCAGCGGCAGATGAGGTCTGCAAGGTGGTATGGGTGAGGCTAAGGTTGTTTGGATGTTATTTTAAGAACAATGGGAAGACACTGGAGGTTGCCTTAAAGACATGTGTCTCTAGGCAAGCCCTTCAGATTAAAGGCTGCATTATTATTTTGCTTATACAAGATTTCATGCTATACCCAGATGCTTACATTTAGGGTGCTGAATTAGGGGATCACAATAAATAATACTAATACCAGAATTTATTCTGGAATATTCCCTGTAGCATCTGTACAGAATCTGGCACAAGGTGGAGGCCTAATAAACACTTATAAAGCTGAACTGCTACTGAAATTTACGCATCATGGTTAACACAATATAACATAGTCACTCTCGATTCAAAGTCTGTTTCACTTATGAAAGGGATCCTTTTCATGACAACGTAAGAGCTCTCTCCAGATTGAAAGGTCTGAAATGAAGGCAGAAGCTGAGCTTGGAGCTGTATTACTACTTTATGCAGGCAAACATGCATCTCTCACTTTCTACATTTCTAAGAGTCATTAGAAGACTTTCCTGGCCGAACATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGGCGAGGCGGACGGATCACCTGAGGCTAGGAGTTTAAGACCACTGTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAAAAAAATTTGGCCGGGCCCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCGACATGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACAAAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACCTGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAAGCGGAGCCTGCAGTGAGCCAAGATGGCACCACTGCACTCCAGCCCGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTTTGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCTGTCTCAAAAAAAACAAACGGCCGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGCAGATTGCCTAAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGTGAAACCCTGTCTCTAAAATACAAAAAAATTAGCCGGACAAGGTGGTGCACACCTATAATCCCAGCTACTCAGGAGGCCAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAG
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CCTCCCACCTCAGCCACCCCAGTAGCTGGGACTACAGATGTGCGCCACTGTGACTAGCTAATTTATTTTATTTTTTGTAGAGACAGGGCCTCTCTCCCTATGTTGCTCAGGCTAGTGTTGAATTCCTGGCCTCAAGGGAACCTCCGGCTAGGATTATACACATAAGCCACCACAGTAGGCCCATAACCTCTTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGGATCTCACTCCAATTGCCCAGGCTGAAGTGCAGTGGTATGATCTCAGCTCACTGCAGCCTCAACTTCCTGGGTTCAGGTGATTCTCCCACCTGAGCCTCCCAAGTAGCTGGGACCACAGGAGTGTGCCACCACGCCTGGCTAACTTTTTGTATTTTTAGTAGAGATGAAGTTTTGCCATGTTGCCCGGGCTGGTCTTGAACTCCTGGACTCAAGCAATCTGCGTGTCTTGGCTTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCTCCATAACCTCTTTTCTATGGAAGAGTGCAGAAGACAGAATAAGACAAGGGGGCAGAACCAGCTCTCTAGCTCCTTTCTGGGTCTCACCTGAGAACCCGTTAGGAAGGCAGGTTCGTGGACCCTAGCCCAAACCCACTGAATCCCGATCTGCATTTAATAAGACCCCAGCTGACTCCTCTGCATGTGCAAATCTGAGCAGCTCTGCTATAAATTTTGTCTAAATCAGTCCTGAGTAGGTGACTGCAGGTAAAGTACATACATACCACACTACACTAGAGCAAACGAAACCCGCACAATACTGACGGCACAGCAGGTCTGTGGAAGGAGAAGGCCCCAGCGAGAGGAAGTCACAACCTTGCCTCCACTTGCCCAAAAAAGGCTTCGTTTGCAACTGGCTTTTCTACAAGTTTCACTCACATCTATTATGCCATTTATTTAATAACATACTTCAAAGGTTGGGAAGGGGCTAATAAAATGGAGGACAAGATTTAAGAGTCAAAATGCAAGTAAATGATTTTATGATCAGGGGAGGCCTAGGTGGCAAAAGGACGTATGCTGGTGGGAGGGGCATTATGATAGTTTCATTACACCTTTACTGGAAGATGGTTCAACTTGCACCTCCTGTCTTTCCTCACTTATAAACACTGCGTGGCTTTACATCTCTGTAATAGCATCTAAAATGAAGTTAAAAAGAAAATTTCCCTCAATTTCCCTCTATTGCTAACCTTCACTAAGAAAGTCCTCAGTGTTAACCAGTGACAAGAGCTGTTCTGTTAATTCAGATTTACTACACATACAATCATAAAAATACTTCTTTAGTAAAACACTGTATTAAATCAAGAATCAGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTGGGCTTGCTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAATAAAATAAATCAAGAATCACACGTGCTGTCCCACTGTCCCTCTCTGCCTGTTTACAATGACAACCATCTCTAATAACAAGACCTACATTCATGCAGCACTTACTAAGTGCCAGGCACAATACCAAGCCCTCACACCCCTTGCCCCTTACATGTCTTGCCTCATTTAATCCTCACAACAACCCAAGGAGGTAGGTACTATTGTCATCCTTATTTAACAGATGAGAAAGCTGCACAGACAGGTTAAGTTACTTGTTCAAGTCTCCACAGCAAGTGAGTGGCAGAGCCCGGATTTTACCCCAGGCAGTCGGACTCGAAACCGTTGCTCCTCCTTACCACCATGATGATTATCCACTCACCGCTCCATCTTTGATGAAAGTATGGCACAGATCTGCAATTTCGTTTCTTGACAGTGATATTCTCCTGAGAAAAAGTTCTCCCCGCTCAATCATGATCTTTTTACATTTGGAGTAATCCTAGGAAGAAAAGAGCAAACTGAGGGGACAGGGAAGATCCAGTTAATGCTGAGAATGTCTGTCACTAAACAGAGAAGTGGAAAGGTAACCCCAGGGAGAACAGGCACTTACGGAGTATTCCAGGGAGGCAAGACTGATGAAGCGGAGGAAGAGCTCCCCGCCAGAGGACACTGCCACAGAGGAGTCCACACCACACAGGGTTTCTATGGCACTGGTGAGATTCGCCCTCAGACCCTGGATTGTCTCCCCTGGAATGATCCAACAAGGAATGTGATGTTCACATTAGGGCCACAGCCCCGACCTGTATCTTCAATTCATTCATTCATTCAGTGAATATTTACTAGGTACATACTATATACCAGGCACTATTCTAGATGCTAGGGATACATCAGTGAACAAGACAGGTAGGGTTCTGCTGTGATGGAGTTTTGATTGTAATAGAGGAAGCGGATAGTAAACAAGCACACATAGAAATAAAGCTGGGTGGCTGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCATGGAAAGACATTAAGTAGCAGCGGCAGATGAGGTCTGCAAGGTGGTATGGGTGAGGCTAAGGTTGTTTGGATGTTATTTTAAGAACAATGGGAAGACACTGGAGGTTGCCTTAAAGACATGTGTCTCTAGGCAAGCCCTTCAGATTAAAGGCTGCATTATTATTTTGCTTATACAAGATTTCATGCTATACCCAGATGCTTACATTTAGGGTGCTGAATTAGGGGATCACAATAAATAATACTAATACCAGAATTTATTCTGGAATATTCCCTGTAGCATCTGTACAGAATCTGGCACAAGGTGGAGGCCTAATAAACACTTATAAAGCTGAACTGCTACTGAAATTTACGCATCATGGTTAACACAATATAACATAGTCACTCTCGATTCAAAGTCTGTTTCACTTATGAAAGGGATCCTTTTCATGACAACGTAAGAGCTCTCTCCAGATTGAAAGGTCTGAAATGAAGGCAGAAGCTGAGCTTGGAGCTGTATTACTACTTTATGCAGGCAAACATGCATCTCTCACTTTCTACATTTCTAAGAGTCATTAGAAGACTTTCCTGGCCGAACATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGGCGAGGCGGACGGATCACCTGAGGCTAGGAGTTTAAGACCACTGTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAAAAAAATTTGGCCGGGCCCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCGACATGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACAAAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACCTGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAAGCGGAGCCTGCAGTGAGCCAAGATGGCACCACTGCACTCCAGCCCGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTTTGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGAGACAAGAGCAAAACTCTGTCTCAAAAAAAACAAACGGCCGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGCAGATTGCCTAAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGTGAAACCCTGTCTCTAAAATACAAAAAAATTAGCCGGACAAGGTGGTGCACACCTATAATCCCAGCTACTCAGGAGGCCAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAG
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Task1_train_18896
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Assess the clinical impact of this variant on gene DHX37 (DEAH-box helicase 37), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; not provided
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AATTGGCCGGGCGCCGTGGCTAATGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCCGGTCAACATGGTGAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTGGAATCCTGGAAGCGGAGGTTGCAGTGAGCTGAGATTGAACCATTGCATTCTAGCCCAGGCCGACAACAGTGAGACTCAGTCTCAAAAACAAAACAAACAAACAAACAAACAAATTATATGCACATGGTGGTGCATGCCTATCATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACATAGCGAGACTCCATCTCAAAAAAAAAAAAATTAAAAAGTGCTGGTGAGGACGTGAAGAAACTGAAACCCTCATTCACTGTTGGTAGGCATGTCAAATGGGGCAGCTGCTGTGGAAAACAGTTTGGTGGCTCCTCGGTAAGTTAAACCCAGAGTTACCATACGGCCCAGCGGTTCTCTTAGGTTCCACTGCAAGAGCAATGAAACCGGAGCCAGACAAATCCTTGCACCTGAGTGTTCAGAGCAGCACTATCCACAATAGCCAAGAGGTGAAAACAACCAAACGTCCACCAGCTGATGAACAGACAAACAAAACTCGGCACATCCATATGGTGTGATATCATTCAGCCACGGCCAGGAACGGGGTGCTGACACCTGCCACCCGGGGTGAGCCTTGAAAACTCACCGTGCTGAGCGGCAGAGGCCAGACACGAGGGGCCACACCTTGTATGACTTTATTGCATTTATCTGAATTGCCCACAACAGGCACATCCCTATAGACAAAAACTAGTGGACTGATGCTTGCCACAGGCTGGGGCGGGGAAGAAGGGGGGTGACTGCAGTGGTCACGGGGTTTCTTTTTGGGTTGATGGGAAGTTCTGACATTGATTGTGGTGATGGTTGCACAACTCTGTGACTGTCCTAAAAACTCCTGGATTGTATGCTTTAAAATTATGTACTTTATGGTATGTGAATTATATCCTGATCAAGCTGTTAACAAACAGCACTCAAGAGCTGCCCCTGACCTCAGTAGCAGAATAAAGAAACAGTGGCCGGGCACGGTGGCTCACGCCTGTGATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAACCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTCCAGTGAGCCAAGATCACGCCACGGCACTCCAGCCTGGGCGACAGAGTGAGACTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAGTGCGAGTAGGCCAGGCATGGTGGCTCACCTGAACTCAGGAGTTCGAGACCAGTCTGGCCAACATGCTGAAACCCCGTCTCTACTAAAAATACAAAAATTAAAATAAATAAATACATATAATAAAAATACACAAATTAGCTGGGCGTGGTGGCGCACACCAGTAATCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATTGCTTCAACGTAGGAGGTGGAGGTTGCAGTGAGTCGAGATCACGCCATTGCATTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATAGTGTGAGTATCTGAAAGCCAGCAAAAGGGCTGGGGAGCACCCCAAAGTCACAGGGGCCCGGCAGGACACGGAACATACTACAGATGGAGGTGGGGGTCAGCATCCTTCCCTTGTTCCTCAGTGGCTATTGCAAGGCGGCACCAACGTCCCTGAGGAGGAGCCTGGGTGACCCACCTGTAGCAGTGGCCGGGCTCCGTCCGTCCTGCTCTGCCCGCTCGCTGGTCAGCTGATGCCTGGGAGACCCAGGTGACACGGAAGGAGGATACGCCAGTGACGCGGTCGTAGTAGCGTTTCTTGACCTTCCCACAGTCCACCACGTACTTGATGCCAGGGATGGTAAGCGACGTCTCGGCCACATTGGTGGCCACAACACACAACCGAGTCCCCTCCGGTGGAGGCTTAAAGACCTAGGATTCGGGGAAGGGATGGCAGGAAAACACCAGAATCAGAAAAGAAATCGTGGAATGGAGGCTCAAGGACAAAGCCAGCCAGGCTGGTGTGCTGGAGACGTAGCAAGGACAAGCCATCCCATCTGGGGCCCAGTGCCTTGGGGGAGGGTTCCCTATTCTCCAAAACTACCCCAATATTCCTCAAAACTCTGGGGATGCTGATCAAACAGCAGATGGAGAGGACCACCAAGGGCTTGACCAACCCCACTGTAATGCCCTTAAAAGTGCCCCAAAAGCTGGGCACCGGCCCAGCACGGTTACCTGTGCTTGCTTCTCTGGGGCCAGCAGAGAGTACAGCGGGAGCACGTGGAGCGGGAGGGAGGCATCCGGCTGCTCACCTGGAGGGAAAGCAGAGGTCACTGGCACCCAGGCCGGGACAGATGCCCACAGGCAGGAGCTGGCCACAGCGGCCCTGCACCCCCAGGCTGCTCCACCAGAGCTCCTTTCTTTGCCCTGCTGCAGAGGCTCCCCTTGGGACCAGCCAGGCCAAGCCTGGGGGAACTGCTGAGAGGTTCCCAGGGGCTCTCTTGTCTCTGCTGCCCTGAACCGGATCTGAACCCCTGTGCTGCACAATCTCCTCCTCCAAACCCCTGGCATGGATCCCGGGAGCCTGACTCCACTCCTCGTGTCCTGGCAGCATTGTGGTGGGGTCAGGCTGAGCCCGTACTGGGGTACTCTCTGCTGCCCCACTCAGCCCCTGGCTGGGCACAGCAGGGCACTGGGTCTGCCTGCATTCAGGGGGCCCCTGCGAGCACACGGAGCTGGGCAACACCCCCAGGCTCTGAAGGCCTGCGTCCCTCAGCAAGGGGTTGGCAGCCCCCATTACATTCAACATGGCAAATGTTTGAGGCCTCCTCGTGCCAGGCAGTTTCAAGAACTCAGGAAGCATCGGGGACAAAGCTGCTAGAACCCCGGCCCCCGGGGGGCCCACAAGGGCTCTGGGCACATCCTCAGGGCAGAGATAATGAACATGAGCAGGAATCGGTGCTCGGGCCACACCTCCATCTTGCCCGCCATCCCCCAGGTCCAGATCGAGGTCGGAGTCCAGGGCCCCCTCTTCCTCATCCACTTCTGCCTCCCTGTCCTCATCGCCTTCGCCTGCCGGTAACACCGAGTAATGATCCAAGTTGATCTGGGGCAGCACCTACGGCGAACAAGACATAGACACCTGGGCTGCAGGGATCCTGGGTGTGAGGACGTGGCACGTGCAGGAAGACAGGTGCCCTCGCATGGAAGCCCCGGTCCACACCCATGGGCCATGCAACCCGGGGCAGGCCACATAATTCTCTCTTCCTGCCAGAATTTCCCCACCTAAACATTGGGGACTATCATAGACCTTGTCTCCCAGGCTGGTGGGAGGGTTGTGTGAACACACGTGAGGAACCTGGATCGCTGCCTGACACATCGGTAGTGCAACAGGCAAGTCAGAGACGGCTGAGTGCTTACGCTACCGTCACGGAGCACAAGACCCACGGTGCCTTCACGCAGAGGCTAGAGGAAAGCCCCTGCCAGCCCAGCCATCCCAGAGTAGCTGGGAGTACAGGTGCACACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGTTGGACTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTAGCCACCACGCCTGGCCTTCTTTTCCATTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGGACCATCACAGCTCATTGCAGCCTTGACCTCCTGGGCTCAGA
