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_18900
|
Given this context: Chromosome 12, gene DHX37 (DEAH-box helicase 37) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; 46,XY sex reversal 11
|
GATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGATTCTTCTGCCTCAGCCTCCTGAATAGCTGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGTTTTCTTCATGTTTGTCAGGCTAGTCACAAACTCCCAACCTCTGGTGATCCACCTGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCCGTGCCCAGTCCCCAAATTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCAGACTGCAGTGGTGCTATCTCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCATTACAGGCACCCGCCACTGCGCACGGCTAATTTTTTGTATTTTTTTCAAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACCCAGTCCCCAAATTTTTATAATATTTAACAAGTTAAAAAGAGAATGAGGCAGCTTTTCCTAGACGCATGCCAACTATGCACAGAATTGTCCAGGAGGACGTGCAGGAGATGGTCAGTGGTGGCTGCTCCTGGAGAGGAGGCAGGGCATTGGGTGAGAAGGGGCCCCCAGTACTCCATCCCTGCCTTAGCGTCCTCCGAGCCTAACGTACAAAGACAACAAGTCCCCCAACTGGCATGCTGACCCGGGGGCCGGTGGCTCTGTCTGGTCCACCACCACGTCCTGAGAGCCCAGGATGGGCCTGGCACACTAGATGCTGCCTAGTAACATCTGCTGAGTGGGCAGATGAGGCAGGCTCTCACTCTGTGCTCTTTTGTGCCTTCTGGATTTTAGACCATGCTGGACATGTTAGACACAGGCCTCTGCATTATAAACATATGCTCCCAGCCATTGTAAAGCAAGTGCTATATCTGCCTGTTCAAGGCTGCTTTCCAAAGCAAGTCCTACAGACTTACCGCCTGAAGATTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGTGCGATCTTGGCTTACGGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAACCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTCATCTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGTTGGTCTCGAATTCCAGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGCGCTGGAATTACAGGCGTGAGCCACCACACCCGGCCAAGATTTTGTACTTTAGAACCTTGAGTTTTAGATTAACCCGGCAATGCTAGGTACTAGCTCCGTGACTGCCTGCATCTGGCCCCCTGCTCTGTTCTCGAGCCCCTGGATGGGCCACTCTGTCCCCTCGGCACACTGTGCAGGACGTAAGCTTGCTTGGAGGCCCCCTGCTTGGGCAGGTCCTGGAAAGTTCTCTCACACAATGATTCCCAGTGCTACATGCAGAGGTGACACTCCACCCAGCACCCTCGGCACAGATGCTGCTCACCTCCTCCTGGGCTTCCCACATCTGGGCAAGGCCACAGGACCACCCCATAGTCCGCCCCAGGGAAGTAGAGCCCTCACCGCTGGGACAGATTCATCTCCTTGGCCACTCGCTGGGACATGGCCACGGCGGCCACTCGGCGGGGCTCCGTGACACCGATGATGCTGTCTTCACTGGGGGAGGAAGAACATGGCCATCAACAGTGCGCGGCCCCACCTGTTCATGCCAAAGCCTCATGCAGTTCCACAGCAAGATTTGCCATACTGACCTGGCGCTCACCCAGGGGCGGTGGGAAACAGTGCCAGGTTGCACTACTTTTAACAGCAAACGGAACAGCCCAAAGGCCAACACATAGAAAACGGTTCGACATTCACCATGCAGCGGACACCAGGCAGCCGCTAGAAGGAACGGGGCCTGGGGGAACCAGGCTGGGAGCTCTGTTTGCCCCAGTCAAGCACAAGCTCCTCCAGACACAGGAACCCGCCAAGCCGATGGGTGGCTGGTCCCAGCTCTGTGGGAACATTAACACCACAGACCTGCAGCTGCTCTCCCTCGAAAGGCTGCTGACGGGGCTGGCCCTCGCTGGGTGCCTGAACCTGTACAACAGGAGAGCTCCTTCCATTCCCTGTAAGTGCGGGGCCCACTGTGCCCAGCCTGTTTGTGCAAACAGGGTGGTTTATGCCGGACACCTGCTTTCCTTTTAGGCGTCTAGGATTTCGTTCCTGCCAGGCAGGGTGGGCTTAGGCGACCCCAGTAACAGCCGTGGACCCTGAATCTCTAACTAGCTTCCCTGGTGGAGGATAGTTCCTGTGTGGCCACAGGTGGCTACTGGAGAATCCAGTGCGTCCTGTGTGAGTCCACCGGGAGGGGACTCTGGAAGCTGGAGCTGGGTTTCCCCAGAACACCCCAGGTACCACTGCCCTCTGCTGATCGCGTCCTTCGCTGTAATATACCATAGCCATGTGCAGGATAACATGCTGAGTCCTGGGAGTCCCCGGTCAATCACCGAACCTGAGCATGGTCTTGGGGACCCCAACACACATGGGTCAAAAGTGCCAATAGCAGGCTACACAGTGAAAATGGTAAGCGCAGGCTGGGCGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGTGAAACTCTGTCTCTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCAACAGAGTGAGGCTCCGTCTCAAAAATAATAATAATAAAAAGAAAAAAGAAAAAAAAAAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTGTTGAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGTTGCAGTGAGCCAATATCACACCACTGTACTCCAGCCGGGGTGACACAGCGAGACGCTGTCTCAAAAAAAAAAAAAAAAGGAAAAAAGAAAATAGTAAGCACATAGCTCTACGTGCCAGGAATTAAGTGTGCTACGCAAGTTCACTCACTTAATCCACACGACAACCTTGTGAAGTAGGCGCTATTATTCCCATCTCACAGCTGGGGCCCAGAGAGGTTAAGTAGCTTGTCTGAAGTCACACAGCATGCACAGGGCAGATCCAGGATTGGATCCTGGGGAGCCCAGGCTCTTATCGACCTTTCAGGGCATCTCCAGTGTCACTGAGGGACCCAGAGAGAACCCTGTGTCCAGCCCCTACCTGCTGAAGCCTGCTTCATAGAGAAACTGAGGCACCTGTGTGGTCTTCCCGCTGCCGGTCTCACCACACACGATGACGATGGGGTGCTCGGCCACAGCCTCCATGATTACTTGTTCTTCGGAGAGAATTGGGAGCTTCAGCCGTTCCTCCTGGAAGGAGAGGAAGTCAGCACTTAGGGAGCAGCAAGACTATAG
|
GATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGATTCTTCTGCCTCAGCCTCCTGAATAGCTGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGTTTTCTTCATGTTTGTCAGGCTAGTCACAAACTCCCAACCTCTGGTGATCCACCTGCCTCGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCCGTGCCCAGTCCCCAAATTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCAGACTGCAGTGGTGCTATCTCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCATTACAGGCACCCGCCACTGCGCACGGCTAATTTTTTGTATTTTTTTCAAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACCCAGTCCCCAAATTTTTATAATATTTAACAAGTTAAAAAGAGAATGAGGCAGCTTTTCCTAGACGCATGCCAACTATGCACAGAATTGTCCAGGAGGACGTGCAGGAGATGGTCAGTGGTGGCTGCTCCTGGAGAGGAGGCAGGGCATTGGGTGAGAAGGGGCCCCCAGTACTCCATCCCTGCCTTAGCGTCCTCCGAGCCTAACGTACAAAGACAACAAGTCCCCCAACTGGCATGCTGACCCGGGGGCCGGTGGCTCTGTCTGGTCCACCACCACGTCCTGAGAGCCCAGGATGGGCCTGGCACACTAGATGCTGCCTAGTAACATCTGCTGAGTGGGCAGATGAGGCAGGCTCTCACTCTGTGCTCTTTTGTGCCTTCTGGATTTTAGACCATGCTGGACATGTTAGACACAGGCCTCTGCATTATAAACATATGCTCCCAGCCATTGTAAAGCAAGTGCTATATCTGCCTGTTCAAGGCTGCTTTCCAAAGCAAGTCCTACAGACTTACCGCCTGAAGATTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGTGCGATCTTGGCTTACGGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAACCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTCATCTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGTTGGTCTCGAATTCCAGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGCGCTGGAATTACAGGCGTGAGCCACCACACCCGGCCAAGATTTTGTACTTTAGAACCTTGAGTTTTAGATTAACCCGGCAATGCTAGGTACTAGCTCCGTGACTGCCTGCATCTGGCCCCCTGCTCTGTTCTCGAGCCCCTGGATGGGCCACTCTGTCCCCTCGGCACACTGTGCAGGACGTAAGCTTGCTTGGAGGCCCCCTGCTTGGGCAGGTCCTGGAAAGTTCTCTCACACAATGATTCCCAGTGCTACATGCAGAGGTGACACTCCACCCAGCACCCTCGGCACAGATGCTGCTCACCTCCTCCTGGGCTTCCCACATCTGGGCAAGGCCACAGGACCACCCCATAGTCCGCCCCAGGGAAGTAGAGCCCTCACCGCTGGGACAGATTCATCTCCTTGGCCACTCGCTGGGACATGGCCACGGCGGCCACTCGGCGGGGCTCCATGACACCGATGATGCTGTCTTCACTGGGGGAGGAAGAACATGGCCATCAACAGTGCGCGGCCCCACCTGTTCATGCCAAAGCCTCATGCAGTTCCACAGCAAGATTTGCCATACTGACCTGGCGCTCACCCAGGGGCGGTGGGAAACAGTGCCAGGTTGCACTACTTTTAACAGCAAACGGAACAGCCCAAAGGCCAACACATAGAAAACGGTTCGACATTCACCATGCAGCGGACACCAGGCAGCCGCTAGAAGGAACGGGGCCTGGGGGAACCAGGCTGGGAGCTCTGTTTGCCCCAGTCAAGCACAAGCTCCTCCAGACACAGGAACCCGCCAAGCCGATGGGTGGCTGGTCCCAGCTCTGTGGGAACATTAACACCACAGACCTGCAGCTGCTCTCCCTCGAAAGGCTGCTGACGGGGCTGGCCCTCGCTGGGTGCCTGAACCTGTACAACAGGAGAGCTCCTTCCATTCCCTGTAAGTGCGGGGCCCACTGTGCCCAGCCTGTTTGTGCAAACAGGGTGGTTTATGCCGGACACCTGCTTTCCTTTTAGGCGTCTAGGATTTCGTTCCTGCCAGGCAGGGTGGGCTTAGGCGACCCCAGTAACAGCCGTGGACCCTGAATCTCTAACTAGCTTCCCTGGTGGAGGATAGTTCCTGTGTGGCCACAGGTGGCTACTGGAGAATCCAGTGCGTCCTGTGTGAGTCCACCGGGAGGGGACTCTGGAAGCTGGAGCTGGGTTTCCCCAGAACACCCCAGGTACCACTGCCCTCTGCTGATCGCGTCCTTCGCTGTAATATACCATAGCCATGTGCAGGATAACATGCTGAGTCCTGGGAGTCCCCGGTCAATCACCGAACCTGAGCATGGTCTTGGGGACCCCAACACACATGGGTCAAAAGTGCCAATAGCAGGCTACACAGTGAAAATGGTAAGCGCAGGCTGGGCGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGTGAAACTCTGTCTCTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCAACAGAGTGAGGCTCCGTCTCAAAAATAATAATAATAAAAAGAAAAAAGAAAAAAAAAAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTGTTGAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGTTGCAGTGAGCCAATATCACACCACTGTACTCCAGCCGGGGTGACACAGCGAGACGCTGTCTCAAAAAAAAAAAAAAAAGGAAAAAAGAAAATAGTAAGCACATAGCTCTACGTGCCAGGAATTAAGTGTGCTACGCAAGTTCACTCACTTAATCCACACGACAACCTTGTGAAGTAGGCGCTATTATTCCCATCTCACAGCTGGGGCCCAGAGAGGTTAAGTAGCTTGTCTGAAGTCACACAGCATGCACAGGGCAGATCCAGGATTGGATCCTGGGGAGCCCAGGCTCTTATCGACCTTTCAGGGCATCTCCAGTGTCACTGAGGGACCCAGAGAGAACCCTGTGTCCAGCCCCTACCTGCTGAAGCCTGCTTCATAGAGAAACTGAGGCACCTGTGTGGTCTTCCCGCTGCCGGTCTCACCACACACGATGACGATGGGGTGCTCGGCCACAGCCTCCATGATTACTTGTTCTTCGGAGAGAATTGGGAGCTTCAGCCGTTCCTCCTGGAAGGAGAGGAAGTCAGCACTTAGGGAGCAGCAAGACTATAG
|
Task1_train_18901
|
Here is a mutation in LOC132090059, PUS1 (Neanderthal introgressed variant-containing enhancer experimental_25941| pseudouridine synthase 1) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Myopathy, lactic acidosis, and sideroblastic anemia 1
|
TCCGGCAGGATTTAGGTGCAGGCCCAAGCAGCTTTCACTGCTCCTGCTGCACGCGAGCTCCTGCTGCTTTCCATCAGGCCCGGCCCTGCCGCTAACCGCTGTTATCTGGGGCGGGGTTCACTTGCTGGGTGCCTGAGTCCTCATCTTTAGGATGGGAGTGCTCACAGCACCTGCTAAGTAGAGTGTGAAGATGAGCTAGGTGTACTGACGCTCGGTGCTGAGAACAGTGGACAGCTCGGGGCAGCTCAGAAGAGCCTGCTGTCGTGAGCGTTAAGGGGACAGAGAGCTAAGTATTAAAGTTGTGAGGATTCTCTCCTCAGCCCACTTCCTTTTCTGGAAGGTAGAGGGTCTGGGTACATTCAGGTAGGTGTATTTTTTTTTCTTTTTGAGGCGTGGTCTCCCTTTGTGGTCCAGGCTGGAATGCAGTGGTGCATCCACACTGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCGAACATCGAGGGCTGTAAGTGTCCTTGACCTCACGGCCTGAATAATTTTTTTTATAATTTGCAGGAATGGTGTCTTGCTAAGTTTTTTATTATTTATAGGAATGGGGTCTCGCTGTGTTGCCCAGGCTGCTCTCCAACTCCTGGGCTCAAGCGATCCTCCTGCCTCGGCCTTCCTGTGTTGTGATTACAGGCATGAGCCACTGCGACTGGCCTCAGGTAGACATTCCTTTTGTTCCTTTTTGTAGTTACCACTGTGGCTTTGCGCAGTTCTGTGTTCTTTAAACATCTTTAAACATTTCCACAGAAGTTCATGCAGTGCGTGCAGTGTCTGACTGAAACAAAAGTTTAAGAAAATAATGCTTAACTTCGGCAGTTGTTATAACAGCTTTTATGGTGAAAGTTATAAGTAATAGATTGCTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATTTTGGCTTACTGCAGCCTCCGCCTCCCGGGTTCCACCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACGCCCATCTAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCTGACCTCAGAGTATCCTCCTGTCTCCGTCTCCCAAAGTGCTGGAATTACAGGGGTGAGCCACAGAGCCCGGCCAACCACTGTGCACTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTAAAAGCATACCTAATTATTTATTTATTTATTTATTTTTGAGACAGAGTTTTCCTCTGTCACCTAGGCTGGAGTGCAGTGGTACATTATCAGTTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTCCTGCCTCAAGAGCCCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGACTGGTCTCGAACTCCTGATCTCAAGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCATAGATTACTTTATAGTCAATGTTTTTTTTTTAAAGTATAGGTAGCACCCACGGCACTGATTTTGTAACTGACAGATTGTGGAAGTAGGTGTATGCACAGGTTCAATCAAACCTGTGTTTTGATTCCATTCCACACTACCCACCCCCTAGCATGGAGCAGCCCGGCCCCAGGGTGAGTGAGCAGAAAACAGTGTTTTCACATGAGCGTGGCAGCTCACACTTGTAATCTCAGCACTTCAGGAGGCCAGAGGAGTAAGCGGCCAGGAGTTCGAGACCAGCCTGGGCAACATCATGGCGACCTCTGTCTGCAAAATATAAAATCTGTTTTTGTCTCCTTTTTCCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGTGGGTGGTGGCCTTCTCTGCCCCTCCCCCGCTGCTATGAGCAGCACGTGGCCCACTTTCCAGCTCAGTGTTCTGGCTTGTTATGCTGTTTCTGAGCACATAATGATGTACAAATCAAACTAGCCTACGCCTTATGTAGGTGAGACGTCCAGGAGCCTGGTCGGCTCAGGTATAGCTGGATCTAGATGCTCCCTGCCAGTGGGACTCTGTGTTCTCTCTGGTCTTTGCTTTCTCTTGTGTTGATTCTGTTCTCAGGGACACACATTCTTGCAGGTGGCACAGTGGCGGCCGCAATGTCTGCTTTCGACCCTCCAATCAGGCTCACTCTGAGGCAGATGTAATTGTGTGGCTGCAAAGGCAGAGAGCCACACTTGTATGATGCAACATTCTCTTTTCTTTCCTTTTTTAGAGTCAGGATCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGTCTCAAACTGCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGTGTATTAGTCTGTTGTCACACTGTTATAAAGAACTGCTCAAGATTGGGCAGTTTATAAAGAAAAGAGGTTGAATTGACTCAGTTCCACATGGCTGGGGAGGCCTCAGGAAACAGATCATGGCGGCAGGTGCGAGAGAGTGAGGAGGGTAAGGGGAAGAGCCCCTTGTAAACCATCAGATCTTGGGAGAACTCACTCACTATCACGAGAACAGCATGGGGGAAGCCGGGCCCATGATCCAGTCACCTCCCACCAGGTCTTCCCTAGACACTTGGGGATTACCTTCAACATGAGATTTGGCGGGGACACAGCAAAACCGTATCACTGGAATGACAGGCACTCCACCATGCCTGGCTAAATTTTTTTTTTTTTTTTTTTTTAATATGGGGTCTTGCTGTGTTGCTCAGGGGTCTCAAACTCCTGGGCTCCAGTCATCTTCCCACCTTGGCGTCCCAAAGTACTGGGATTTACAGGCATGAACCGCCACATCTGGCTTGAAATTAATAAATAATTCACTGTATTATAAACTGAGTATATTCAGGATATCCTCATTTCGGCGTGTAATCCATATAAAAATCTCTTCATGGGATAAATGTAATACTGTTTTTGTGTGTATGCTAAGTCCACACTCATCACAAATCCACCACCCTGGACCTGTTTTGTGGTCTCAGCTGCATGGGGCTGGTGACCCAGCACTGTTCCTTCAGAACCACAAGGCTGAGTACTCCTGTTTGCGATTGGTTTTCACGTCCACCCTGGACGCTGCTGCTGGCCTGTGTGGAAGCACATGCCAAGTGGTCCTGTGACGCCACATTCCTGTGCTTGGGACTGAACCATGGGATTGGGTGTGCACAGAGTGGCCCGCCACAGGGAATGGGGATGTCTCTAAGGAGGGACCCAGTGTAGGGTCCAGCCCTACAGGGCCTGTGGGTTTTCTCTTCATGTGCGGAGACAAGAGATCGTAGAAAAATAAAGATACGAGACAAAGAGATAGAAGGAAAGACAGCTGGGTCCAGGGGACCACTACCACCAATGGGCCGAACCTGATAGTGGCCCCAAATGCCTGGACGCACTGCTATTTATTGTATACAAGGCAAGGGGACAGGGTAAGGAGCGTGTGTCATCTCAAGTGATTGATAAGGTCACGCGAGTGACATGTCCACCGGACAGGGGTCCTTTCCCTTTGTGGTAGGTGAGGCGGAGAGGAAGGACAGCATACGTCAGCATTTCTTCTATGCACTTATCAGAAAGATCAAAGACTTTAATACTTTCACTAATTGTGCTACTGCTATCTTCTAAGAACTGAAAAGCAGGAGCCAGGTGTGCAGGTGGAGCATGAAAGTGGACAAGGAGCGTGACCGTTGAAGCACCACAGGGAGCTGTTTAAGCCCGCTGATGACTGCGGGCAGGCCTGGGTAATGTCAGGCCTCCCACAAGAGGTGGTGGAGCAGAGTGTTCTCTGACTACCCTGGGGAGAGGGAGACTCCCTTTGCCGGTCTGTGAAGTAACAGG
|
TCCGGCAGGATTTAGGTGCAGGCCCAAGCAGCTTTCACTGCTCCTGCTGCACGCGAGCTCCTGCTGCTTTCCATCAGGCCCGGCCCTGCCGCTAACCGCTGTTATCTGGGGCGGGGTTCACTTGCTGGGTGCCTGAGTCCTCATCTTTAGGATGGGAGTGCTCACAGCACCTGCTAAGTAGAGTGTGAAGATGAGCTAGGTGTACTGACGCTCGGTGCTGAGAACAGTGGACAGCTCGGGGCAGCTCAGAAGAGCCTGCTGTCGTGAGCGTTAAGGGGACAGAGAGCTAAGTATTAAAGTTGTGAGGATTCTCTCCTCAGCCCACTTCCTTTTCTGGAAGGTAGAGGGTCTGGGTACATTCAGGTAGGTGTATTTTTTTTTCTTTTTGAGGCGTGGTCTCCCTTTGTGGTCCAGGCTGGAATGCAGTGGTGCATCCACACTGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCGAACATCGAGGGCTGTAAGTGTCCTTGACCTCACGGCCTGAATAATTTTTTTTATAATTTGCAGGAATGGTGTCTTGCTAAGTTTTTTATTATTTATAGGAATGGGGTCTCGCTGTGTTGCCCAGGCTGCTCTCCAACTCCTGGGCTCAAGCGATCCTCCTGCCTCGGCCTTCCTGTGTTGTGATTACAGGCATGAGCCACTGCGACTGGCCTCAGGTAGACATTCCTTTTGTTCCTTTTTGTAGTTACCACTGTGGCTTTGCGCAGTTCTGTGTTCTTTAAACATCTTTAAACATTTCCACAGAAGTTCATGCAGTGCGTGCAGTGTCTGACTGAAACAAAAGTTTAAGAAAATAATGCTTAACTTCGGCAGTTGTTATAACAGCTTTTATGGTGAAAGTTATAAGTAATAGATTGCTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATTTTGGCTTACTGCAGCCTCCGCCTCCCGGGTTCCACCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACGCCCATCTAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCTGACCTCAGAGTATCCTCCTGTCTCCGTCTCCCAAAGTGCTGGAATTACAGGGGTGAGCCACAGAGCCCGGCCAACCACTGTGCACTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTAAAAGCATACCTAATTATTTATTTATTTATTTATTTTTGAGACAGAGTTTTCCTCTGTCACCTAGGCTGGAGTGCAGTGGTACATTATCAGTTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTCCTGCCTCAAGAGCCCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGACTGGTCTCGAACTCCTGATCTCAAGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCATAGATTACTTTATAGTCAATGTTTTTTTTTTAAAGTATAGGTAGCACCCACGGCACTGATTTTGTAACTGACAGATTGTGGAAGTAGGTGTATGCACAGGTTCAATCAAACCTGTGTTTTGATTCCATTCCACACTACCCACCCCCTAGCATGGAGCAGCCCGGCCCCAGGGTGAGTGAGCAGAAAACAGTGTTTTCACATGAGCGTGGCAGCTCACACTTGTAATCTCAGCACTTCAGGAGGCCAGAGGAGTAAGCGGCCAGGAGTTCGAGACCAGCCTGGGCAACATCATGGCGACCTCTGTCTGCAAAATATAAAATCTGTTTTTGTCTCCTTTTTCCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCTGGACAGACAAGGTGGGTGGTGGCCTTCTCTGCCCCTCCCCCGCTGCTATGAGCAGCACGTGGCCCACTTTCCAGCTCAGTGTTCTGGCTTGTTATGCTGTTTCTGAGCACATAATGATGTACAAATCAAACTAGCCTACGCCTTATGTAGGTGAGACGTCCAGGAGCCTGGTCGGCTCAGGTATAGCTGGATCTAGATGCTCCCTGCCAGTGGGACTCTGTGTTCTCTCTGGTCTTTGCTTTCTCTTGTGTTGATTCTGTTCTCAGGGACACACATTCTTGCAGGTGGCACAGTGGCGGCCGCAATGTCTGCTTTCGACCCTCCAATCAGGCTCACTCTGAGGCAGATGTAATTGTGTGGCTGCAAAGGCAGAGAGCCACACTTGTATGATGCAACATTCTCTTTTCTTTCCTTTTTTAGAGTCAGGATCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGTCTCAAACTGCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGTGTATTAGTCTGTTGTCACACTGTTATAAAGAACTGCTCAAGATTGGGCAGTTTATAAAGAAAAGAGGTTGAATTGACTCAGTTCCACATGGCTGGGGAGGCCTCAGGAAACAGATCATGGCGGCAGGTGCGAGAGAGTGAGGAGGGTAAGGGGAAGAGCCCCTTGTAAACCATCAGATCTTGGGAGAACTCACTCACTATCACGAGAACAGCATGGGGGAAGCCGGGCCCATGATCCAGTCACCTCCCACCAGGTCTTCCCTAGACACTTGGGGATTACCTTCAACATGAGATTTGGCGGGGACACAGCAAAACCGTATCACTGGAATGACAGGCACTCCACCATGCCTGGCTAAATTTTTTTTTTTTTTTTTTTTTAATATGGGGTCTTGCTGTGTTGCTCAGGGGTCTCAAACTCCTGGGCTCCAGTCATCTTCCCACCTTGGCGTCCCAAAGTACTGGGATTTACAGGCATGAACCGCCACATCTGGCTTGAAATTAATAAATAATTCACTGTATTATAAACTGAGTATATTCAGGATATCCTCATTTCGGCGTGTAATCCATATAAAAATCTCTTCATGGGATAAATGTAATACTGTTTTTGTGTGTATGCTAAGTCCACACTCATCACAAATCCACCACCCTGGACCTGTTTTGTGGTCTCAGCTGCATGGGGCTGGTGACCCAGCACTGTTCCTTCAGAACCACAAGGCTGAGTACTCCTGTTTGCGATTGGTTTTCACGTCCACCCTGGACGCTGCTGCTGGCCTGTGTGGAAGCACATGCCAAGTGGTCCTGTGACGCCACATTCCTGTGCTTGGGACTGAACCATGGGATTGGGTGTGCACAGAGTGGCCCGCCACAGGGAATGGGGATGTCTCTAAGGAGGGACCCAGTGTAGGGTCCAGCCCTACAGGGCCTGTGGGTTTTCTCTTCATGTGCGGAGACAAGAGATCGTAGAAAAATAAAGATACGAGACAAAGAGATAGAAGGAAAGACAGCTGGGTCCAGGGGACCACTACCACCAATGGGCCGAACCTGATAGTGGCCCCAAATGCCTGGACGCACTGCTATTTATTGTATACAAGGCAAGGGGACAGGGTAAGGAGCGTGTGTCATCTCAAGTGATTGATAAGGTCACGCGAGTGACATGTCCACCGGACAGGGGTCCTTTCCCTTTGTGGTAGGTGAGGCGGAGAGGAAGGACAGCATACGTCAGCATTTCTTCTATGCACTTATCAGAAAGATCAAAGACTTTAATACTTTCACTAATTGTGCTACTGCTATCTTCTAAGAACTGAAAAGCAGGAGCCAGGTGTGCAGGTGGAGCATGAAAGTGGACAAGGAGCGTGACCGTTGAAGCACCACAGGGAGCTGTTTAAGCCCGCTGATGACTGCGGGCAGGCCTGGGTAATGTCAGGCCTCCCACAAGAGGTGGTGGAGCAGAGTGTTCTCTGACTACCCTGGGGAGAGGGAGACTCCCTTTGCCGGTCTGTGAAGTAACAGG
|
Task1_train_18902