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AATTGGCCGGGCGCCGTGGCTAATGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCCGGTCAACATGGTGAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTGGAATCCTGGAAGCGGAGGTTGCAGTGAGCTGAGATTGAACCATTGCATTCTAGCCCAGGCCGACAACAGTGAGACTCAGTCTCAAAAACAAAACAAACAAACAAACAAACAAATTATATGCACATGGTGGTGCATGCCTATCATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACATAGCGAGACTCCATCTCAAAAAAAAAAAAATTAAAAAGTGCTGGTGAGGACGTGAAGAAACTGAAACCCTCATTCACTGTTGGTAGGCATGTCAAATGGGGCAGCTGCTGTGGAAAACAGTTTGGTGGCTCCTCGGTAAGTTAAACCCAGAGTTACCATACGGCCCAGCGGTTCTCTTAGGTTCCACTGCAAGAGCAATGAAACCGGAGCCAGACAAATCCTTGCACCTGAGTGTTCAGAGCAGCACTATCCACAATAGCCAAGAGGTGAAAACAACCAAACGTCCACCAGCTGATGAACAGACAAACAAAACTCGGCACATCCATATGGTGTGATATCATTCAGCCACGGCCAGGAACGGGGTGCTGACACCTGCCACCCGGGGTGAGCCTTGAAAACTCACCGTGCTGAGCGGCAGAGGCCAGACACGAGGGGCCACACCTTGTATGACTTTATTGCATTTATCTGAATTGCCCACAACAGGCACATCCCTATAGACAAAAACTAGTGGACTGATGCTTGCCACAGGCTGGGGCGGGGAAGAAGGGGGGTGACTGCAGTGGTCACGGGGTTTCTTTTTGGGTTGATGGGAAGTTCTGACATTGATTGTGGTGATGGTTGCACAACTCTGTGACTGTCCTAAAAACTCCTGGATTGTATGCTTTAAAATTATGTACTTTATGGTATGTGAATTATATCCTGATCAAGCTGTTAACAAACAGCACTCAAGAGCTGCCCCTGACCTCAGTAGCAGAATAAAGAAACAGTGGCCGGGCACGGTGGCTCACGCCTGTGATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAACCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTCCAGTGAGCCAAGATCACGCCACGGCACTCCAGCCTGGGCGACAGAGTGAGACTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAGTGCGAGTAGGCCAGGCATGGTGGCTCACCTGAACTCAGGAGTTCGAGACCAGTCTGGCCAACATGCTGAAACCCCGTCTCTACTAAAAATACAAAAATTAAAATAAATAAATACATATAATAAAAATACACAAATTAGCTGGGCGTGGTGGCGCACACCAGTAATCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATTGCTTCAACGTAGGAGGTGGAGGTTGCAGTGAGTCGAGATCACGCCATTGCATTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATAGTGTGAGTATCTGAAAGCCAGCAAAAGGGCTGGGGAGCACCCCAAAGTCACAGGGGCCCGGCAGGACACGGAACATACTACAGATGGAGGTGGGGGTCAGCATCCTTCCCTTGTTCCTCAGTGGCTATTGCAAGGCGGCACCAACGTCCCTGAGGAGGAGCCTGGGTGACCCACCTGTAGCAGTGGCCGGGCTCCGTCTGTCCTGCTCTGCCCGCTCGCTGGTCAGCTGATGCCTGGGAGACCCAGGTGACACGGAAGGAGGATACGCCAGTGACGCGGTCGTAGTAGCGTTTCTTGACCTTCCCACAGTCCACCACGTACTTGATGCCAGGGATGGTAAGCGACGTCTCGGCCACATTGGTGGCCACAACACACAACCGAGTCCCCTCCGGTGGAGGCTTAAAGACCTAGGATTCGGGGAAGGGATGGCAGGAAAACACCAGAATCAGAAAAGAAATCGTGGAATGGAGGCTCAAGGACAAAGCCAGCCAGGCTGGTGTGCTGGAGACGTAGCAAGGACAAGCCATCCCATCTGGGGCCCAGTGCCTTGGGGGAGGGTTCCCTATTCTCCAAAACTACCCCAATATTCCTCAAAACTCTGGGGATGCTGATCAAACAGCAGATGGAGAGGACCACCAAGGGCTTGACCAACCCCACTGTAATGCCCTTAAAAGTGCCCCAAAAGCTGGGCACCGGCCCAGCACGGTTACCTGTGCTTGCTTCTCTGGGGCCAGCAGAGAGTACAGCGGGAGCACGTGGAGCGGGAGGGAGGCATCCGGCTGCTCACCTGGAGGGAAAGCAGAGGTCACTGGCACCCAGGCCGGGACAGATGCCCACAGGCAGGAGCTGGCCACAGCGGCCCTGCACCCCCAGGCTGCTCCACCAGAGCTCCTTTCTTTGCCCTGCTGCAGAGGCTCCCCTTGGGACCAGCCAGGCCAAGCCTGGGGGAACTGCTGAGAGGTTCCCAGGGGCTCTCTTGTCTCTGCTGCCCTGAACCGGATCTGAACCCCTGTGCTGCACAATCTCCTCCTCCAAACCCCTGGCATGGATCCCGGGAGCCTGACTCCACTCCTCGTGTCCTGGCAGCATTGTGGTGGGGTCAGGCTGAGCCCGTACTGGGGTACTCTCTGCTGCCCCACTCAGCCCCTGGCTGGGCACAGCAGGGCACTGGGTCTGCCTGCATTCAGGGGGCCCCTGCGAGCACACGGAGCTGGGCAACACCCCCAGGCTCTGAAGGCCTGCGTCCCTCAGCAAGGGGTTGGCAGCCCCCATTACATTCAACATGGCAAATGTTTGAGGCCTCCTCGTGCCAGGCAGTTTCAAGAACTCAGGAAGCATCGGGGACAAAGCTGCTAGAACCCCGGCCCCCGGGGGGCCCACAAGGGCTCTGGGCACATCCTCAGGGCAGAGATAATGAACATGAGCAGGAATCGGTGCTCGGGCCACACCTCCATCTTGCCCGCCATCCCCCAGGTCCAGATCGAGGTCGGAGTCCAGGGCCCCCTCTTCCTCATCCACTTCTGCCTCCCTGTCCTCATCGCCTTCGCCTGCCGGTAACACCGAGTAATGATCCAAGTTGATCTGGGGCAGCACCTACGGCGAACAAGACATAGACACCTGGGCTGCAGGGATCCTGGGTGTGAGGACGTGGCACGTGCAGGAAGACAGGTGCCCTCGCATGGAAGCCCCGGTCCACACCCATGGGCCATGCAACCCGGGGCAGGCCACATAATTCTCTCTTCCTGCCAGAATTTCCCCACCTAAACATTGGGGACTATCATAGACCTTGTCTCCCAGGCTGGTGGGAGGGTTGTGTGAACACACGTGAGGAACCTGGATCGCTGCCTGACACATCGGTAGTGCAACAGGCAAGTCAGAGACGGCTGAGTGCTTACGCTACCGTCACGGAGCACAAGACCCACGGTGCCTTCACGCAGAGGCTAGAGGAAAGCCCCTGCCAGCCCAGCCATCCCAGAGTAGCTGGGAGTACAGGTGCACACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGTTGGACTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTAGCCACCACGCCTGGCCTTCTTTTCCATTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGGACCATCACAGCTCATTGCAGCCTTGACCTCCTGGGCTCAGA
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Task1_train_18897
|
Assess the clinical impact of this variant on gene DHX37 (DEAH-box helicase 37), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; 46,XY sex reversal 11
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GTCAAATGGGGCAGCTGCTGTGGAAAACAGTTTGGTGGCTCCTCGGTAAGTTAAACCCAGAGTTACCATACGGCCCAGCGGTTCTCTTAGGTTCCACTGCAAGAGCAATGAAACCGGAGCCAGACAAATCCTTGCACCTGAGTGTTCAGAGCAGCACTATCCACAATAGCCAAGAGGTGAAAACAACCAAACGTCCACCAGCTGATGAACAGACAAACAAAACTCGGCACATCCATATGGTGTGATATCATTCAGCCACGGCCAGGAACGGGGTGCTGACACCTGCCACCCGGGGTGAGCCTTGAAAACTCACCGTGCTGAGCGGCAGAGGCCAGACACGAGGGGCCACACCTTGTATGACTTTATTGCATTTATCTGAATTGCCCACAACAGGCACATCCCTATAGACAAAAACTAGTGGACTGATGCTTGCCACAGGCTGGGGCGGGGAAGAAGGGGGGTGACTGCAGTGGTCACGGGGTTTCTTTTTGGGTTGATGGGAAGTTCTGACATTGATTGTGGTGATGGTTGCACAACTCTGTGACTGTCCTAAAAACTCCTGGATTGTATGCTTTAAAATTATGTACTTTATGGTATGTGAATTATATCCTGATCAAGCTGTTAACAAACAGCACTCAAGAGCTGCCCCTGACCTCAGTAGCAGAATAAAGAAACAGTGGCCGGGCACGGTGGCTCACGCCTGTGATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAACCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTCCAGTGAGCCAAGATCACGCCACGGCACTCCAGCCTGGGCGACAGAGTGAGACTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAGTGCGAGTAGGCCAGGCATGGTGGCTCACCTGAACTCAGGAGTTCGAGACCAGTCTGGCCAACATGCTGAAACCCCGTCTCTACTAAAAATACAAAAATTAAAATAAATAAATACATATAATAAAAATACACAAATTAGCTGGGCGTGGTGGCGCACACCAGTAATCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATTGCTTCAACGTAGGAGGTGGAGGTTGCAGTGAGTCGAGATCACGCCATTGCATTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATAGTGTGAGTATCTGAAAGCCAGCAAAAGGGCTGGGGAGCACCCCAAAGTCACAGGGGCCCGGCAGGACACGGAACATACTACAGATGGAGGTGGGGGTCAGCATCCTTCCCTTGTTCCTCAGTGGCTATTGCAAGGCGGCACCAACGTCCCTGAGGAGGAGCCTGGGTGACCCACCTGTAGCAGTGGCCGGGCTCCGTCCGTCCTGCTCTGCCCGCTCGCTGGTCAGCTGATGCCTGGGAGACCCAGGTGACACGGAAGGAGGATACGCCAGTGACGCGGTCGTAGTAGCGTTTCTTGACCTTCCCACAGTCCACCACGTACTTGATGCCAGGGATGGTAAGCGACGTCTCGGCCACATTGGTGGCCACAACACACAACCGAGTCCCCTCCGGTGGAGGCTTAAAGACCTAGGATTCGGGGAAGGGATGGCAGGAAAACACCAGAATCAGAAAAGAAATCGTGGAATGGAGGCTCAAGGACAAAGCCAGCCAGGCTGGTGTGCTGGAGACGTAGCAAGGACAAGCCATCCCATCTGGGGCCCAGTGCCTTGGGGGAGGGTTCCCTATTCTCCAAAACTACCCCAATATTCCTCAAAACTCTGGGGATGCTGATCAAACAGCAGATGGAGAGGACCACCAAGGGCTTGACCAACCCCACTGTAATGCCCTTAAAAGTGCCCCAAAAGCTGGGCACCGGCCCAGCACGGTTACCTGTGCTTGCTTCTCTGGGGCCAGCAGAGAGTACAGCGGGAGCACGTGGAGCGGGAGGGAGGCATCCGGCTGCTCACCTGGAGGGAAAGCAGAGGTCACTGGCACCCAGGCCGGGACAGATGCCCACAGGCAGGAGCTGGCCACAGCGGCCCTGCACCCCCAGGCTGCTCCACCAGAGCTCCTTTCTTTGCCCTGCTGCAGAGGCTCCCCTTGGGACCAGCCAGGCCAAGCCTGGGGGAACTGCTGAGAGGTTCCCAGGGGCTCTCTTGTCTCTGCTGCCCTGAACCGGATCTGAACCCCTGTGCTGCACAATCTCCTCCTCCAAACCCCTGGCATGGATCCCGGGAGCCTGACTCCACTCCTCGTGTCCTGGCAGCATTGTGGTGGGGTCAGGCTGAGCCCGTACTGGGGTACTCTCTGCTGCCCCACTCAGCCCCTGGCTGGGCACAGCAGGGCACTGGGTCTGCCTGCATTCAGGGGGCCCCTGCGAGCACACGGAGCTGGGCAACACCCCCAGGCTCTGAAGGCCTGCGTCCCTCAGCAAGGGGTTGGCAGCCCCCATTACATTCAACATGGCAAATGTTTGAGGCCTCCTCGTGCCAGGCAGTTTCAAGAACTCAGGAAGCATCGGGGACAAAGCTGCTAGAACCCCGGCCCCCGGGGGGCCCACAAGGGCTCTGGGCACATCCTCAGGGCAGAGATAATGAACATGAGCAGGAATCGGTGCTCGGGCCACACCTCCATCTTGCCCGCCATCCCCCAGGTCCAGATCGAGGTCGGAGTCCAGGGCCCCCTCTTCCTCATCCACTTCTGCCTCCCTGTCCTCATCGCCTTCGCCTGCCGGTAACACCGAGTAATGATCCAAGTTGATCTGGGGCAGCACCTACGGCGAACAAGACATAGACACCTGGGCTGCAGGGATCCTGGGTGTGAGGACGTGGCACGTGCAGGAAGACAGGTGCCCTCGCATGGAAGCCCCGGTCCACACCCATGGGCCATGCAACCCGGGGCAGGCCACATAATTCTCTCTTCCTGCCAGAATTTCCCCACCTAAACATTGGGGACTATCATAGACCTTGTCTCCCAGGCTGGTGGGAGGGTTGTGTGAACACACGTGAGGAACCTGGATCGCTGCCTGACACATCGGTAGTGCAACAGGCAAGTCAGAGACGGCTGAGTGCTTACGCTACCGTCACGGAGCACAAGACCCACGGTGCCTTCACGCAGAGGCTAGAGGAAAGCCCCTGCCAGCCCAGCCATCCCAGAGTAGCTGGGAGTACAGGTGCACACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGTTGGACTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTAGCCACCACGCCTGGCCTTCTTTTCCATTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGGACCATCACAGCTCATTGCAGCCTTGACCTCCTGGGCTCAGATGGTTCTCCCACCTCAGCCTCTGAGCAGCTGGGACCACAGGCATGCGCCACTGCACTGGATTAATCTAAAAAATTTTTTGTAGAGACATGGTCTCACCATGTTGCCCAAGCTGGTCTCAAACTCTAGGCCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGTGCCTGACCAGGAACTGGATTTTTAACTTCATTTTATTCCAATTACACTTAAACCTAAGCAGCCACATGGGGCTGGTAGCTGCCATCCTGGACAACGCAGCCTTACTCTCCAGGAGTCCCTGCCAGCCCCCCACGTACCTCAGCCCGCGCCTTCTTGGCCCTGGCCCTTGACTTCTTAAACTTCCGCATTTCCTCCACCGAGTCTTTCTGATCGTCGTCCTTTTCTGGGAGAGGGGCAGGTTGGGGAGAAAGGCGTCTGTGGCCGGCGTGGTCGCCAGCACACTGCCCTTTGTTGTTCAAGGCATGGCCACTCAGTGGTGGCCATTTATTCGGGGGTGAGGTGGGGGATGG