|
A variant affecting Chromosome 12, within the gene PUS1 (pseudouridine synthase 1), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Myopathy, lactic acidosis, and sideroblastic anemia 1
|
GCCTCCTTAAAATGTGACTGTCTACCTTTTAAGTGGCAGGTACAGGCAACTTACATAATACATTCGTTCATTCATTTATTCTGTTTGTTTTTTGAGAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAGTCCTCAGCCTCCTGAGTAACTGGGACTACAGGTGTGTGCCACCACACTTCATTTTTGAGTTTGTAGAGATGGGGTCTCATTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAGAAGCCGCTTATATTTAATGTAATGATAGGTGTGGCTGGGCGTGAATCTGTCGTCTTGCTCTCTGTTTTCTTTTCCTTTTTGTTTTGGTGTCATCCCAAGAAAACAGAACTGTTGTCTGCCTGACTGGTCTGCTTGGAGAGAAGTGTTTGAGACAGGGTCTTGTTCTGTTGCCGAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGTAGCATCGACCACCTGGGCTCAAGGGATCCTCCCGCCTCAGCCTATAAGCTGGGACTACAGGCACACGCCACCACAGCCGGCTGAATTTTTATTTTTATTTGTAGAGATGGGGTTTCGCCATGTCGCCCAGGCTGGTCTCAAACTCCTAGGCTCAATCAGTTTACCTGCCTCAGCCTCCCAAAGTGTTGGCATTACAGGCATGAGCTGCTATGCCCAGCCCACAGCCTGATTATTTTAAGATTCATCCGTGCTGTTGTGTATGTCAGCAGTCTGTTCCTTCTCATTGCTGCGGGGTGTTCTGTTCTGTGGGTGTGCCACGGATTGTTTATACAGTTACCTGCTGAAGGACATTGGATGATTTCTAGTTTTGGGCTGTTAGAAGTAAAGCCACTAAGAACATTTACATATGAGTCATAAATAGGATTCAGTAATCCCTGTTGATTTTACCCACTGTTAAGTTTTTGTTTTTATTTTTATATTTTTTATGATGGAGTCTTGTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCTGCCTCCTGGGTTCAAGTGATTCTCCCACCTCAGCCTTCCCAGTAGCTGGGATTACAGGTACACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTAGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCTGCTTTTATTATTTTAAATTCACACATAATTATACATACTTATGTAGAATTATGTGTGATATTTCCAGTCATGTATAAAGATCAAATAGGGCAATTAGCATAATATATCCATCACTCCAAGCATGTATCATTTCTTTGTGTTGGAGACATTCCGTATCTTCTCACTATTGGAAAATTACAATAAATGGTTGTAAATTCAGTCACCTTATAGAGCACTGCACCTGTCCCTCCTGTCCATCGTCCTCCTGTGCCTGTTCCCCAGCCTGTGGCTGCCCCCTCCCCAGAGAAGCCGATGCTTGCTGGAGCTTGGTCGGTGCTCTGGGTAAGGAGACGCTGGGGCTCACGCCGTGCTCAGGCTGCTCCCTGGTCATCCAGGCACTTCTCACCTGCCTTTCTCCTCCCTGACCACCTCCCCCCTAGGACTGAAGCGGGTCACGGGCGGGTTTAACTCCAAGAACAGATGTGATGCCAGGACCTATTGCTACCTGCTGCCCACGTTTGCCTTTGCGCACAAGGACCGGGACGTTCAGGATGAGACCTACCGCCTGAGCGCCGAGACGCTGCAGCAGGTCAACAGGCTCCTGGCCTGCTACAAGGGCACGCACAACTTCCACAATTTCACCTCGCAGAAGGGGCCGCAGGATCCCAGTGCCTGCCGCTACATCCTGGAGATGTACTGCGAGGAACCCTTTGTGCGGGAGGGCCTGGAGTTTGCGGTGATCAGGGTGAAGGGCCAGAGCTTCATGATGCATCAGATCCGGAAGATGGTCGGCCTGGTGGTGGCCATTGTGAAGGGTTATGCCCCTGAGAGCGTGCTGGAGCGCAGCTGGGGCACAGAGAAGGTGGACGTGCCCAAGGCGCCCGGACTCGGCCTGGTCCTGGAGAGGGTGCACTTCGAGAAGTACAACCAGCGCTTTGGCAACGATGGGCTGCATGAGCCGCTGGACTGGGCGCAGGAGGAAGGAAAGGTCGCAGCCTTCAAGGAGGAGCACATCTACCCCACCATCATCGGCACCGAGCGGGACGAACGCTCCATGGCCCAGTGGCTGAGCACCTTGCCCATCCACAACTTCAGTGCCACCGCTCTCACGGCAGGTGGCACGGGCGCCAAGGTAGGGGCACAGTCCCAGCAGTGCTCAGCAGAACACAGGCCCACATTGTTCCCATTGTACAGAGGAGTGAGCTGAGGCACAGAGAAGTGTGTCACTTCCCCGCAAGGCCACACAGCTGCTGCAGGAGCAGGGGCAGGCGGTCTTGAGATGTTCCTTGTCTGCATGCCTGCGCCACCCACTTGCTCCCCCACGGGGTGCTTTTCGACCCTGGGAGGGCTGTCCCAGGGTCAGGCTTGCTGCCAGCACACCTACTATGGACCTGGCATGGAGCATAATCAGCAGCTAGACAGCTGCGGAATGTAGCTTAGAACCGGAACATACAGGATTGTAGGTGCAGAAGCTAAAAGCTAAGTGAATGAAAATGTCATTCTCAGTTCTTCGCTCTGGGGTGAGAGATGTCCCCAAAGCCCGAGTTTGTTCTTTCTTTTTTTTTTGTTGTTTGAGACGAAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTCATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACTGCGTCCGGCCAGCCTGAGTTCTTTCATGGTGGCCCAGTGAGGTTTCAAAGGGTGACATTCCCAGGCAGGGCTCAGGGAGATTCTTCCTGTCATCTAGATATCTGTGAAAAGAGAGTCCTTCCTGCATACCTGGGTGGCAGATTCAACTGTGTGCAGGCCCCAGGGAGGTAAGGTGGGCAGGCGAGGGGCCAGGCACCTGGCGAGCCGTCCTATAGATGGGGCGATGAGAGGCCCCCAGCCCAGGGACGGCAGGGAGTTGGGGGGCCAGCGGTGGCCAGGAGCCTCGTTTCATCTGAAGGGGGTACTCGTGGCTCAGTGGCAGCTGGTGGTGGCCATGTTGGAATGTGACAGTGACCGTATGCTTAAATGTTATCAAGGGAAACCAGCGTTGCATACTGGTATGGGAAATCTCTTTTTTAAGTGCTGGTAGTTAATTTTTCCCAAGCCCGGTGCAGGCTAAATACAGCGCAGGTGCTGATTTGGCCTGGGCCAGACTGGACTGCTGTGGACTCCACTGATGAGAGGCATATATACTTCCGAGGCACCTGCATTTGTTGAGTTTCCAAATGGCCCCATTTTATTTTCCCCTGTGGTCAGTGCGACCTGTGAGGATGTGAAGGAGCCCAACAAAGGCCCCTCTAGTGTCCCCAGCCCTTGGCTTTCCCTGCACAGGTTCCTGACCTGGTTAAGAGAATGACCGAGAACAAACACCAGACTCTGCTCCTGATGAGGGAGTGGTGGGGGCAAGGCTCCTGTGCCAAGCCTGTCATGGGCCCCTGTGGGCATCCAGGAGCAGTGGAGAGAGTGCTTGCCTCTTATTCTCCATGTGGTCTTCTTCTGCAGGTGCCCAGTCCCCTGGAAGGCAGTGAAGGGGACGGAGACACTGACTGAGGCGATGGGAGCTGCCCACCAGAGTGCCTCTGAGCAGCTCACAGTGTGTGCCCAGATGTGCCACCCCTGTGGGCAGCAAGAAGCTGGGATC
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GCCTCCTTAAAATGTGACTGTCTACCTTTTAAGTGGCAGGTACAGGCAACTTACATAATACATTCGTTCATTCATTTATTCTGTTTGTTTTTTGAGAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAGTCCTCAGCCTCCTGAGTAACTGGGACTACAGGTGTGTGCCACCACACTTCATTTTTGAGTTTGTAGAGATGGGGTCTCATTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAGAAGCCGCTTATATTTAATGTAATGATAGGTGTGGCTGGGCGTGAATCTGTCGTCTTGCTCTCTGTTTTCTTTTCCTTTTTGTTTTGGTGTCATCCCAAGAAAACAGAACTGTTGTCTGCCTGACTGGTCTGCTTGGAGAGAAGTGTTTGAGACAGGGTCTTGTTCTGTTGCCGAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGTAGCATCGACCACCTGGGCTCAAGGGATCCTCCCGCCTCAGCCTATAAGCTGGGACTACAGGCACACGCCACCACAGCCGGCTGAATTTTTATTTTTATTTGTAGAGATGGGGTTTCGCCATGTCGCCCAGGCTGGTCTCAAACTCCTAGGCTCAATCAGTTTACCTGCCTCAGCCTCCCAAAGTGTTGGCATTACAGGCATGAGCTGCTATGCCCAGCCCACAGCCTGATTATTTTAAGATTCATCCGTGCTGTTGTGTATGTCAGCAGTCTGTTCCTTCTCATTGCTGCGGGGTGTTCTGTTCTGTGGGTGTGCCACGGATTGTTTATACAGTTACCTGCTGAAGGACATTGGATGATTTCTAGTTTTGGGCTGTTAGAAGTAAAGCCACTAAGAACATTTACATATGAGTCATAAATAGGATTCAGTAATCCCTGTTGATTTTACCCACTGTTAAGTTTTTGTTTTTATTTTTATATTTTTTATGATGGAGTCTTGTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCTGCCTCCTGGGTTCAAGTGATTCTCCCACCTCAGCCTTCCCAGTAGCTGGGATTACAGGTACACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTAGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCTGCTTTTATTATTTTAAATTCACACATAATTATACATACTTATGTAGAATTATGTGTGATATTTCCAGTCATGTATAAAGATCAAATAGGGCAATTAGCATAATATATCCATCACTCCAAGCATGTATCATTTCTTTGTGTTGGAGACATTCCGTATCTTCTCACTATTGGAAAATTACAATAAATGGTTGTAAATTCAGTCACCTTATAGAGCACTGCACCTGTCCCTCCTGTCCATCGTCCTCCTGTGCCTGTTCCCCAGCCTGTGGCTGCCCCCTCCCCAGAGAAGCCGATGCTTGCTGGAGCTTGGTCGGTGCTCTGGGTAAGGAGACGCTGGGGCTCACGCCGTGCTCAGGCTGCTCCCTGGTCATCCAGGCACTTCTCACCTGCCTTTCTCCTCCCTGACCACCTCCCCCCTAGGACTGAAGCGGGTCACGGGCGGGTTTAACTCCAAGAACAGATGTGATGCCAGGACCTATTGCTACCTGCTGCCCACGTTTGCCTTTGCGCACAAGGACCGGGACGTTCAGGATGAGACCTACCGCCTGAGCGCCGAGACGCTGCAGCAGGTCAACAGGCTCCTGGCCTGCTACAAGGGCACGCACAACTTCCACAATTTCACCTCGCAGAAGGGGCCGCAGGATCCCAGTGCCTGCCGCTACATCCTGGAGATGTACTGCGAGGAACCCTTTGTGCGGGAGGGCCTGGAGTTTGCGGTGATCAGGGTGAAGGGCCAGAGCTTCATGATGCATCAGATCTGGAAGATGGTCGGCCTGGTGGTGGCCATTGTGAAGGGTTATGCCCCTGAGAGCGTGCTGGAGCGCAGCTGGGGCACAGAGAAGGTGGACGTGCCCAAGGCGCCCGGACTCGGCCTGGTCCTGGAGAGGGTGCACTTCGAGAAGTACAACCAGCGCTTTGGCAACGATGGGCTGCATGAGCCGCTGGACTGGGCGCAGGAGGAAGGAAAGGTCGCAGCCTTCAAGGAGGAGCACATCTACCCCACCATCATCGGCACCGAGCGGGACGAACGCTCCATGGCCCAGTGGCTGAGCACCTTGCCCATCCACAACTTCAGTGCCACCGCTCTCACGGCAGGTGGCACGGGCGCCAAGGTAGGGGCACAGTCCCAGCAGTGCTCAGCAGAACACAGGCCCACATTGTTCCCATTGTACAGAGGAGTGAGCTGAGGCACAGAGAAGTGTGTCACTTCCCCGCAAGGCCACACAGCTGCTGCAGGAGCAGGGGCAGGCGGTCTTGAGATGTTCCTTGTCTGCATGCCTGCGCCACCCACTTGCTCCCCCACGGGGTGCTTTTCGACCCTGGGAGGGCTGTCCCAGGGTCAGGCTTGCTGCCAGCACACCTACTATGGACCTGGCATGGAGCATAATCAGCAGCTAGACAGCTGCGGAATGTAGCTTAGAACCGGAACATACAGGATTGTAGGTGCAGAAGCTAAAAGCTAAGTGAATGAAAATGTCATTCTCAGTTCTTCGCTCTGGGGTGAGAGATGTCCCCAAAGCCCGAGTTTGTTCTTTCTTTTTTTTTTGTTGTTTGAGACGAAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTCATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACTGCGTCCGGCCAGCCTGAGTTCTTTCATGGTGGCCCAGTGAGGTTTCAAAGGGTGACATTCCCAGGCAGGGCTCAGGGAGATTCTTCCTGTCATCTAGATATCTGTGAAAAGAGAGTCCTTCCTGCATACCTGGGTGGCAGATTCAACTGTGTGCAGGCCCCAGGGAGGTAAGGTGGGCAGGCGAGGGGCCAGGCACCTGGCGAGCCGTCCTATAGATGGGGCGATGAGAGGCCCCCAGCCCAGGGACGGCAGGGAGTTGGGGGGCCAGCGGTGGCCAGGAGCCTCGTTTCATCTGAAGGGGGTACTCGTGGCTCAGTGGCAGCTGGTGGTGGCCATGTTGGAATGTGACAGTGACCGTATGCTTAAATGTTATCAAGGGAAACCAGCGTTGCATACTGGTATGGGAAATCTCTTTTTTAAGTGCTGGTAGTTAATTTTTCCCAAGCCCGGTGCAGGCTAAATACAGCGCAGGTGCTGATTTGGCCTGGGCCAGACTGGACTGCTGTGGACTCCACTGATGAGAGGCATATATACTTCCGAGGCACCTGCATTTGTTGAGTTTCCAAATGGCCCCATTTTATTTTCCCCTGTGGTCAGTGCGACCTGTGAGGATGTGAAGGAGCCCAACAAAGGCCCCTCTAGTGTCCCCAGCCCTTGGCTTTCCCTGCACAGGTTCCTGACCTGGTTAAGAGAATGACCGAGAACAAACACCAGACTCTGCTCCTGATGAGGGAGTGGTGGGGGCAAGGCTCCTGTGCCAAGCCTGTCATGGGCCCCTGTGGGCATCCAGGAGCAGTGGAGAGAGTGCTTGCCTCTTATTCTCCATGTGGTCTTCTTCTGCAGGTGCCCAGTCCCCTGGAAGGCAGTGAAGGGGACGGAGACACTGACTGAGGCGATGGGAGCTGCCCACCAGAGTGCCTCTGAGCAGCTCACAGTGTGTGCCCAGATGTGCCACCCCTGTGGGCAGCAAGAAGCTGGGATC
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Task1_train_18903
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Here is a genetic alteration in P2RX2 (purinergic receptor P2X 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 41
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GGGCAGGAAGTTTTTATAGATAGAACACAGAAGTGAGATACAAAAAAAAAAAAATCACAATTAGCTTGATTTTGTTACTGCTTGAAATGTTTGCCTTATATGGCATGATCAGATCAGTTAGCAGCCTGTGACTGGCTGAGACCCAGCTATTTGTTCCAAAATATACTCATAGGTTAAGCTTTTAGCTTGTTTCTGTGGTACATTAGGTTGCAGTTTGTTGTTACCTAGAAACTCAAGGCACAGAGGCAGCCTGTTAATTGAGTTAATTTAACAGTTCAAACAAATACTTATGCACCAGTGTTTATAACAGCACTATTCACAGAGTTAGTTTGAAAGCAATCTAAATTCCTTCTTTGGATAGCCTAGACATTTCTCCTGGCCATAAGAAGGGGTGATGCCCTGACACATGCTACAATGTGGATGAACCTTGAAAACATGCTCAGTGAATGAAGCCAGACAGAAAAGGCATTAACCCAGAAACAAATATTGCATTTCCTTGATATGAAATATCCAGAACAGGCAAGTCCATTCACTGAGACAGAAAAGCGACCAGTGGTTGCCAGGGCATGGGAGGAGTGTGGAACGGGTCGTGACTGCTTAATGGATGGGAGTTTTATTTTGGGGTGGGGAAAGTGTTTGGGGACGAAACAGAGGCGGTGGTGGTTGCACAATGTTGTGAATGTCACTGAATTGTTTACTTTAAAATAGTTAATTACATGCTATGCTGATTTTATCATAATAAACTATTTTAAAATTATTTTGTGAAAAACTGTGATGCTTGGGATTTGCTTCAAAATAATGTGGGTGGGGTGGAGGTTCGAAAAGTTACCAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAACTCTGGCTTGCAAAGAAGAAAACGGATCGGCCGTGGATCCCTCTCCAGCTCGAGGGCTGGAGCTGCGGCGGAGGCAGGAGCTGGAAGCGAGGCGTCTGCTGGCAAAGGCGGGAGTGCAGGTTGCGCTCGAAGCCCCGGCAGCCGCGGCAGGAACCGGCCTGGACGGGGTGGGGGGCGCCGCGGAGGCCGGCGGGACTTCCCATGTCTTTCTCCTCGAGCTCGGAAAAAGTTCCCACCCGGGGAATCCCGACCCTCCAACTTCGAGACCGCCGGTTCCGCGCTCGGCCCCCACCTGGACCAAGAGCTGGGGCTGGGCTGCCGCGCCCCCGGCTCTGTCCCCGCGAGGCCCCGCTCCCAGCCCCACCTGGGACACCCGGGACTCCCGGGACACCTGCGGGGCGGGGCGGGGCCGGGGCGAGGCGGGGCGGGCTCGAGGCCGCACCCCGGAGGCGGAGCCGCGAGCTACCCGCCCGCCGCGCGCCCCCCGCTCTCGGTGCGCAGCGGGGCCGACCCTCAGCCCTGCAGCGCCTTCCTGGAGGTGGGGGCCGCCCGCGCCATGGCCGCCGCCCAGCCCAAGTACCCCGCCGGGGCGACCGCCCGGCGCCTGGCCCGGGGCTGCTGGTCCGCCCTCTGGGACTACGAGACGCCCAAGGTGATCGTGGTGAGGAACCGGCGCCTGGGGGTCCTGTACCGCGCCGTGCAGCTGCTCATCCTGCTCTACTTCGTGTGGTGCGCGGGGCGCGGGGTGCGGGGCGCGGGGTGCGGGGCGCAGGGGAGGGGCTGGGATTGGGGGCGCTGGGCTGGAGGCGCGGGGCTGGGGCTGGGGCTGGGACCGGGGGCGCGGGGCAGGGGCTGGGGCTGGGACCGGGGGCGCGGGGCAGGGGCTGGGATTGGGGGCGCGGGGCAGGGGCTGGGACTGGGGGCGTGGGGCAGGGGCTGGGACTCGGGGTGCTGGGCTGGAGGCGCGGGGCTGGGGCTGGGACCAGGGGCGCGGGGCAGGGGCTGGGGCTGGGACCGGGGGCGCGGGGCAGGGGCTGGGGCTGGGACCGAGGGCGCGGGGCAGGCCCCAAGAGCCCCGCAGAGCGGACCCGGGTCGCGGGAGGGCCCCTGCCGTGCCTGCGGGCGGGACTCAGCCTTCCCAGGGTCGCCTCCGGAGCCGGCGCCGCCCCTGCCCGCAGGTACGTATTCATCGTGCAGAAAAGCTACCAGGAGAGCGAGACGGGCCCCGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTCCCTTGCGGGGTCCCTGACTGGGCCGCCTCCACCCTAGAGCATAAGGGTCCACAACGCCACCTGCCTCTCCGACGCCGACTGCGTGGCTGGGGAGCTGGACATGCTGGGAAACGGTCGGTGTGCGCCAGCTGGGGCTGGGCGGGTGGGGCAGGGCTGCGTCCCCGCTAATGCCTCAGTGACCTCTGCCTCCCAGGCCTGAGGACTGGGCGCTGTGTGCCCTATTACCAGGGGCCCTCCAAGACCTGCGAGGTGTTCGGCTGGTGCCCGGTGGAAGATGGGGCCTCTGTCAGGTGCACCTGCGCCCCGGCCTGGGGCCCAGCCTCCCCTCTGATCCTTTTCCCCTGACCAGAGGCCAAACGGGCGGGGCAGGAGTGACAAGATCTGGGGAGGGGTGGGGGCCAATGCCAGGCGGGGGCTTTGCGGGAAGAGGGGACTAAACAACCCTTCTGTGCCTCCTCAGCCAATTTCTGGGTACGATGGCCCCAAATTTCACCATCCTCATCAAGAACAGCATCCACTACCCCAAATTCCACTTCTCCAAGTAAGAGCCGCGGGGTGTGGTGACGGCCCAGCCTGAGGGCTGCCTTCTGGGAATGGGGTATTTGGGGTGCAGGTCTCGCCTCCTGCCGCCTCCTCAGGGGCAACATCGCCGACCGCACAGACGGGTACCTGAAGCGCTGCACGTTCCACGAGGCCTCCGACCTCTACTGCCCCATCTTCAAGCTGGGCTTTATCGTGGAGAAGGCTGGGGAGAGCTTCACAGAGCTCGCACACAAGGCAGGGCAAGCGCAGGCAGGGTGGGGCCAGGGTGGGCTCCCACCTGCACAGAGAGGGCCTGGGGTACAGGGGACCAGTCCCTCCTCCCTCCTGACCAGCTGGCCCCGCTCAGGCAGAGGAAAAGAAATGCGATCAGCGCAACCCATCCGGTGTGGCGCTTGCTGAATTATTGACACTGGCCATGGGGCTGGCTGCTGGCACCCCTTGTGCCTCAGACACTGGACGCCCACCAGTACCCCTGAGCTGCCCCATGGGCCCCTCAGTGCACACCTCACATGCAGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCCCTTCCCTGGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTCCTGACCCCCTTCTCTGGCTCCTTCTTGGCAGGGTGGTGTCATCGGGGTCATTATCAACTGGGACTGTGACCTGGACCTGCCTGCATCGGAGTGCAACCCCAAGTACTCCTTCCGGAGGCTTGACCCCAAGCACGTGCCTGCCTCGTCAGGCTACAACTTCAGGTGCTGTACTTGGGACACCGCTGTCCACACTGGCATAGCTGTGGTGGGGTCCCGAGAGGCCCAATGCCTGTGGGGCAGCCCTGGAGTGCAGAGGACGAGTGGGCACTGGCGTTCCCATTGCAGGTTTGCCAAATACTACAAGATCAATGGCACCACCACCCGCACGCTCATCAAGGCCTACGGGATCCGCATTGACGTCATTGTGCATGGACAGGTGCCTGCACCTGCTGGGGGTGGGTGGCCAGCCCTGCTAGCCTGGGTCTGAGCTCCTCACGCCCCACCCCTCCCTTAAGCCCCATCAGACGCCGTCAGACATTCTGACCACGACCCCCATTCTCCCCAGGCCGGGAAGTTCAGCC
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GGGCAGGAAGTTTTTATAGATAGAACACAGAAGTGAGATACAAAAAAAAAAAAATCACAATTAGCTTGATTTTGTTACTGCTTGAAATGTTTGCCTTATATGGCATGATCAGATCAGTTAGCAGCCTGTGACTGGCTGAGACCCAGCTATTTGTTCCAAAATATACTCATAGGTTAAGCTTTTAGCTTGTTTCTGTGGTACATTAGGTTGCAGTTTGTTGTTACCTAGAAACTCAAGGCACAGAGGCAGCCTGTTAATTGAGTTAATTTAACAGTTCAAACAAATACTTATGCACCAGTGTTTATAACAGCACTATTCACAGAGTTAGTTTGAAAGCAATCTAAATTCCTTCTTTGGATAGCCTAGACATTTCTCCTGGCCATAAGAAGGGGTGATGCCCTGACACATGCTACAATGTGGATGAACCTTGAAAACATGCTCAGTGAATGAAGCCAGACAGAAAAGGCATTAACCCAGAAACAAATATTGCATTTCCTTGATATGAAATATCCAGAACAGGCAAGTCCATTCACTGAGACAGAAAAGCGACCAGTGGTTGCCAGGGCATGGGAGGAGTGTGGAACGGGTCGTGACTGCTTAATGGATGGGAGTTTTATTTTGGGGTGGGGAAAGTGTTTGGGGACGAAACAGAGGCGGTGGTGGTTGCACAATGTTGTGAATGTCACTGAATTGTTTACTTTAAAATAGTTAATTACATGCTATGCTGATTTTATCATAATAAACTATTTTAAAATTATTTTGTGAAAAACTGTGATGCTTGGGATTTGCTTCAAAATAATGTGGGTGGGGTGGAGGTTCGAAAAGTTACCAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAACTCTGGCTTGCAAAGAAGAAAACGGATCGGCCGTGGATCCCTCTCCAGCTCGAGGGCTGGAGCTGCGGCGGAGGCAGGAGCTGGAAGCGAGGCGTCTGCTGGCAAAGGCGGGAGTGCAGGTTGCGCTCGAAGCCCCGGCAGCCGCGGCAGGAACCGGCCTGGACGGGGTGGGGGGCGCCGCGGAGGCCGGCGGGACTTCCCATGTCTTTCTCCTCGAGCTCGGAAAAAGTTCCCACCCGGGGAATCCCGACCCTCCAACTTCGAGACCGCCGGTTCCGCGCTCGGCCCCCACCTGGACCAAGAGCTGGGGCTGGGCTGCCGCGCCCCCGGCTCTGTCCCCGCGAGGCCCCGCTCCCAGCCCCACCTGGGACACCCGGGACTCCCGGGACACCTGCGGGGCGGGGCGGGGCCGGGGCGAGGCGGGGCGGGCTCGAGGCCGCACCCCGGAGGCGGAGCCGCGAGCTACCCGCCCGCCGCGCGCCCCCCGCTCTCGGTGCGCAGCGGGGCCGACCCTCAGCCCTGCAGCGCCTTCCTGGAGGTGGGGGCCGCCCGCGCCATGGCCGCCGCCCAGCCCAAGTACCCCGCCGGGGCGACCGCCCGGCGCCTGGCCCGGGGCTGCTGGTCCGCCCTCTGGGACTACGAGACGCCCAAGGTGATCGTGGTGAGGAACCGGCGCCTGGGGGTCCTGTACCGCGCCGTGCAGCTGCTCATCCTGCTCTACTTCGTGTGGTGCGCGGGGCGCGGGGTGCGGGGCGCGGGGTGCGGGGCGCAGGGGAGGGGCTGGGATTGGGGGCGCTGGGCTGGAGGCGCGGGGCTGGGGCTGGGGCTGGGACCGGGGGCGCGGGGCAGGGGCTGGGGCTGGGACCGGGGGCGCGGGGCAGGGGCTGGGATTGGGGGCGCGGGGCAGGGGCTGGGACTGGGGGCGTGGGGCAGGGGCTGGGACTCGGGGTGCTGGGCTGGAGGCGCGGGGCTGGGGCTGGGACCAGGGGCGCGGGGCAGGGGCTGGGGCTGGGACCGGGGGCGCGGGGCAGGGGCTGGGGCTGGGACCGAGGGCGCGGGGCAGGCCCCAAGAGCCCCGCAGAGCGGACCCGGGTCGCGGGAGGGCCCCTGCCGTGCCTGCGGGCGGGACTCAGCCTTCCCAGGGTCGCCTCCGGAGCCGGCGCCGCCCCTGCCCGCAGGTACTTATTCATCGTGCAGAAAAGCTACCAGGAGAGCGAGACGGGCCCCGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTCCCTTGCGGGGTCCCTGACTGGGCCGCCTCCACCCTAGAGCATAAGGGTCCACAACGCCACCTGCCTCTCCGACGCCGACTGCGTGGCTGGGGAGCTGGACATGCTGGGAAACGGTCGGTGTGCGCCAGCTGGGGCTGGGCGGGTGGGGCAGGGCTGCGTCCCCGCTAATGCCTCAGTGACCTCTGCCTCCCAGGCCTGAGGACTGGGCGCTGTGTGCCCTATTACCAGGGGCCCTCCAAGACCTGCGAGGTGTTCGGCTGGTGCCCGGTGGAAGATGGGGCCTCTGTCAGGTGCACCTGCGCCCCGGCCTGGGGCCCAGCCTCCCCTCTGATCCTTTTCCCCTGACCAGAGGCCAAACGGGCGGGGCAGGAGTGACAAGATCTGGGGAGGGGTGGGGGCCAATGCCAGGCGGGGGCTTTGCGGGAAGAGGGGACTAAACAACCCTTCTGTGCCTCCTCAGCCAATTTCTGGGTACGATGGCCCCAAATTTCACCATCCTCATCAAGAACAGCATCCACTACCCCAAATTCCACTTCTCCAAGTAAGAGCCGCGGGGTGTGGTGACGGCCCAGCCTGAGGGCTGCCTTCTGGGAATGGGGTATTTGGGGTGCAGGTCTCGCCTCCTGCCGCCTCCTCAGGGGCAACATCGCCGACCGCACAGACGGGTACCTGAAGCGCTGCACGTTCCACGAGGCCTCCGACCTCTACTGCCCCATCTTCAAGCTGGGCTTTATCGTGGAGAAGGCTGGGGAGAGCTTCACAGAGCTCGCACACAAGGCAGGGCAAGCGCAGGCAGGGTGGGGCCAGGGTGGGCTCCCACCTGCACAGAGAGGGCCTGGGGTACAGGGGACCAGTCCCTCCTCCCTCCTGACCAGCTGGCCCCGCTCAGGCAGAGGAAAAGAAATGCGATCAGCGCAACCCATCCGGTGTGGCGCTTGCTGAATTATTGACACTGGCCATGGGGCTGGCTGCTGGCACCCCTTGTGCCTCAGACACTGGACGCCCACCAGTACCCCTGAGCTGCCCCATGGGCCCCTCAGTGCACACCTCACATGCAGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCCCTTCCCTGGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTCCTGACCCCCTTCTCTGGCTCCTTCTTGGCAGGGTGGTGTCATCGGGGTCATTATCAACTGGGACTGTGACCTGGACCTGCCTGCATCGGAGTGCAACCCCAAGTACTCCTTCCGGAGGCTTGACCCCAAGCACGTGCCTGCCTCGTCAGGCTACAACTTCAGGTGCTGTACTTGGGACACCGCTGTCCACACTGGCATAGCTGTGGTGGGGTCCCGAGAGGCCCAATGCCTGTGGGGCAGCCCTGGAGTGCAGAGGACGAGTGGGCACTGGCGTTCCCATTGCAGGTTTGCCAAATACTACAAGATCAATGGCACCACCACCCGCACGCTCATCAAGGCCTACGGGATCCGCATTGACGTCATTGTGCATGGACAGGTGCCTGCACCTGCTGGGGGTGGGTGGCCAGCCCTGCTAGCCTGGGTCTGAGCTCCTCACGCCCCACCCCTCCCTTAAGCCCCATCAGACGCCGTCAGACATTCTGACCACGACCCCCATTCTCCCCAGGCCGGGAAGTTCAGCC