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GTCAAATGGGGCAGCTGCTGTGGAAAACAGTTTGGTGGCTCCTCGGTAAGTTAAACCCAGAGTTACCATACGGCCCAGCGGTTCTCTTAGGTTCCACTGCAAGAGCAATGAAACCGGAGCCAGACAAATCCTTGCACCTGAGTGTTCAGAGCAGCACTATCCACAATAGCCAAGAGGTGAAAACAACCAAACGTCCACCAGCTGATGAACAGACAAACAAAACTCGGCACATCCATATGGTGTGATATCATTCAGCCACGGCCAGGAACGGGGTGCTGACACCTGCCACCCGGGGTGAGCCTTGAAAACTCACCGTGCTGAGCGGCAGAGGCCAGACACGAGGGGCCACACCTTGTATGACTTTATTGCATTTATCTGAATTGCCCACAACAGGCACATCCCTATAGACAAAAACTAGTGGACTGATGCTTGCCACAGGCTGGGGCGGGGAAGAAGGGGGGTGACTGCAGTGGTCACGGGGTTTCTTTTTGGGTTGATGGGAAGTTCTGACATTGATTGTGGTGATGGTTGCACAACTCTGTGACTGTCCTAAAAACTCCTGGATTGTATGCTTTAAAATTATGTACTTTATGGTATGTGAATTATATCCTGATCAAGCTGTTAACAAACAGCACTCAAGAGCTGCCCCTGACCTCAGTAGCAGAATAAAGAAACAGTGGCCGGGCACGGTGGCTCACGCCTGTGATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAACCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTCCAGTGAGCCAAGATCACGCCACGGCACTCCAGCCTGGGCGACAGAGTGAGACTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAGTGCGAGTAGGCCAGGCATGGTGGCTCACCTGAACTCAGGAGTTCGAGACCAGTCTGGCCAACATGCTGAAACCCCGTCTCTACTAAAAATACAAAAATTAAAATAAATAAATACATATAATAAAAATACACAAATTAGCTGGGCGTGGTGGCGCACACCAGTAATCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATTGCTTCAACGTAGGAGGTGGAGGTTGCAGTGAGTCGAGATCACGCCATTGCATTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATAGTGTGAGTATCTGAAAGCCAGCAAAAGGGCTGGGGAGCACCCCAAAGTCACAGGGGCCCGGCAGGACACGGAACATACTACAGATGGAGGTGGGGGTCAGCATCCTTCCCTTGTTCCTCAGTGGCTATTGCAAGGCGGCACCAACGTCCCTGAGGAGGAGCCTGGGTGACCCACCTGTAGCAGTGGCCGGGCTCCGTCCGTCCTGCTCTGCCCGCTCGCTGGTCAGCTGATGCCTGGGAGACCCAGGTGACACGGAAGGAGGATACGCCAGTGACGCGGTCGTAGTAGCGTTTCTTGACCTTCCCACAGTCCACCACGTACTTGATGCCAGGGATGGTAAGCGACGTCTCGGCCACATTGGTGGCCACAACACACAACCGAGTCCCCTCCGGTGGAGGCTTAAAGACCTAGGATTCGGGGAAGGGATGGCAGGAAAACACCAGAATCAGAAAAGAAATCGTGGAATGGAGGCTCAAGGACAAAGCCAGCCAGGCTGGTGTGCTGGAGACGTAGCAAGGACAAGCCATCCCATCTGGGGCCCAGTGCCTTGGGGGAGGGTTCCCTATTCTCCAAAACTACCCCAATATTCCTCAAAACTCTGGGGATGCTGATCAAACAGCAGATGGAGAGGACCACCAAGGGCTTGACCAACCCCACTGTAATGCCCTTAAAAGTGCCCCAAAAGCTGGGCACCGGCCCAGCACGGTTACCTGTGCTTGCTTCTCTGGGGCCAGCAGAAAGTACAGCGGGAGCACGTGGAGCGGGAGGGAGGCATCCGGCTGCTCACCTGGAGGGAAAGCAGAGGTCACTGGCACCCAGGCCGGGACAGATGCCCACAGGCAGGAGCTGGCCACAGCGGCCCTGCACCCCCAGGCTGCTCCACCAGAGCTCCTTTCTTTGCCCTGCTGCAGAGGCTCCCCTTGGGACCAGCCAGGCCAAGCCTGGGGGAACTGCTGAGAGGTTCCCAGGGGCTCTCTTGTCTCTGCTGCCCTGAACCGGATCTGAACCCCTGTGCTGCACAATCTCCTCCTCCAAACCCCTGGCATGGATCCCGGGAGCCTGACTCCACTCCTCGTGTCCTGGCAGCATTGTGGTGGGGTCAGGCTGAGCCCGTACTGGGGTACTCTCTGCTGCCCCACTCAGCCCCTGGCTGGGCACAGCAGGGCACTGGGTCTGCCTGCATTCAGGGGGCCCCTGCGAGCACACGGAGCTGGGCAACACCCCCAGGCTCTGAAGGCCTGCGTCCCTCAGCAAGGGGTTGGCAGCCCCCATTACATTCAACATGGCAAATGTTTGAGGCCTCCTCGTGCCAGGCAGTTTCAAGAACTCAGGAAGCATCGGGGACAAAGCTGCTAGAACCCCGGCCCCCGGGGGGCCCACAAGGGCTCTGGGCACATCCTCAGGGCAGAGATAATGAACATGAGCAGGAATCGGTGCTCGGGCCACACCTCCATCTTGCCCGCCATCCCCCAGGTCCAGATCGAGGTCGGAGTCCAGGGCCCCCTCTTCCTCATCCACTTCTGCCTCCCTGTCCTCATCGCCTTCGCCTGCCGGTAACACCGAGTAATGATCCAAGTTGATCTGGGGCAGCACCTACGGCGAACAAGACATAGACACCTGGGCTGCAGGGATCCTGGGTGTGAGGACGTGGCACGTGCAGGAAGACAGGTGCCCTCGCATGGAAGCCCCGGTCCACACCCATGGGCCATGCAACCCGGGGCAGGCCACATAATTCTCTCTTCCTGCCAGAATTTCCCCACCTAAACATTGGGGACTATCATAGACCTTGTCTCCCAGGCTGGTGGGAGGGTTGTGTGAACACACGTGAGGAACCTGGATCGCTGCCTGACACATCGGTAGTGCAACAGGCAAGTCAGAGACGGCTGAGTGCTTACGCTACCGTCACGGAGCACAAGACCCACGGTGCCTTCACGCAGAGGCTAGAGGAAAGCCCCTGCCAGCCCAGCCATCCCAGAGTAGCTGGGAGTACAGGTGCACACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGTTGGACTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTAGCCACCACGCCTGGCCTTCTTTTCCATTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGGACCATCACAGCTCATTGCAGCCTTGACCTCCTGGGCTCAGATGGTTCTCCCACCTCAGCCTCTGAGCAGCTGGGACCACAGGCATGCGCCACTGCACTGGATTAATCTAAAAAATTTTTTGTAGAGACATGGTCTCACCATGTTGCCCAAGCTGGTCTCAAACTCTAGGCCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGTGCCTGACCAGGAACTGGATTTTTAACTTCATTTTATTCCAATTACACTTAAACCTAAGCAGCCACATGGGGCTGGTAGCTGCCATCCTGGACAACGCAGCCTTACTCTCCAGGAGTCCCTGCCAGCCCCCCACGTACCTCAGCCCGCGCCTTCTTGGCCCTGGCCCTTGACTTCTTAAACTTCCGCATTTCCTCCACCGAGTCTTTCTGATCGTCGTCCTTTTCTGGGAGAGGGGCAGGTTGGGGAGAAAGGCGTCTGTGGCCGGCGTGGTCGCCAGCACACTGCCCTTTGTTGTTCAAGGCATGGCCACTCAGTGGTGGCCATTTATTCGGGGGTGAGGTGGGGGATGG
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Task1_train_18898
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Gene DHX37 (DEAH-box helicase 37) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; DHX37-related disorder
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TCTTATCTCTCAGATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGATTCTTCTGCCTCAGCCTCCTGAATAGCTGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGTTTTCTTCATGTTTGTCAGGCTAGTCACAAACTCCCAACCTCTGGTGATCCACCTGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCCGTGCCCAGTCCCCAAATTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCAGACTGCAGTGGTGCTATCTCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCATTACAGGCACCCGCCACTGCGCACGGCTAATTTTTTGTATTTTTTTCAAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACCCAGTCCCCAAATTTTTATAATATTTAACAAGTTAAAAAGAGAATGAGGCAGCTTTTCCTAGACGCATGCCAACTATGCACAGAATTGTCCAGGAGGACGTGCAGGAGATGGTCAGTGGTGGCTGCTCCTGGAGAGGAGGCAGGGCATTGGGTGAGAAGGGGCCCCCAGTACTCCATCCCTGCCTTAGCGTCCTCCGAGCCTAACGTACAAAGACAACAAGTCCCCCAACTGGCATGCTGACCCGGGGGCCGGTGGCTCTGTCTGGTCCACCACCACGTCCTGAGAGCCCAGGATGGGCCTGGCACACTAGATGCTGCCTAGTAACATCTGCTGAGTGGGCAGATGAGGCAGGCTCTCACTCTGTGCTCTTTTGTGCCTTCTGGATTTTAGACCATGCTGGACATGTTAGACACAGGCCTCTGCATTATAAACATATGCTCCCAGCCATTGTAAAGCAAGTGCTATATCTGCCTGTTCAAGGCTGCTTTCCAAAGCAAGTCCTACAGACTTACCGCCTGAAGATTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGTGCGATCTTGGCTTACGGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAACCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTCATCTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGTTGGTCTCGAATTCCAGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGCGCTGGAATTACAGGCGTGAGCCACCACACCCGGCCAAGATTTTGTACTTTAGAACCTTGAGTTTTAGATTAACCCGGCAATGCTAGGTACTAGCTCCGTGACTGCCTGCATCTGGCCCCCTGCTCTGTTCTCGAGCCCCTGGATGGGCCACTCTGTCCCCTCGGCACACTGTGCAGGACGTAAGCTTGCTTGGAGGCCCCCTGCTTGGGCAGGTCCTGGAAAGTTCTCTCACACAATGATTCCCAGTGCTACATGCAGAGGTGACACTCCACCCAGCACCCTCGGCACAGATGCTGCTCACCTCCTCCTGGGCTTCCCACATCTGGGCAAGGCCACAGGACCACCCCATAGTCCGCCCCAGGGAAGTAGAGCCCTCACCGCTGGGACAGATTCATCTCCTTGGCCACTCGCTGGGACATGGCCACGGCGGCCACTCGGCGGGGCTCCGTGACACCGATGATGCTGTCTTCACTGGGGGAGGAAGAACATGGCCATCAACAGTGCGCGGCCCCACCTGTTCATGCCAAAGCCTCATGCAGTTCCACAGCAAGATTTGCCATACTGACCTGGCGCTCACCCAGGGGCGGTGGGAAACAGTGCCAGGTTGCACTACTTTTAACAGCAAACGGAACAGCCCAAAGGCCAACACATAGAAAACGGTTCGACATTCACCATGCAGCGGACACCAGGCAGCCGCTAGAAGGAACGGGGCCTGGGGGAACCAGGCTGGGAGCTCTGTTTGCCCCAGTCAAGCACAAGCTCCTCCAGACACAGGAACCCGCCAAGCCGATGGGTGGCTGGTCCCAGCTCTGTGGGAACATTAACACCACAGACCTGCAGCTGCTCTCCCTCGAAAGGCTGCTGACGGGGCTGGCCCTCGCTGGGTGCCTGAACCTGTACAACAGGAGAGCTCCTTCCATTCCCTGTAAGTGCGGGGCCCACTGTGCCCAGCCTGTTTGTGCAAACAGGGTGGTTTATGCCGGACACCTGCTTTCCTTTTAGGCGTCTAGGATTTCGTTCCTGCCAGGCAGGGTGGGCTTAGGCGACCCCAGTAACAGCCGTGGACCCTGAATCTCTAACTAGCTTCCCTGGTGGAGGATAGTTCCTGTGTGGCCACAGGTGGCTACTGGAGAATCCAGTGCGTCCTGTGTGAGTCCACCGGGAGGGGACTCTGGAAGCTGGAGCTGGGTTTCCCCAGAACACCCCAGGTACCACTGCCCTCTGCTGATCGCGTCCTTCGCTGTAATATACCATAGCCATGTGCAGGATAACATGCTGAGTCCTGGGAGTCCCCGGTCAATCACCGAACCTGAGCATGGTCTTGGGGACCCCAACACACATGGGTCAAAAGTGCCAATAGCAGGCTACACAGTGAAAATGGTAAGCGCAGGCTGGGCGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGTGAAACTCTGTCTCTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCAACAGAGTGAGGCTCCGTCTCAAAAATAATAATAATAAAAAGAAAAAAGAAAAAAAAAAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTGTTGAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGTTGCAGTGAGCCAATATCACACCACTGTACTCCAGCCGGGGTGACACAGCGAGACGCTGTCTCAAAAAAAAAAAAAAAAGGAAAAAAGAAAATAGTAAGCACATAGCTCTACGTGCCAGGAATTAAGTGTGCTACGCAAGTTCACTCACTTAATCCACACGACAACCTTGTGAAGTAGGCGCTATTATTCCCATCTCACAGCTGGGGCCCAGAGAGGTTAAGTAGCTTGTCTGAAGTCACACAGCATGCACAGGGCAGATCCAGGATTGGATCCTGGGGAGCCCAGGCTCTTATCGACCTTTCAGGGCATCTCCAGTGTCACTGAGGGACCCAGAGAGAACCCTGTGTCCAGCCCCTACCTGCTGAAGCCTGCTTCATAGAGAAACTGAGGCACCTGTGTGGTCTTCCCGCTGCCGGTCTCACCACACACGATGACGATGGGGTGCTCGGCCACAGCCTCCATGATTACTTGTTCTTCGGAGAGAATTGGGAGCTTCAGCCGTTCCTCCTGGAAGGAGAGGAAGTCAGCACTTAGGGAGCA
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TCTTATCTCTCAGATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGATTCTTCTGCCTCAGCCTCCTGAATAGCTGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGTTTTCTTCATGTTTGTCAGGCTAGTCACAAACTCCCAACCTCTGGTGATCCACCTGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCCGTGCCCAGTCCCCAAATTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCAGACTGCAGTGGTGCTATCTCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCATTACAGGCACCCGCCACTGCGCACGGCTAATTTTTTGTATTTTTTTCAAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACCCAGTCCCCAAATTTTTATAATATTTAACAAGTTAAAAAGAGAATGAGGCAGCTTTTCCTAGACGCATGCCAACTATGCACAGAATTGTCCAGGAGGACGTGCAGGAGATGGTCAGTGGTGGCTGCTCCTGGAGAGGAGGCAGGGCATTGGGTGAGAAGGGGCCCCCAGTACTCCATCCCTGCCTTAGCGTCCTCCGAGCCTAACGTACAAAGACAACAAGTCCCCCAACTGGCATGCTGACCCGGGGGCCGGTGGCTCTGTCTGGTCCACCACCACGTCCTGAGAGCCCAGGATGGGCCTGGCACACTAGATGCTGCCTAGTAACATCTGCTGAGTGGGCAGATGAGGCAGGCTCTCACTCTGTGCTCTTTTGTGCCTTCTGGATTTTAGACCATGCTGGACATGTTAGACACAGGCCTCTGCATTATAAACATATGCTCCCAGCCATTGTAAAGCAAGTGCTATATCTGCCTGTTCAAGGCTGCTTTCCAAAGCAAGTCCTACAGACTTACCGCCTGAAGATTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGTGCGATCTTGGCTTACGGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAACCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTCATCTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGTTGGTCTCGAATTCCAGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGCGCTGGAATTACAGGCGTGAGCCACCACACCCGGCCAAGATTTTGTACTTTAGAACCTTGAGTTTTAGATTAACCCGGCAATGCTAGGTACTAGCTCCGTGACTGCCTGCATCTGGCCCCCTGCTCTGTTCTCGAGCCCCTGGATGGGCCACTCTGTCCCCTCGGCACACTGTGCAGGACGTAAGCTTGCTTGGAGGCCCCCTGCTTGGGCAGGTCCTGGAAAGTTCTCTCACACAATGATTCCCAGTGCTACATGCAGAGGTGACACTCCACCCAGCACCCTCGGCACAGATGCTGCTCACCTCCTCCTGGGCTTCCCACATCTGGGCAAGGCCACAGGACCACCCCATAGTCCGCCCCAGGGAAGTAGAGCCCTCACCGCTGGGACAGATTCATCTCCTTGGCCACTCGCTGGGACATGGCCACGGCGGCCACTTGGCGGGGCTCCGTGACACCGATGATGCTGTCTTCACTGGGGGAGGAAGAACATGGCCATCAACAGTGCGCGGCCCCACCTGTTCATGCCAAAGCCTCATGCAGTTCCACAGCAAGATTTGCCATACTGACCTGGCGCTCACCCAGGGGCGGTGGGAAACAGTGCCAGGTTGCACTACTTTTAACAGCAAACGGAACAGCCCAAAGGCCAACACATAGAAAACGGTTCGACATTCACCATGCAGCGGACACCAGGCAGCCGCTAGAAGGAACGGGGCCTGGGGGAACCAGGCTGGGAGCTCTGTTTGCCCCAGTCAAGCACAAGCTCCTCCAGACACAGGAACCCGCCAAGCCGATGGGTGGCTGGTCCCAGCTCTGTGGGAACATTAACACCACAGACCTGCAGCTGCTCTCCCTCGAAAGGCTGCTGACGGGGCTGGCCCTCGCTGGGTGCCTGAACCTGTACAACAGGAGAGCTCCTTCCATTCCCTGTAAGTGCGGGGCCCACTGTGCCCAGCCTGTTTGTGCAAACAGGGTGGTTTATGCCGGACACCTGCTTTCCTTTTAGGCGTCTAGGATTTCGTTCCTGCCAGGCAGGGTGGGCTTAGGCGACCCCAGTAACAGCCGTGGACCCTGAATCTCTAACTAGCTTCCCTGGTGGAGGATAGTTCCTGTGTGGCCACAGGTGGCTACTGGAGAATCCAGTGCGTCCTGTGTGAGTCCACCGGGAGGGGACTCTGGAAGCTGGAGCTGGGTTTCCCCAGAACACCCCAGGTACCACTGCCCTCTGCTGATCGCGTCCTTCGCTGTAATATACCATAGCCATGTGCAGGATAACATGCTGAGTCCTGGGAGTCCCCGGTCAATCACCGAACCTGAGCATGGTCTTGGGGACCCCAACACACATGGGTCAAAAGTGCCAATAGCAGGCTACACAGTGAAAATGGTAAGCGCAGGCTGGGCGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGTGAAACTCTGTCTCTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCAACAGAGTGAGGCTCCGTCTCAAAAATAATAATAATAAAAAGAAAAAAGAAAAAAAAAAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTGTTGAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGTTGCAGTGAGCCAATATCACACCACTGTACTCCAGCCGGGGTGACACAGCGAGACGCTGTCTCAAAAAAAAAAAAAAAAGGAAAAAAGAAAATAGTAAGCACATAGCTCTACGTGCCAGGAATTAAGTGTGCTACGCAAGTTCACTCACTTAATCCACACGACAACCTTGTGAAGTAGGCGCTATTATTCCCATCTCACAGCTGGGGCCCAGAGAGGTTAAGTAGCTTGTCTGAAGTCACACAGCATGCACAGGGCAGATCCAGGATTGGATCCTGGGGAGCCCAGGCTCTTATCGACCTTTCAGGGCATCTCCAGTGTCACTGAGGGACCCAGAGAGAACCCTGTGTCCAGCCCCTACCTGCTGAAGCCTGCTTCATAGAGAAACTGAGGCACCTGTGTGGTCTTCCCGCTGCCGGTCTCACCACACACGATGACGATGGGGTGCTCGGCCACAGCCTCCATGATTACTTGTTCTTCGGAGAGAATTGGGAGCTTCAGCCGTTCCTCCTGGAAGGAGAGGAAGTCAGCACTTAGGGAGCA
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Task1_train_18899
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Consider a variant on Chromosome 12 in gene DHX37 (DEAH-box helicase 37). Determine its clinical classification and disease relevance.
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Pathogenic; 46,XY sex reversal 11
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TCTTATCTCTCAGATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGATTCTTCTGCCTCAGCCTCCTGAATAGCTGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGTTTTCTTCATGTTTGTCAGGCTAGTCACAAACTCCCAACCTCTGGTGATCCACCTGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCCGTGCCCAGTCCCCAAATTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCAGACTGCAGTGGTGCTATCTCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCATTACAGGCACCCGCCACTGCGCACGGCTAATTTTTTGTATTTTTTTCAAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACCCAGTCCCCAAATTTTTATAATATTTAACAAGTTAAAAAGAGAATGAGGCAGCTTTTCCTAGACGCATGCCAACTATGCACAGAATTGTCCAGGAGGACGTGCAGGAGATGGTCAGTGGTGGCTGCTCCTGGAGAGGAGGCAGGGCATTGGGTGAGAAGGGGCCCCCAGTACTCCATCCCTGCCTTAGCGTCCTCCGAGCCTAACGTACAAAGACAACAAGTCCCCCAACTGGCATGCTGACCCGGGGGCCGGTGGCTCTGTCTGGTCCACCACCACGTCCTGAGAGCCCAGGATGGGCCTGGCACACTAGATGCTGCCTAGTAACATCTGCTGAGTGGGCAGATGAGGCAGGCTCTCACTCTGTGCTCTTTTGTGCCTTCTGGATTTTAGACCATGCTGGACATGTTAGACACAGGCCTCTGCATTATAAACATATGCTCCCAGCCATTGTAAAGCAAGTGCTATATCTGCCTGTTCAAGGCTGCTTTCCAAAGCAAGTCCTACAGACTTACCGCCTGAAGATTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGTGCGATCTTGGCTTACGGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAACCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTCATCTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGTTGGTCTCGAATTCCAGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGCGCTGGAATTACAGGCGTGAGCCACCACACCCGGCCAAGATTTTGTACTTTAGAACCTTGAGTTTTAGATTAACCCGGCAATGCTAGGTACTAGCTCCGTGACTGCCTGCATCTGGCCCCCTGCTCTGTTCTCGAGCCCCTGGATGGGCCACTCTGTCCCCTCGGCACACTGTGCAGGACGTAAGCTTGCTTGGAGGCCCCCTGCTTGGGCAGGTCCTGGAAAGTTCTCTCACACAATGATTCCCAGTGCTACATGCAGAGGTGACACTCCACCCAGCACCCTCGGCACAGATGCTGCTCACCTCCTCCTGGGCTTCCCACATCTGGGCAAGGCCACAGGACCACCCCATAGTCCGCCCCAGGGAAGTAGAGCCCTCACCGCTGGGACAGATTCATCTCCTTGGCCACTCGCTGGGACATGGCCACGGCGGCCACTCGGCGGGGCTCCGTGACACCGATGATGCTGTCTTCACTGGGGGAGGAAGAACATGGCCATCAACAGTGCGCGGCCCCACCTGTTCATGCCAAAGCCTCATGCAGTTCCACAGCAAGATTTGCCATACTGACCTGGCGCTCACCCAGGGGCGGTGGGAAACAGTGCCAGGTTGCACTACTTTTAACAGCAAACGGAACAGCCCAAAGGCCAACACATAGAAAACGGTTCGACATTCACCATGCAGCGGACACCAGGCAGCCGCTAGAAGGAACGGGGCCTGGGGGAACCAGGCTGGGAGCTCTGTTTGCCCCAGTCAAGCACAAGCTCCTCCAGACACAGGAACCCGCCAAGCCGATGGGTGGCTGGTCCCAGCTCTGTGGGAACATTAACACCACAGACCTGCAGCTGCTCTCCCTCGAAAGGCTGCTGACGGGGCTGGCCCTCGCTGGGTGCCTGAACCTGTACAACAGGAGAGCTCCTTCCATTCCCTGTAAGTGCGGGGCCCACTGTGCCCAGCCTGTTTGTGCAAACAGGGTGGTTTATGCCGGACACCTGCTTTCCTTTTAGGCGTCTAGGATTTCGTTCCTGCCAGGCAGGGTGGGCTTAGGCGACCCCAGTAACAGCCGTGGACCCTGAATCTCTAACTAGCTTCCCTGGTGGAGGATAGTTCCTGTGTGGCCACAGGTGGCTACTGGAGAATCCAGTGCGTCCTGTGTGAGTCCACCGGGAGGGGACTCTGGAAGCTGGAGCTGGGTTTCCCCAGAACACCCCAGGTACCACTGCCCTCTGCTGATCGCGTCCTTCGCTGTAATATACCATAGCCATGTGCAGGATAACATGCTGAGTCCTGGGAGTCCCCGGTCAATCACCGAACCTGAGCATGGTCTTGGGGACCCCAACACACATGGGTCAAAAGTGCCAATAGCAGGCTACACAGTGAAAATGGTAAGCGCAGGCTGGGCGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGTGAAACTCTGTCTCTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCAACAGAGTGAGGCTCCGTCTCAAAAATAATAATAATAAAAAGAAAAAAGAAAAAAAAAAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTGTTGAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGTTGCAGTGAGCCAATATCACACCACTGTACTCCAGCCGGGGTGACACAGCGAGACGCTGTCTCAAAAAAAAAAAAAAAAGGAAAAAAGAAAATAGTAAGCACATAGCTCTACGTGCCAGGAATTAAGTGTGCTACGCAAGTTCACTCACTTAATCCACACGACAACCTTGTGAAGTAGGCGCTATTATTCCCATCTCACAGCTGGGGCCCAGAGAGGTTAAGTAGCTTGTCTGAAGTCACACAGCATGCACAGGGCAGATCCAGGATTGGATCCTGGGGAGCCCAGGCTCTTATCGACCTTTCAGGGCATCTCCAGTGTCACTGAGGGACCCAGAGAGAACCCTGTGTCCAGCCCCTACCTGCTGAAGCCTGCTTCATAGAGAAACTGAGGCACCTGTGTGGTCTTCCCGCTGCCGGTCTCACCACACACGATGACGATGGGGTGCTCGGCCACAGCCTCCATGATTACTTGTTCTTCGGAGAGAATTGGGAGCTTCAGCCGTTCCTCCTGGAAGGAGAGGAAGTCAGCACTTAGGGAGCA
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TCTTATCTCTCAGATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGATTCTTCTGCCTCAGCCTCCTGAATAGCTGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGTTTTCTTCATGTTTGTCAGGCTAGTCACAAACTCCCAACCTCTGGTGATCCACCTGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCCGTGCCCAGTCCCCAAATTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCAGACTGCAGTGGTGCTATCTCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCATTACAGGCACCCGCCACTGCGCACGGCTAATTTTTTGTATTTTTTTCAAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACCCAGTCCCCAAATTTTTATAATATTTAACAAGTTAAAAAGAGAATGAGGCAGCTTTTCCTAGACGCATGCCAACTATGCACAGAATTGTCCAGGAGGACGTGCAGGAGATGGTCAGTGGTGGCTGCTCCTGGAGAGGAGGCAGGGCATTGGGTGAGAAGGGGCCCCCAGTACTCCATCCCTGCCTTAGCGTCCTCCGAGCCTAACGTACAAAGACAACAAGTCCCCCAACTGGCATGCTGACCCGGGGGCCGGTGGCTCTGTCTGGTCCACCACCACGTCCTGAGAGCCCAGGATGGGCCTGGCACACTAGATGCTGCCTAGTAACATCTGCTGAGTGGGCAGATGAGGCAGGCTCTCACTCTGTGCTCTTTTGTGCCTTCTGGATTTTAGACCATGCTGGACATGTTAGACACAGGCCTCTGCATTATAAACATATGCTCCCAGCCATTGTAAAGCAAGTGCTATATCTGCCTGTTCAAGGCTGCTTTCCAAAGCAAGTCCTACAGACTTACCGCCTGAAGATTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGTGCGATCTTGGCTTACGGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAACCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTCATCTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGTTGGTCTCGAATTCCAGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGCGCTGGAATTACAGGCGTGAGCCACCACACCCGGCCAAGATTTTGTACTTTAGAACCTTGAGTTTTAGATTAACCCGGCAATGCTAGGTACTAGCTCCGTGACTGCCTGCATCTGGCCCCCTGCTCTGTTCTCGAGCCCCTGGATGGGCCACTCTGTCCCCTCGGCACACTGTGCAGGACGTAAGCTTGCTTGGAGGCCCCCTGCTTGGGCAGGTCCTGGAAAGTTCTCTCACACAATGATTCCCAGTGCTACATGCAGAGGTGACACTCCACCCAGCACCCTCGGCACAGATGCTGCTCACCTCCTCCTGGGCTTCCCACATCTGGGCAAGGCCACAGGACCACCCCATAGTCCGCCCCAGGGAAGTAGAGCCCTCACCGCTGGGACAGATTCATCTCCTTGGCCACTCGCTGGGACATGGCCACGGCGGCCACTTGGCGGGGCTCCGTGACACCGATGATGCTGTCTTCACTGGGGGAGGAAGAACATGGCCATCAACAGTGCGCGGCCCCACCTGTTCATGCCAAAGCCTCATGCAGTTCCACAGCAAGATTTGCCATACTGACCTGGCGCTCACCCAGGGGCGGTGGGAAACAGTGCCAGGTTGCACTACTTTTAACAGCAAACGGAACAGCCCAAAGGCCAACACATAGAAAACGGTTCGACATTCACCATGCAGCGGACACCAGGCAGCCGCTAGAAGGAACGGGGCCTGGGGGAACCAGGCTGGGAGCTCTGTTTGCCCCAGTCAAGCACAAGCTCCTCCAGACACAGGAACCCGCCAAGCCGATGGGTGGCTGGTCCCAGCTCTGTGGGAACATTAACACCACAGACCTGCAGCTGCTCTCCCTCGAAAGGCTGCTGACGGGGCTGGCCCTCGCTGGGTGCCTGAACCTGTACAACAGGAGAGCTCCTTCCATTCCCTGTAAGTGCGGGGCCCACTGTGCCCAGCCTGTTTGTGCAAACAGGGTGGTTTATGCCGGACACCTGCTTTCCTTTTAGGCGTCTAGGATTTCGTTCCTGCCAGGCAGGGTGGGCTTAGGCGACCCCAGTAACAGCCGTGGACCCTGAATCTCTAACTAGCTTCCCTGGTGGAGGATAGTTCCTGTGTGGCCACAGGTGGCTACTGGAGAATCCAGTGCGTCCTGTGTGAGTCCACCGGGAGGGGACTCTGGAAGCTGGAGCTGGGTTTCCCCAGAACACCCCAGGTACCACTGCCCTCTGCTGATCGCGTCCTTCGCTGTAATATACCATAGCCATGTGCAGGATAACATGCTGAGTCCTGGGAGTCCCCGGTCAATCACCGAACCTGAGCATGGTCTTGGGGACCCCAACACACATGGGTCAAAAGTGCCAATAGCAGGCTACACAGTGAAAATGGTAAGCGCAGGCTGGGCGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGTGAAACTCTGTCTCTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCAACAGAGTGAGGCTCCGTCTCAAAAATAATAATAATAAAAAGAAAAAAGAAAAAAAAAAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTGTTGAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGTTGCAGTGAGCCAATATCACACCACTGTACTCCAGCCGGGGTGACACAGCGAGACGCTGTCTCAAAAAAAAAAAAAAAAGGAAAAAAGAAAATAGTAAGCACATAGCTCTACGTGCCAGGAATTAAGTGTGCTACGCAAGTTCACTCACTTAATCCACACGACAACCTTGTGAAGTAGGCGCTATTATTCCCATCTCACAGCTGGGGCCCAGAGAGGTTAAGTAGCTTGTCTGAAGTCACACAGCATGCACAGGGCAGATCCAGGATTGGATCCTGGGGAGCCCAGGCTCTTATCGACCTTTCAGGGCATCTCCAGTGTCACTGAGGGACCCAGAGAGAACCCTGTGTCCAGCCCCTACCTGCTGAAGCCTGCTTCATAGAGAAACTGAGGCACCTGTGTGGTCTTCCCGCTGCCGGTCTCACCACACACGATGACGATGGGGTGCTCGGCCACAGCCTCCATGATTACTTGTTCTTCGGAGAGAATTGGGAGCTTCAGCCGTTCCTCCTGGAAGGAGAGGAAGTCAGCACTTAGGGAGCA
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Subsets and Splits
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