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Task1_train_18904
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This sequence change occurs on Chromosome 12, altering P2RX2 (purinergic receptor P2X 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 41
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CGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTCCCTTGCGGGGTCCCTGACTGGGCCGCCTCCACCCTAGAGCATAAGGGTCCACAACGCCACCTGCCTCTCCGACGCCGACTGCGTGGCTGGGGAGCTGGACATGCTGGGAAACGGTCGGTGTGCGCCAGCTGGGGCTGGGCGGGTGGGGCAGGGCTGCGTCCCCGCTAATGCCTCAGTGACCTCTGCCTCCCAGGCCTGAGGACTGGGCGCTGTGTGCCCTATTACCAGGGGCCCTCCAAGACCTGCGAGGTGTTCGGCTGGTGCCCGGTGGAAGATGGGGCCTCTGTCAGGTGCACCTGCGCCCCGGCCTGGGGCCCAGCCTCCCCTCTGATCCTTTTCCCCTGACCAGAGGCCAAACGGGCGGGGCAGGAGTGACAAGATCTGGGGAGGGGTGGGGGCCAATGCCAGGCGGGGGCTTTGCGGGAAGAGGGGACTAAACAACCCTTCTGTGCCTCCTCAGCCAATTTCTGGGTACGATGGCCCCAAATTTCACCATCCTCATCAAGAACAGCATCCACTACCCCAAATTCCACTTCTCCAAGTAAGAGCCGCGGGGTGTGGTGACGGCCCAGCCTGAGGGCTGCCTTCTGGGAATGGGGTATTTGGGGTGCAGGTCTCGCCTCCTGCCGCCTCCTCAGGGGCAACATCGCCGACCGCACAGACGGGTACCTGAAGCGCTGCACGTTCCACGAGGCCTCCGACCTCTACTGCCCCATCTTCAAGCTGGGCTTTATCGTGGAGAAGGCTGGGGAGAGCTTCACAGAGCTCGCACACAAGGCAGGGCAAGCGCAGGCAGGGTGGGGCCAGGGTGGGCTCCCACCTGCACAGAGAGGGCCTGGGGTACAGGGGACCAGTCCCTCCTCCCTCCTGACCAGCTGGCCCCGCTCAGGCAGAGGAAAAGAAATGCGATCAGCGCAACCCATCCGGTGTGGCGCTTGCTGAATTATTGACACTGGCCATGGGGCTGGCTGCTGGCACCCCTTGTGCCTCAGACACTGGACGCCCACCAGTACCCCTGAGCTGCCCCATGGGCCCCTCAGTGCACACCTCACATGCAGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCCCTTCCCTGGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTCCTGACCCCCTTCTCTGGCTCCTTCTTGGCAGGGTGGTGTCATCGGGGTCATTATCAACTGGGACTGTGACCTGGACCTGCCTGCATCGGAGTGCAACCCCAAGTACTCCTTCCGGAGGCTTGACCCCAAGCACGTGCCTGCCTCGTCAGGCTACAACTTCAGGTGCTGTACTTGGGACACCGCTGTCCACACTGGCATAGCTGTGGTGGGGTCCCGAGAGGCCCAATGCCTGTGGGGCAGCCCTGGAGTGCAGAGGACGAGTGGGCACTGGCGTTCCCATTGCAGGTTTGCCAAATACTACAAGATCAATGGCACCACCACCCGCACGCTCATCAAGGCCTACGGGATCCGCATTGACGTCATTGTGCATGGACAGGTGCCTGCACCTGCTGGGGGTGGGTGGCCAGCCCTGCTAGCCTGGGTCTGAGCTCCTCACGCCCCACCCCTCCCTTAAGCCCCATCAGACGCCGTCAGACATTCTGACCACGACCCCCATTCTCCCCAGGCCGGGAAGTTCAGCCTGATTCCCACCATTATTAATCTGGCCACAGCTCTGACTTCCGTCGGGGTGGTAAGGAACCCTCTCTGGGGTCCCAGCGGGTGCGGGGGGTCCACCAGGCCCTTACACACCGGTCTCTGCTGGCCCCAGGGCTCCTTCCTGTGCGACTGGATCTTGCTAACATTCATGAACAAAAACAAGGTCTACAGCCATAAGAAATTTGACAAGGTGTGTACGCCGAGCCACCCCTCAGGTAGCTGGCCTGTGACCCTTGCCCGTGTATTGGGCCAGGCCCCTCCCGAACCCGGCCACCGCTCCGAGGACCAGCACCCCAGCCCTCCATCAGGCCAGGAGGGCCAACAAGGGGCAGAGTGTGGCCCAGCCTTCCCGCCCCTGCGGCCTTGCCCCATCTCTGCCCCTTCTGAGCAGATGGTGGACACTCCTGCCTCCGAGCCTGCCCAAGCCTCCACACCCACAGACCCCAAAGGTTTGGCTCAACTCTGAGCTCCTTTCCATCTCACTGGACTGCAGACCCGGCCTGGTGGGGCCAGAGAGTCCCCAGCTAGGGACCTGCACGTGGACGTGGGCACCTCAGTAGCGGAGCATCTCCACGAAACGGGGCACCACAGGATCCCTGTGCAAGGGCTGGGGGCACGCTCTGGCCCCAGGCTTGTGCCCCACCCTGGCATACAGCCCCTGACACCTCCTCCCCAGCTGGTCCCTACAGGGCTGCTCACTTCCCATCACCTCTCACAGCCACCTGGAACCCAAGCCAGCTGAGCTCTGAGGGGCTCTGCTCCCGGTCTTGGGCCCTGGGAACCCCACCCCACCCCACCCCACAGGCGTTGTAACCTTGAATCTGCCCAGACTCTTCCCTTAGAAGTCACAACATACTCAGTCCAATAAACCTGTGAGCAGAACCTTCTGGCCTCGTTCCTTGGGGAGGAGCATCGTGAGCCTGTCAATATGGGATGTCAGGCCCTGTCGGCCTGGAGCTGGGCTGCACGGTGACCTCTGTCTGGGTCATCTCCCCTCTAAGCAGCCTGCGAGGTGTGCAGGGCACATGTCTGCCTGCCCCATGACACATGGTCCCCACAGCCAGCCAGGCCACGGTCAGGTCTGCCCAGGCTGGGAGTGCACTGGGACCCAGGCCACCTCCTCAGTGCACTTGCTTCTGACAGGGCCACCCCAGACTCCAAACCAAAGCTGGCTCATCTCAAAATGTGGGAGGACAGCATGACTCAGGAAGAGAGAAATAGGAGGGAGGCCGGGACAGCTGCACACAAGGAAAACGAAAGCTCAGACTACAGCAGTGCTCAGACCAGTGTTCATTCCTACTCCATGGGAGGGGGCAGGAATGCCGAGATGGGAAGTCAGGCCAGGCGGGGGTGGAAGGACACCAGCCCGGGAGCCAGCACTAACTGCATCAGGGCCTGGGGGTAATCTGGTTACTGCATCCTCAGATGCTGCAGTGGTTAGACTGGTGCCCACTGGGTGGGGGGAGGAGCCCAGAACAGCGTCATGATGTCACCTGTGCCAGTGACAGATGACATCCTGCCTCTGAAGGGAAACCCAGTCTCAGGAGAGCAACACCACGCCCAAAGGTCAAAGAGCGGAGAAGGGCGGGTAAGACGACCCTGGTCTGACCCTAAAGCCTGAGTTTGGAGGTCTCAGCACAACTCCAGAGTCCTCATCCCAGCGCTGTGTTCAGGTGGCGAGAACATGTCTTCCGTGGGCCCCATTTCCCTTGACTGTGGCCTCCCAGCCTCGGGCATCGGCCTCAGGTCACCCCACGGCCTGCACATGCTGTGTGGCTCACAAATATCCAGCTCATTTTTGGAGAAACTGGCTCTTCTGGTTGAGCCGCTGCTTGGGAACCAGGGCCAGAGCTTCCCGTTTCTGACCCCTCCACCACTACTCAAATGCCCGCAGCTAGCCTCACAGTGAACCCAGGCTGACTGGCGCCCACGGCTGCACCGGGCGACCCCTGGTCCTGCTAGGTGGCCTTCCTGGGGGACGAGCGGCTGTCCCCTGGCCCCATCACTCCTCATTCCTGAGGGTTCTCCAGATTCGCTTCCAGGAATGAAGCCTAGTCAGCCAGCCTCCCTCCTCCC
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CGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTCCCTTGCGGGGTCCCTGACTGGGCCGCCTCCACCCTAGAGCATAAGGGTCCACAACGCCACCTGCCTCTCCGACGCCGACTGCGTGGCTGGGGAGCTGGACATGCTGGGAAACGGTCGGTGTGCGCCAGCTGGGGCTGGGCGGGTGGGGCAGGGCTGCGTCCCCGCTAATGCCTCAGTGACCTCTGCCTCCCAGGCCTGAGGACTGGGCGCTGTGTGCCCTATTACCAGGGGCCCTCCAAGACCTGCGAGGTGTTCGGCTGGTGCCCGGTGGAAGATGGGGCCTCTGTCAGGTGCACCTGCGCCCCGGCCTGGGGCCCAGCCTCCCCTCTGATCCTTTTCCCCTGACCAGAGGCCAAACGGGCGGGGCAGGAGTGACAAGATCTGGGGAGGGGTGGGGGCCAATGCCAGGCGGGGGCTTTGCGGGAAGAGGGGACTAAACAACCCTTCTGTGCCTCCTCAGCCAATTTCTGGGTACGATGGCCCCAAATTTCACCATCCTCATCAAGAACAGCATCCACTACCCCAAATTCCACTTCTCCAAGTAAGAGCCGCGGGGTGTGGTGACGGCCCAGCCTGAGGGCTGCCTTCTGGGAATGGGGTATTTGGGGTGCAGGTCTCGCCTCCTGCCGCCTCCTCAGGGGCAACATCGCCGACCGCACAGACGGGTACCTGAAGCGCTGCACGTTCCACGAGGCCTCCGACCTCTACTGCCCCATCTTCAAGCTGGGCTTTATCGTGGAGAAGGCTGGGGAGAGCTTCACAGAGCTCGCACACAAGGCAGGGCAAGCGCAGGCAGGGTGGGGCCAGGGTGGGCTCCCACCTGCACAGAGAGGGCCTGGGGTACAGGGGACCAGTCCCTCCTCCCTCCTGACCAGCTGGCCCCGCTCAGGCAGAGGAAAAGAAATGCGATCAGCGCAACCCATCCGGTGTGGCGCTTGCTGAATTATTGACACTGGCCATGGGGCTGGCTGCTGGCACCCCTTGTGCCTCAGACACTGGACGCCCACCAGTACCCCTGAGCTGCCCCATGGGCCCCTCAGTGCACACCTCACATGCAGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCCCTTCCCTGGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTCCTGACCCCCTTCTCTGGCTCCTTCTTGGCAGGGTGGTGTCATCGGGGTCATTATCAACTGGGACTGTGACCTGGACCTGCCTGCATCGGAGTGCAACCCCAAGTACTCCTTCCGGAGGCTTGACCCCAAGCACGTGCCTGCCTCGTCAGGCTACAACTTCAGGTGCTGTACTTGGGACACCGCTGTCCACACTGGCATAGCTGTGGTGGGGTCCCGAGAGGCCCAATGCCTGTGGGGCAGCCCTGGAGTGCAGAGGACGAGTGGGCACTGGCGTTCCCATTGCAGGTTTGCCAAATACTACAAGATCAATGGCACCACCACCCGCACGCTCATCAAGGCCTACGGGATCCGCATTGACGTCATTGTGCATGGACAGGTGCCTGCACCTGCTGGGGGTGGGTGGCCAGCCCTGCTAGCCTGGGTCTGAGCTCCTCACGCCCCACCCCTCCCTTAAGCCCCATCAGACGCCGTCAGACATTCTGACCACGACCCCCATTCTCCCCAGGCCGGGAAGTTCAGCCTGATTCCCACCATTATTAATCTGGCCACAGCTCTGACTTCCGTCAGGGTGGTAAGGAACCCTCTCTGGGGTCCCAGCGGGTGCGGGGGGTCCACCAGGCCCTTACACACCGGTCTCTGCTGGCCCCAGGGCTCCTTCCTGTGCGACTGGATCTTGCTAACATTCATGAACAAAAACAAGGTCTACAGCCATAAGAAATTTGACAAGGTGTGTACGCCGAGCCACCCCTCAGGTAGCTGGCCTGTGACCCTTGCCCGTGTATTGGGCCAGGCCCCTCCCGAACCCGGCCACCGCTCCGAGGACCAGCACCCCAGCCCTCCATCAGGCCAGGAGGGCCAACAAGGGGCAGAGTGTGGCCCAGCCTTCCCGCCCCTGCGGCCTTGCCCCATCTCTGCCCCTTCTGAGCAGATGGTGGACACTCCTGCCTCCGAGCCTGCCCAAGCCTCCACACCCACAGACCCCAAAGGTTTGGCTCAACTCTGAGCTCCTTTCCATCTCACTGGACTGCAGACCCGGCCTGGTGGGGCCAGAGAGTCCCCAGCTAGGGACCTGCACGTGGACGTGGGCACCTCAGTAGCGGAGCATCTCCACGAAACGGGGCACCACAGGATCCCTGTGCAAGGGCTGGGGGCACGCTCTGGCCCCAGGCTTGTGCCCCACCCTGGCATACAGCCCCTGACACCTCCTCCCCAGCTGGTCCCTACAGGGCTGCTCACTTCCCATCACCTCTCACAGCCACCTGGAACCCAAGCCAGCTGAGCTCTGAGGGGCTCTGCTCCCGGTCTTGGGCCCTGGGAACCCCACCCCACCCCACCCCACAGGCGTTGTAACCTTGAATCTGCCCAGACTCTTCCCTTAGAAGTCACAACATACTCAGTCCAATAAACCTGTGAGCAGAACCTTCTGGCCTCGTTCCTTGGGGAGGAGCATCGTGAGCCTGTCAATATGGGATGTCAGGCCCTGTCGGCCTGGAGCTGGGCTGCACGGTGACCTCTGTCTGGGTCATCTCCCCTCTAAGCAGCCTGCGAGGTGTGCAGGGCACATGTCTGCCTGCCCCATGACACATGGTCCCCACAGCCAGCCAGGCCACGGTCAGGTCTGCCCAGGCTGGGAGTGCACTGGGACCCAGGCCACCTCCTCAGTGCACTTGCTTCTGACAGGGCCACCCCAGACTCCAAACCAAAGCTGGCTCATCTCAAAATGTGGGAGGACAGCATGACTCAGGAAGAGAGAAATAGGAGGGAGGCCGGGACAGCTGCACACAAGGAAAACGAAAGCTCAGACTACAGCAGTGCTCAGACCAGTGTTCATTCCTACTCCATGGGAGGGGGCAGGAATGCCGAGATGGGAAGTCAGGCCAGGCGGGGGTGGAAGGACACCAGCCCGGGAGCCAGCACTAACTGCATCAGGGCCTGGGGGTAATCTGGTTACTGCATCCTCAGATGCTGCAGTGGTTAGACTGGTGCCCACTGGGTGGGGGGAGGAGCCCAGAACAGCGTCATGATGTCACCTGTGCCAGTGACAGATGACATCCTGCCTCTGAAGGGAAACCCAGTCTCAGGAGAGCAACACCACGCCCAAAGGTCAAAGAGCGGAGAAGGGCGGGTAAGACGACCCTGGTCTGACCCTAAAGCCTGAGTTTGGAGGTCTCAGCACAACTCCAGAGTCCTCATCCCAGCGCTGTGTTCAGGTGGCGAGAACATGTCTTCCGTGGGCCCCATTTCCCTTGACTGTGGCCTCCCAGCCTCGGGCATCGGCCTCAGGTCACCCCACGGCCTGCACATGCTGTGTGGCTCACAAATATCCAGCTCATTTTTGGAGAAACTGGCTCTTCTGGTTGAGCCGCTGCTTGGGAACCAGGGCCAGAGCTTCCCGTTTCTGACCCCTCCACCACTACTCAAATGCCCGCAGCTAGCCTCACAGTGAACCCAGGCTGACTGGCGCCCACGGCTGCACCGGGCGACCCCTGGTCCTGCTAGGTGGCCTTCCTGGGGGACGAGCGGCTGTCCCCTGGCCCCATCACTCCTCATTCCTGAGGGTTCTCCAGATTCGCTTCCAGGAATGAAGCCTAGTCAGCCAGCCTCCCTCCTCCC
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Task1_train_18905
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This variant lies on Chromosome 12 and affects the gene P2RX2 (purinergic receptor P2X 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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CGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTCCCTTGCGGGGTCCCTGACTGGGCCGCCTCCACCCTAGAGCATAAGGGTCCACAACGCCACCTGCCTCTCCGACGCCGACTGCGTGGCTGGGGAGCTGGACATGCTGGGAAACGGTCGGTGTGCGCCAGCTGGGGCTGGGCGGGTGGGGCAGGGCTGCGTCCCCGCTAATGCCTCAGTGACCTCTGCCTCCCAGGCCTGAGGACTGGGCGCTGTGTGCCCTATTACCAGGGGCCCTCCAAGACCTGCGAGGTGTTCGGCTGGTGCCCGGTGGAAGATGGGGCCTCTGTCAGGTGCACCTGCGCCCCGGCCTGGGGCCCAGCCTCCCCTCTGATCCTTTTCCCCTGACCAGAGGCCAAACGGGCGGGGCAGGAGTGACAAGATCTGGGGAGGGGTGGGGGCCAATGCCAGGCGGGGGCTTTGCGGGAAGAGGGGACTAAACAACCCTTCTGTGCCTCCTCAGCCAATTTCTGGGTACGATGGCCCCAAATTTCACCATCCTCATCAAGAACAGCATCCACTACCCCAAATTCCACTTCTCCAAGTAAGAGCCGCGGGGTGTGGTGACGGCCCAGCCTGAGGGCTGCCTTCTGGGAATGGGGTATTTGGGGTGCAGGTCTCGCCTCCTGCCGCCTCCTCAGGGGCAACATCGCCGACCGCACAGACGGGTACCTGAAGCGCTGCACGTTCCACGAGGCCTCCGACCTCTACTGCCCCATCTTCAAGCTGGGCTTTATCGTGGAGAAGGCTGGGGAGAGCTTCACAGAGCTCGCACACAAGGCAGGGCAAGCGCAGGCAGGGTGGGGCCAGGGTGGGCTCCCACCTGCACAGAGAGGGCCTGGGGTACAGGGGACCAGTCCCTCCTCCCTCCTGACCAGCTGGCCCCGCTCAGGCAGAGGAAAAGAAATGCGATCAGCGCAACCCATCCGGTGTGGCGCTTGCTGAATTATTGACACTGGCCATGGGGCTGGCTGCTGGCACCCCTTGTGCCTCAGACACTGGACGCCCACCAGTACCCCTGAGCTGCCCCATGGGCCCCTCAGTGCACACCTCACATGCAGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCCCTTCCCTGGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTCCTGACCCCCTTCTCTGGCTCCTTCTTGGCAGGGTGGTGTCATCGGGGTCATTATCAACTGGGACTGTGACCTGGACCTGCCTGCATCGGAGTGCAACCCCAAGTACTCCTTCCGGAGGCTTGACCCCAAGCACGTGCCTGCCTCGTCAGGCTACAACTTCAGGTGCTGTACTTGGGACACCGCTGTCCACACTGGCATAGCTGTGGTGGGGTCCCGAGAGGCCCAATGCCTGTGGGGCAGCCCTGGAGTGCAGAGGACGAGTGGGCACTGGCGTTCCCATTGCAGGTTTGCCAAATACTACAAGATCAATGGCACCACCACCCGCACGCTCATCAAGGCCTACGGGATCCGCATTGACGTCATTGTGCATGGACAGGTGCCTGCACCTGCTGGGGGTGGGTGGCCAGCCCTGCTAGCCTGGGTCTGAGCTCCTCACGCCCCACCCCTCCCTTAAGCCCCATCAGACGCCGTCAGACATTCTGACCACGACCCCCATTCTCCCCAGGCCGGGAAGTTCAGCCTGATTCCCACCATTATTAATCTGGCCACAGCTCTGACTTCCGTCGGGGTGGTAAGGAACCCTCTCTGGGGTCCCAGCGGGTGCGGGGGGTCCACCAGGCCCTTACACACCGGTCTCTGCTGGCCCCAGGGCTCCTTCCTGTGCGACTGGATCTTGCTAACATTCATGAACAAAAACAAGGTCTACAGCCATAAGAAATTTGACAAGGTGTGTACGCCGAGCCACCCCTCAGGTAGCTGGCCTGTGACCCTTGCCCGTGTATTGGGCCAGGCCCCTCCCGAACCCGGCCACCGCTCCGAGGACCAGCACCCCAGCCCTCCATCAGGCCAGGAGGGCCAACAAGGGGCAGAGTGTGGCCCAGCCTTCCCGCCCCTGCGGCCTTGCCCCATCTCTGCCCCTTCTGAGCAGATGGTGGACACTCCTGCCTCCGAGCCTGCCCAAGCCTCCACACCCACAGACCCCAAAGGTTTGGCTCAACTCTGAGCTCCTTTCCATCTCACTGGACTGCAGACCCGGCCTGGTGGGGCCAGAGAGTCCCCAGCTAGGGACCTGCACGTGGACGTGGGCACCTCAGTAGCGGAGCATCTCCACGAAACGGGGCACCACAGGATCCCTGTGCAAGGGCTGGGGGCACGCTCTGGCCCCAGGCTTGTGCCCCACCCTGGCATACAGCCCCTGACACCTCCTCCCCAGCTGGTCCCTACAGGGCTGCTCACTTCCCATCACCTCTCACAGCCACCTGGAACCCAAGCCAGCTGAGCTCTGAGGGGCTCTGCTCCCGGTCTTGGGCCCTGGGAACCCCACCCCACCCCACCCCACAGGCGTTGTAACCTTGAATCTGCCCAGACTCTTCCCTTAGAAGTCACAACATACTCAGTCCAATAAACCTGTGAGCAGAACCTTCTGGCCTCGTTCCTTGGGGAGGAGCATCGTGAGCCTGTCAATATGGGATGTCAGGCCCTGTCGGCCTGGAGCTGGGCTGCACGGTGACCTCTGTCTGGGTCATCTCCCCTCTAAGCAGCCTGCGAGGTGTGCAGGGCACATGTCTGCCTGCCCCATGACACATGGTCCCCACAGCCAGCCAGGCCACGGTCAGGTCTGCCCAGGCTGGGAGTGCACTGGGACCCAGGCCACCTCCTCAGTGCACTTGCTTCTGACAGGGCCACCCCAGACTCCAAACCAAAGCTGGCTCATCTCAAAATGTGGGAGGACAGCATGACTCAGGAAGAGAGAAATAGGAGGGAGGCCGGGACAGCTGCACACAAGGAAAACGAAAGCTCAGACTACAGCAGTGCTCAGACCAGTGTTCATTCCTACTCCATGGGAGGGGGCAGGAATGCCGAGATGGGAAGTCAGGCCAGGCGGGGGTGGAAGGACACCAGCCCGGGAGCCAGCACTAACTGCATCAGGGCCTGGGGGTAATCTGGTTACTGCATCCTCAGATGCTGCAGTGGTTAGACTGGTGCCCACTGGGTGGGGGGAGGAGCCCAGAACAGCGTCATGATGTCACCTGTGCCAGTGACAGATGACATCCTGCCTCTGAAGGGAAACCCAGTCTCAGGAGAGCAACACCACGCCCAAAGGTCAAAGAGCGGAGAAGGGCGGGTAAGACGACCCTGGTCTGACCCTAAAGCCTGAGTTTGGAGGTCTCAGCACAACTCCAGAGTCCTCATCCCAGCGCTGTGTTCAGGTGGCGAGAACATGTCTTCCGTGGGCCCCATTTCCCTTGACTGTGGCCTCCCAGCCTCGGGCATCGGCCTCAGGTCACCCCACGGCCTGCACATGCTGTGTGGCTCACAAATATCCAGCTCATTTTTGGAGAAACTGGCTCTTCTGGTTGAGCCGCTGCTTGGGAACCAGGGCCAGAGCTTCCCGTTTCTGACCCCTCCACCACTACTCAAATGCCCGCAGCTAGCCTCACAGTGAACCCAGGCTGACTGGCGCCCACGGCTGCACCGGGCGACCCCTGGTCCTGCTAGGTGGCCTTCCTGGGGGACGAGCGGCTGTCCCCTGGCCCCATCACTCCTCATTCCTGAGGGTTCTCCAGATTCGCTTCCAGGAATGAAGCCTAGTCAGCCAGCCTCCCTCCTCCC
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CGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTCCCTTGCGGGGTCCCTGACTGGGCCGCCTCCACCCTAGAGCATAAGGGTCCACAACGCCACCTGCCTCTCCGACGCCGACTGCGTGGCTGGGGAGCTGGACATGCTGGGAAACGGTCGGTGTGCGCCAGCTGGGGCTGGGCGGGTGGGGCAGGGCTGCGTCCCCGCTAATGCCTCAGTGACCTCTGCCTCCCAGGCCTGAGGACTGGGCGCTGTGTGCCCTATTACCAGGGGCCCTCCAAGACCTGCGAGGTGTTCGGCTGGTGCCCGGTGGAAGATGGGGCCTCTGTCAGGTGCACCTGCGCCCCGGCCTGGGGCCCAGCCTCCCCTCTGATCCTTTTCCCCTGACCAGAGGCCAAACGGGCGGGGCAGGAGTGACAAGATCTGGGGAGGGGTGGGGGCCAATGCCAGGCGGGGGCTTTGCGGGAAGAGGGGACTAAACAACCCTTCTGTGCCTCCTCAGCCAATTTCTGGGTACGATGGCCCCAAATTTCACCATCCTCATCAAGAACAGCATCCACTACCCCAAATTCCACTTCTCCAAGTAAGAGCCGCGGGGTGTGGTGACGGCCCAGCCTGAGGGCTGCCTTCTGGGAATGGGGTATTTGGGGTGCAGGTCTCGCCTCCTGCCGCCTCCTCAGGGGCAACATCGCCGACCGCACAGACGGGTACCTGAAGCGCTGCACGTTCCACGAGGCCTCCGACCTCTACTGCCCCATCTTCAAGCTGGGCTTTATCGTGGAGAAGGCTGGGGAGAGCTTCACAGAGCTCGCACACAAGGCAGGGCAAGCGCAGGCAGGGTGGGGCCAGGGTGGGCTCCCACCTGCACAGAGAGGGCCTGGGGTACAGGGGACCAGTCCCTCCTCCCTCCTGACCAGCTGGCCCCGCTCAGGCAGAGGAAAAGAAATGCGATCAGCGCAACCCATCCGGTGTGGCGCTTGCTGAATTATTGACACTGGCCATGGGGCTGGCTGCTGGCACCCCTTGTGCCTCAGACACTGGACGCCCACCAGTACCCCTGAGCTGCCCCATGGGCCCCTCAGTGCACACCTCACATGCAGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCCCTTCCCTGGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTCCTGACCCCCTTCTCTGGCTCCTTCTTGGCAGGGTGGTGTCATCGGGGTCATTATCAACTGGGACTGTGACCTGGACCTGCCTGCATCGGAGTGCAACCCCAAGTACTCCTTCCGGAGGCTTGACCCCAAGCACGTGCCTGCCTCGTCAGGCTACAACTTCAGGTGCTGTACTTGGGACACCGCTGTCCACACTGGCATAGCTGTGGTGGGGTCCCGAGAGGCCCAATGCCTGTGGGGCAGCCCTGGAGTGCAGAGGACGAGTGGGCACTGGCGTTCCCATTGCAGGTTTGCCAAATACTACAAGATCAATGGCACCACCACCCGCACGCTCATCAAGGCCTACGGGATCCGCATTGACGTCATTGTGCATGGACAGGTGCCTGCACCTGCTGGGGGTGGGTGGCCAGCCCTGCTAGCCTGGGTCTGAGCTCCTCACGCCCCACCCCTCCCTTAAGCCCCATCAGACGCCGTCAGACATTCTGACCACGACCCCCATTCTCCCCAGGCCGGGAAGTTCAGCCTGATTCCCACCATTATTAATCTGGCCACAGCTCTGACTTCCGTCCGGGTGGTAAGGAACCCTCTCTGGGGTCCCAGCGGGTGCGGGGGGTCCACCAGGCCCTTACACACCGGTCTCTGCTGGCCCCAGGGCTCCTTCCTGTGCGACTGGATCTTGCTAACATTCATGAACAAAAACAAGGTCTACAGCCATAAGAAATTTGACAAGGTGTGTACGCCGAGCCACCCCTCAGGTAGCTGGCCTGTGACCCTTGCCCGTGTATTGGGCCAGGCCCCTCCCGAACCCGGCCACCGCTCCGAGGACCAGCACCCCAGCCCTCCATCAGGCCAGGAGGGCCAACAAGGGGCAGAGTGTGGCCCAGCCTTCCCGCCCCTGCGGCCTTGCCCCATCTCTGCCCCTTCTGAGCAGATGGTGGACACTCCTGCCTCCGAGCCTGCCCAAGCCTCCACACCCACAGACCCCAAAGGTTTGGCTCAACTCTGAGCTCCTTTCCATCTCACTGGACTGCAGACCCGGCCTGGTGGGGCCAGAGAGTCCCCAGCTAGGGACCTGCACGTGGACGTGGGCACCTCAGTAGCGGAGCATCTCCACGAAACGGGGCACCACAGGATCCCTGTGCAAGGGCTGGGGGCACGCTCTGGCCCCAGGCTTGTGCCCCACCCTGGCATACAGCCCCTGACACCTCCTCCCCAGCTGGTCCCTACAGGGCTGCTCACTTCCCATCACCTCTCACAGCCACCTGGAACCCAAGCCAGCTGAGCTCTGAGGGGCTCTGCTCCCGGTCTTGGGCCCTGGGAACCCCACCCCACCCCACCCCACAGGCGTTGTAACCTTGAATCTGCCCAGACTCTTCCCTTAGAAGTCACAACATACTCAGTCCAATAAACCTGTGAGCAGAACCTTCTGGCCTCGTTCCTTGGGGAGGAGCATCGTGAGCCTGTCAATATGGGATGTCAGGCCCTGTCGGCCTGGAGCTGGGCTGCACGGTGACCTCTGTCTGGGTCATCTCCCCTCTAAGCAGCCTGCGAGGTGTGCAGGGCACATGTCTGCCTGCCCCATGACACATGGTCCCCACAGCCAGCCAGGCCACGGTCAGGTCTGCCCAGGCTGGGAGTGCACTGGGACCCAGGCCACCTCCTCAGTGCACTTGCTTCTGACAGGGCCACCCCAGACTCCAAACCAAAGCTGGCTCATCTCAAAATGTGGGAGGACAGCATGACTCAGGAAGAGAGAAATAGGAGGGAGGCCGGGACAGCTGCACACAAGGAAAACGAAAGCTCAGACTACAGCAGTGCTCAGACCAGTGTTCATTCCTACTCCATGGGAGGGGGCAGGAATGCCGAGATGGGAAGTCAGGCCAGGCGGGGGTGGAAGGACACCAGCCCGGGAGCCAGCACTAACTGCATCAGGGCCTGGGGGTAATCTGGTTACTGCATCCTCAGATGCTGCAGTGGTTAGACTGGTGCCCACTGGGTGGGGGGAGGAGCCCAGAACAGCGTCATGATGTCACCTGTGCCAGTGACAGATGACATCCTGCCTCTGAAGGGAAACCCAGTCTCAGGAGAGCAACACCACGCCCAAAGGTCAAAGAGCGGAGAAGGGCGGGTAAGACGACCCTGGTCTGACCCTAAAGCCTGAGTTTGGAGGTCTCAGCACAACTCCAGAGTCCTCATCCCAGCGCTGTGTTCAGGTGGCGAGAACATGTCTTCCGTGGGCCCCATTTCCCTTGACTGTGGCCTCCCAGCCTCGGGCATCGGCCTCAGGTCACCCCACGGCCTGCACATGCTGTGTGGCTCACAAATATCCAGCTCATTTTTGGAGAAACTGGCTCTTCTGGTTGAGCCGCTGCTTGGGAACCAGGGCCAGAGCTTCCCGTTTCTGACCCCTCCACCACTACTCAAATGCCCGCAGCTAGCCTCACAGTGAACCCAGGCTGACTGGCGCCCACGGCTGCACCGGGCGACCCCTGGTCCTGCTAGGTGGCCTTCCTGGGGGACGAGCGGCTGTCCCCTGGCCCCATCACTCCTCATTCCTGAGGGTTCTCCAGATTCGCTTCCAGGAATGAAGCCTAGTCAGCCAGCCTCCCTCCTCCC
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Task1_train_18906
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Here’s a variant in POLE (DNA polymerase epsilon, catalytic subunit) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Myoepithelial tumor
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CACATATATTGAGAAATTCGAAACAGGTTTATCACTGAAGGAGAAAGAAGTCACTAATAAGAAAGGGGCAGACTCATGTGTTTAAATGCATCCATGCAGACAGACAGACACAGAAATAAACAGTTCTGTGTGCGTGCGTTACTAGAGACATACTTCCTGGCTGCCTCCACTATGAGAGACTGGAAGCTATGACACTCCCAGGAACAGTGAGCACAGCAAGCACCCCATCTCGGGTTTTTACATCATTCTTCTCGGAGAACTGGCTGACTCCAGGTTGGAGCAGGGAAAATACAAGATGAGGCTGGTGGACCTTACAGTACCAAGAAGTAGGAAAGTGCTCCAGAAACAAAGACCAGAAGAGGGCGTGTCCCAAGAACACGCCACAAACTAGGAGGCCCCAGTGGCCCAAGGGGAACACGTGGAGCAGGAAGCCACTCCGGTCCTATGAACAATAACCCTGGGATGTCCACTCTGATCCGCAAATCCACACTGATGTCAATAAGCAGACAAATAAACGAGAACAAATGGAAGAGAAGGATAGCAACGCTTCCCTACAGGATCCCAATTGATACAGTAGAAGGAATGAAGGAAACAGACAATCGCCAGAGAAAAACCACGACAGGAAACCTCAGGCGTAACTGCTGCAGGTGCGGCCCACCAGCAAACACAGCCCATCAGCAACGCTAACACAGTGGGCAGAAGCTTATGGAGCAGCTGTGGATACACTGTCTCGAAGCACCTGCTCCACGATATCTATTTGCTGCTGTGATGGCTCTAATACAGGTCCAGAAACTCTGACAGCCCTCCTCCAGGGACGCTTATATCCTCCCCACTGGGTGTGTATTTACGACTGAAGAGCCGTATGGGAGGGGGCACAGGAGCGCCACAGTAAGGCCTGCAGAAGCCCCTCAGGCAGGAGACTAAGCCGTCCCCACAACACACCCACACTCCCACACCACCACAAACCAACACGATGCGTGTGAGAACGTGGGGAGGGTGTCGCACCTGTGGAGCTCCTCCAAAAACCCAAATCACCTCAGTCTAGTCACGAGAAACAACAGACAACCCCTGATCAAGGGACAGCCAACCATCGCCTGGCCGGCACCACCAGAGGGGGAGGTCGTGACACGAGGACAGACCGGGACAGGACAACTCGGCGCCACGTGGGTCCTTGCTGGGATCCTGGGAGAGAAGAGGGGCTATGGTGGGAAATGGGAAATCCAGGTGAGGCCTGCAGTGCAGTTACTGGGGCACAGACATAGGTTTCTTAGTTTTGACAAGCGCACCATGGTTTATGCGAGGTCAGCATTAGGGGAAGGCAGGTTGAAGGGGATACAGAAATTCTCTGTACTATTTTTGTAATTTCCTGTAAGTTTAAAATTATTTCAAAATAAAAAGTTAAAAGCAAAAAATTCTGGGAGCTATGCTGAAAGAGAAAGGAGTGGAATCACTTGATACCTCTGACCATGGTCTTCAGGCTATAGAAAAGCAATGTGAGCAGTGCTGGGTGCCAGGAAGGCATGCACACTGTGAGGTGCTGCAGAGCCAGTGACATCAGGGCACTGACGCCAGGCCAGCCAGAGCTTCAGGACCAGAGGCCCCAGACTCACCTTGACCATGATGTTCAACATGGCGCCTGGGTAGGAGATGGTCACTTTGGGCTTCTTCACATTGGTCGTCTTGAAGACAAAATTTTCTGGGAAGCTGTTGGGCAGGACGCACCATATACCATCTGTGTCCAGCTCTAAGGGCCTCCTTCAGAGAAAGAGAGGAGCAAGGTCGTGAGTTCCCCTTTCCTTTTCACCCAGTGTGTGGCCTCCAGCCTTCCCTCCTTCCTTCCTGCCCAGTGTGTGGCCTCCAGCCTTCCCTCCTTCCTTCCTGCCCAGTGTGTGGCCTCCAGCCTTCCCTCCTTCCTTCCTGCCCATGCTTGCCCCCAGGACCTGCTCCCAGCCCCACGGCTCCCCTTCTGCACTCACCCAATCTGCTCGATCAGCTCCCGTGCCTGGGTGATGATGTTGGCCCCTGTGAAGCAGACGATGCCAGCCATCTCCATGGAGTACCAGCGAGCCCTGAGAGGACACCACAAACTGGTGGGTGGGGCTGGCATGGCTCCTCCAGGGGGTATCAGAGGCAGTGAGGAGTAGGGAGGAGGAAAGGAGAGATGCGACAGGGACAAGGGAAGCAGCCAAATGTGCGTGCACCAGGACAGAACTAAGGTGGAATCTGGCTCTGCCCGAGGACACCTCTCTGTCCCCACCTTGGTGCCCAGGAAGGATCTGGAAGGGTGCAGTATGTGCCACTGCGTCCAGCCGTTCAGGACTCCAGCCTCAGCAGGACTCTTAATACCACCCAGACCCATTCACGCCTTCTCTACTCTCTTCACACCTCCTCCCAAGCCCCATTCTCACCTCCAGCTTCTCAGAGAAAGCCCAGGCCTAGCTGCCAGGCCCAACCCTCCTCCAGCCTGGGTCCCAGCCCTGCTGTCAGCTGTCCCACCCTCCCCTCCCGGCACCAGCCCCATGCCCCTTGTCAGTTGCTTCTCTGCCCCTCCCGGACACGCAGACATGCTGTGAAGCAACTGCCCGACACTCTGCAAGTCCCTGAGTGAGGATCCACGCTGGGAGACATGAACGCGCTGGAAAATGGCAAGTCGTGTCTCCAGCCCATGATGCAGAGACACATACACCCCACAGCACGCATCACTCATGGACACCCAGACCCTCAAAGTCAGCGTGGCCCCCACTCTCTTCAACCTCCCAGCCCCACCCCAGCCCAAAGCCTTCTCCCTCCAACATTCCTTGAATCAGATGAACGGCCCTCCATGCACAGCAGCCTACACCTGAAGCTGCCCTAAACGTGGACTCATCCATTCCTCCCATAAGCCTCTCCCGGGCCCGGGCCCACCTACCCCTTGCGCATGACATAGCCATAGAAGGAGTTCAGGATGCACTTGTGGGCCAGCTGCAGCGAGTCATACAGCACCTCCATGTTCTTGCAGCGCTTCACCTCAGCCGCGTCGCCCACCTCCACGGCCGCCGAGAGCTTCTTTTTCCACACCTGAGAAGCACATGAACATGGAGCACCTCACAGATTCTTCCATTTCACATTCTACAAAGTCAATAGCCCAGGTTTTTAGTATTTTGAAAATTTTCAAATCTATAGAAAACCTAAAAAACCAGTACAATGAAGAGTGTACATTCTTCTCCTAGACTGGCCAACTGTCAATATTTTGTCACACTTCCTTTATTCTGTCTCTCTGTGTTGACAGAATCATTTGAACATTGTAGATTTCACGGTCTGACATCCTAAACGCTTCAGCACAGTTTCTAGGGAACAAGAGCTACTCGGGGGTGCCTGGTAAAATCAATCAAGAAATGCAGCTAAGACCACAGATGTCTCATCAAATTCCCCACCCAACATGAGAAAAGGTTTTTAAAGGCTGGGTATTTAAGGAACAAAAGCAAATTCCTTAAGATAATTACTGAGTGCCTAGTATGTGCCAGGAACTCCATTGTACTCTGAAGCACGAGACAGTCACTACACTTTTGGTGCTTATTTGATGAGGGAGACAGATGAACAAGTAATTTAGCAGTTGCTTAATTAAAATAAAGTGAGATAGTAAGGCAGCTCCTTAAAAGGTAAATGTAGAATTAGCATATGACCCAACAACTCTACTGCTGGGTACATATCCAAAATCACCAAAAGCAGAGACCTGAAGACGCACTTGCAGCCCATGTTGAAACCAGGATTGCTCGCGACAGCCAAAAGGTGGAAGCAACCCAAGTGCACGTCGGTGTATGAAGGATAGACAAAATGTGACAAATCCACACAATGAAATATTATTCAGCCATTTACAAAAATACAGTACAGATACACGCTGTATGTTGATAAACCTTGAAAACATCATACTAAGACTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTGTGGGAGGCTGGGGTGGATAGATGACCTGAGTTCAGGACTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACCAAACATACAACGATCAGGCGTGATGGTACGCCTGTGGTCCCAGGAACTGGGGAGGCTGAGGCGG
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CACATATATTGAGAAATTCGAAACAGGTTTATCACTGAAGGAGAAAGAAGTCACTAATAAGAAAGGGGCAGACTCATGTGTTTAAATGCATCCATGCAGACAGACAGACACAGAAATAAACAGTTCTGTGTGCGTGCGTTACTAGAGACATACTTCCTGGCTGCCTCCACTATGAGAGACTGGAAGCTATGACACTCCCAGGAACAGTGAGCACAGCAAGCACCCCATCTCGGGTTTTTACATCATTCTTCTCGGAGAACTGGCTGACTCCAGGTTGGAGCAGGGAAAATACAAGATGAGGCTGGTGGACCTTACAGTACCAAGAAGTAGGAAAGTGCTCCAGAAACAAAGACCAGAAGAGGGCGTGTCCCAAGAACACGCCACAAACTAGGAGGCCCCAGTGGCCCAAGGGGAACACGTGGAGCAGGAAGCCACTCCGGTCCTATGAACAATAACCCTGGGATGTCCACTCTGATCCGCAAATCCACACTGATGTCAATAAGCAGACAAATAAACGAGAACAAATGGAAGAGAAGGATAGCAACGCTTCCCTACAGGATCCCAATTGATACAGTAGAAGGAATGAAGGAAACAGACAATCGCCAGAGAAAAACCACGACAGGAAACCTCAGGCGTAACTGCTGCAGGTGCGGCCCACCAGCAAACACAGCCCATCAGCAACGCTAACACAGTGGGCAGAAGCTTATGGAGCAGCTGTGGATACACTGTCTCGAAGCACCTGCTCCACGATATCTATTTGCTGCTGTGATGGCTCTAATACAGGTCCAGAAACTCTGACAGCCCTCCTCCAGGGACGCTTATATCCTCCCCACTGGGTGTGTATTTACGACTGAAGAGCCGTATGGGAGGGGGCACAGGAGCGCCACAGTAAGGCCTGCAGAAGCCCCTCAGGCAGGAGACTAAGCCGTCCCCACAACACACCCACACTCCCACACCACCACAAACCAACACGATGCGTGTGAGAACGTGGGGAGGGTGTCGCACCTGTGGAGCTCCTCCAAAAACCCAAATCACCTCAGTCTAGTCACGAGAAACAACAGACAACCCCTGATCAAGGGACAGCCAACCATCGCCTGGCCGGCACCACCAGAGGGGGAGGTCGTGACACGAGGACAGACCGGGACAGGACAACTCGGCGCCACGTGGGTCCTTGCTGGGATCCTGGGAGAGAAGAGGGGCTATGGTGGGAAATGGGAAATCCAGGTGAGGCCTGCAGTGCAGTTACTGGGGCACAGACATAGGTTTCTTAGTTTTGACAAGCGCACCATGGTTTATGCGAGGTCAGCATTAGGGGAAGGCAGGTTGAAGGGGATACAGAAATTCTCTGTACTATTTTTGTAATTTCCTGTAAGTTTAAAATTATTTCAAAATAAAAAGTTAAAAGCAAAAAATTCTGGGAGCTATGCTGAAAGAGAAAGGAGTGGAATCACTTGATACCTCTGACCATGGTCTTCAGGCTATAGAAAAGCAATGTGAGCAGTGCTGGGTGCCAGGAAGGCATGCACACTGTGAGGTGCTGCAGAGCCAGTGACATCAGGGCACTGACGCCAGGCCAGCCAGAGCTTCAGGACCAGAGGCCCCAGACTCACCTTGACCATGATGTTCAACATGGCGCCTGGGTAGGAGATGGTCACTTTGGGCTTCTTCACATTGGTCGTCTTGAAGACAAAATTTTCTGGGAAGCTGTTGGGCAGGACGCACCATATACCATCTGTGTCCAGCTCTAAGGGCCTCCTTCAGAGAAAGAGAGGAGCAAGGTCGTGAGTTCCCCTTTCCTTTTCACCCAGTGTGTGGCCTCCAGCCTTCCCTCCTTCCTTCCTGCCCAGTGTGTGGCCTCCAGCCTTCCCTCCTTCCTTCCTGCCCAGTGTGTGGCCTCCAGCCTTCCCTCCTTCCTTCCTGCCCATGCTTGCCCCCAGGACCTGCTCCCAGCCCCACGGCTCCCCTTCTGCACTCACCCAATCTGCTCGATCAGCTCCCGTGCCTGGGTGATGATGTTGGCCCCTGTGAAGCAGACGATGCCAGCCATCCCCATGGAGTACCAGCGAGCCCTGAGAGGACACCACAAACTGGTGGGTGGGGCTGGCATGGCTCCTCCAGGGGGTATCAGAGGCAGTGAGGAGTAGGGAGGAGGAAAGGAGAGATGCGACAGGGACAAGGGAAGCAGCCAAATGTGCGTGCACCAGGACAGAACTAAGGTGGAATCTGGCTCTGCCCGAGGACACCTCTCTGTCCCCACCTTGGTGCCCAGGAAGGATCTGGAAGGGTGCAGTATGTGCCACTGCGTCCAGCCGTTCAGGACTCCAGCCTCAGCAGGACTCTTAATACCACCCAGACCCATTCACGCCTTCTCTACTCTCTTCACACCTCCTCCCAAGCCCCATTCTCACCTCCAGCTTCTCAGAGAAAGCCCAGGCCTAGCTGCCAGGCCCAACCCTCCTCCAGCCTGGGTCCCAGCCCTGCTGTCAGCTGTCCCACCCTCCCCTCCCGGCACCAGCCCCATGCCCCTTGTCAGTTGCTTCTCTGCCCCTCCCGGACACGCAGACATGCTGTGAAGCAACTGCCCGACACTCTGCAAGTCCCTGAGTGAGGATCCACGCTGGGAGACATGAACGCGCTGGAAAATGGCAAGTCGTGTCTCCAGCCCATGATGCAGAGACACATACACCCCACAGCACGCATCACTCATGGACACCCAGACCCTCAAAGTCAGCGTGGCCCCCACTCTCTTCAACCTCCCAGCCCCACCCCAGCCCAAAGCCTTCTCCCTCCAACATTCCTTGAATCAGATGAACGGCCCTCCATGCACAGCAGCCTACACCTGAAGCTGCCCTAAACGTGGACTCATCCATTCCTCCCATAAGCCTCTCCCGGGCCCGGGCCCACCTACCCCTTGCGCATGACATAGCCATAGAAGGAGTTCAGGATGCACTTGTGGGCCAGCTGCAGCGAGTCATACAGCACCTCCATGTTCTTGCAGCGCTTCACCTCAGCCGCGTCGCCCACCTCCACGGCCGCCGAGAGCTTCTTTTTCCACACCTGAGAAGCACATGAACATGGAGCACCTCACAGATTCTTCCATTTCACATTCTACAAAGTCAATAGCCCAGGTTTTTAGTATTTTGAAAATTTTCAAATCTATAGAAAACCTAAAAAACCAGTACAATGAAGAGTGTACATTCTTCTCCTAGACTGGCCAACTGTCAATATTTTGTCACACTTCCTTTATTCTGTCTCTCTGTGTTGACAGAATCATTTGAACATTGTAGATTTCACGGTCTGACATCCTAAACGCTTCAGCACAGTTTCTAGGGAACAAGAGCTACTCGGGGGTGCCTGGTAAAATCAATCAAGAAATGCAGCTAAGACCACAGATGTCTCATCAAATTCCCCACCCAACATGAGAAAAGGTTTTTAAAGGCTGGGTATTTAAGGAACAAAAGCAAATTCCTTAAGATAATTACTGAGTGCCTAGTATGTGCCAGGAACTCCATTGTACTCTGAAGCACGAGACAGTCACTACACTTTTGGTGCTTATTTGATGAGGGAGACAGATGAACAAGTAATTTAGCAGTTGCTTAATTAAAATAAAGTGAGATAGTAAGGCAGCTCCTTAAAAGGTAAATGTAGAATTAGCATATGACCCAACAACTCTACTGCTGGGTACATATCCAAAATCACCAAAAGCAGAGACCTGAAGACGCACTTGCAGCCCATGTTGAAACCAGGATTGCTCGCGACAGCCAAAAGGTGGAAGCAACCCAAGTGCACGTCGGTGTATGAAGGATAGACAAAATGTGACAAATCCACACAATGAAATATTATTCAGCCATTTACAAAAATACAGTACAGATACACGCTGTATGTTGATAAACCTTGAAAACATCATACTAAGACTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTGTGGGAGGCTGGGGTGGATAGATGACCTGAGTTCAGGACTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACCAAACATACAACGATCAGGCGTGATGGTACGCCTGTGGTCCCAGGAACTGGGGAGGCTGAGGCGG
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Task1_train_18907
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This is a variant in POLE (DNA polymerase epsilon, catalytic subunit), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGAGATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGACATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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Task1_train_18908
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This variant affects gene POLE (DNA polymerase epsilon, catalytic subunit) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Colorectal cancer, susceptibility to, 12
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGAGATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGACATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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Task1_train_18909
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This variant affects gene POLE (DNA polymerase epsilon, catalytic subunit) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hereditary cancer-predisposing syndrome
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGAGATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGACATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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Task1_train_18910
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This mutation is located in gene POLE (DNA polymerase epsilon, catalytic subunit) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Cystic fibrosis-gastritis-megaloblastic anemia syndrome
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGAGATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGACATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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Task1_train_18911
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This sequence change occurs on Chromosome 12, altering POLE (DNA polymerase epsilon, catalytic subunit). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Polymerase proofreading-related adenomatous polyposis
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGAGATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGACATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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Task1_train_18912
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Here is a mutation in POLE (DNA polymerase epsilon, catalytic subunit) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Familial colorectal cancer type X
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGAGATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGACATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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Task1_train_18913
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This sequence change occurs on Chromosome 12, altering POLE (DNA polymerase epsilon, catalytic subunit). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Neoplasm
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGAGATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCCTAATGCTTTAAAACAGGACACGGGATACATCCCACCAGGACCCACCTTCCATGTTACTGCATTTCAGGAGCAGCTCACACCCCACCTCTCATGAAGCCCTCCGACCTTGTGACAGCATCACACGTCACAACCATGACTGCCCTGTCCCACCAGAGACCCTGTGTCATCCGTCCACAGCACCACACGCAGCAGGTGCACAATAAACGTGCTGCTGAAAGACGTGGTCTGTGAAGAAGGCGCCAAACACAGACTGGCTCTTCCTGCCTCCCTGATGGTTACCTCTTCAAAGTTGGTGACTTGCTCCACAGGCACTTTCTCCTCTTCCTCAAGGGCGTGGCGCAAGGTCTTCTCAACCCGCTGCAGCAGGAAGTCAAAGGCGGCAGGATTCTAGCACAACAGTGAGACGACGGGGTCAGAGGGGAAACACACCCACACTAGCCTGCCTCAGGTTTGACGCTGTGGCTGCACGTGGCAGGTTGTGCCCGAGAAAGCTCCGGAAGGACTCATGTGCACAATCTGCAGTGCACTGCCCTAAAGAAGCCCCCGGGGGGTGCTGGGCCAGAGAAGCCACACCCGGTGAGGGGCCGTGGGACAGGATGGGGAGAAGGGGCTTTATTTCAGCCCCTGCAGCTTCTGGGTCCTACCACAGCACAAGAGTGGGAAGAATCTGAATCCCAGGGAAGAAGCACACCATCCTAAACCGGCAAGGGATATCGCTGCGGAAAACCCCAGACTCGAGGGCCTCCACGTGGCCCCCGACGTAGGTCTCAGAGTCCAGCACGTGTCCGTCGTCCGTCAGCTTATTGAACTCCTGCTCTTGCTTGTTGGGGAAGATGATGTTGGCGTGGAAGGCCTGCACCATCAGCAAGGCCTCACACAGAGTGCCAGAGCCCTTCCGCAGCACCTGCAAGAGAAACCAAGGCTTCCAGCCAAAAGCAACACCAAAGGCCCTGACTTGCAGGCAAAGTCCAGGAACCTAAGCTGAACTTCAGTGTGAAAGGAGAGAAAACCTCGTGGTAAATGGCTGCAAATTCTGCCTCCTGTGGTTTCTTCCTCACACCAGGGCCAGAGAATTCCCAAAGGACATCCCTGACGTCACACACCAGAATTCTACTGCCGCCTCTGGTGCCAGCACTCCTGGGACATCCACCTCCATTCAGCTCCAGTGCATTTGGAATGGGGCAAGGGCTGAGGAGGCCAGGGTGCCGACAGGACAGATAATGCTCACCTCGTCGGGCTCCATGGGAATAATGGTGCACAGAGCAAAGATGAATGGGTGGACGTACTTCATGTACAGGTAGTAAGTGGCGACAGCATCTGACACAGAATACGTGGCCAGAGTCTGAGGAGAGAACGCCAGAGAGCAGGGCCATCAAAAATCAAGAGCCCAGGGTCAAGTGTGAAGCACAGAAAGCAAAGCCTGGCCTGACCAGCCTGCCGCACACACAGTAAGGAGACCGGCACAGGACAAAACACGTGTGTCCCGGAGACACAGCCTGCTGGGTGGAGCGGGCTGGCATACATGCGTGCACACGGCAGCAGGGGGAGCCGGGATGTGGCTCACATGCCTGGGGCTGCTCCGTGGCCATCTGGATGCGTGCACACGGCAGCAGGGGCAGCCGGGATGTGGCTTACGTGCCTGGGGCTGCTCCGTGGCCATCCGGCACATGTCCTCCGGGTCTAGCTCCACGGGATCATAGCCTAGCTTGGCCTTGGCGGCCGCCTTGACATTATGACTGCCCACAGGAAGGTAACTGTCCCTCTTCACCCACCTGGAAGGAGAATGAGAACAGAAGCCAGGATGATTCTAACATGCAGCCCGGGAACCCCTGAGAACTGGCAAAACTGGGCACCACACAGACAGATGCAAGTTCCTAACAGGCACCCAGGAGCCTCACACCAAGGCCCCACATGGTGTAGACACCTTGTGAAAACCCTTCATCAGGATCTAGTTAATCTCACAGACCTATCCACAACACAAGGAAGCACCAGGACTGGTCCTTCCGGCCCTCGCCTTCCTCCCATCCTCAGCAGAGTTTGTGGCCTCTCCGACGGGCGCCCCACCTCCTTGGGCCTCTCCCCAGACCTCAGGTCTGCACCCCTGGGGCCTAGTTCTATCAACCACACTGATCTTCTCTCCTCACACTGTCCCTTCAGCACGGAAACACTCAAGCCCACCCTCCTTTAATAGAAGGCAAGATGTGATCAGATGCCAAGAAGAATAAAAATTTAAAAAATAAATAAAAAATAAAAATTAAGAAAAGAAGGCCCCCCACACTCTACCCGGAACCTGTCTCTACCTCCTCCCTACAGACGCATTCCCTGGAGCAGCTGTCCAGGGGTCATGTCCGGTCTCCACCCCCCGCAGCCTCCACCCTGTGGCCTTCTTCTCTCACTTTACCTCTTGCCTTCAGTTCATCCACTACCCCAGCTTTCACCAAGACCCACCCGCAACCCAGTGAGTCCCAATCTACAGTGCGAGCCCAAACCAAGCCTCATGGTGGTCTTCAGGGCCCCCATATGGGTGGGGCTTCCAGGCTAGCATATCGGTAGCAGGGTCACCTCCTGCCTCAAGCCCCTTCTCTACCCATTCCCTGTCTCCACGGATGGCACAAAAACCCCAGGTGCCAACCCCTCCCTAAGAACCAGCATCCCTGGGCCTCCCCCTGCCCCACATGACAGATCCTGAATCCTCACAACCCTCACTCCCTGCCTTGGATCAGGACTGTCACACCGTCACACGCTAAACCGGCCCCAGCCTCCTGGCCTCCCTCTCCAAGCCAAGTGCTGAGCATCAGAGCTAAACAGAAACGCATTCAGGCTGCAAGCACCCCAGTGGCACTGTGCAGAATACAGAGGCCGTGGAGGCCCCTCCATTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCTTTCCTCCCTCCCTTCCCTTCCTTCCCTTCCAGCCTCCTTCTGTTGGCATTTCCACATCCACCTGTCTTCCCAACCAGTCATGTCAGAGCCCCCGAACGCCGTGACTCTCCGAAGCTCTGAGCTGCCTCCCACCCTAGCTCATATGGAATCTGTGGTTGTCCCGTGAGGCTTGTCCTGTGAGGCAGCCGGGCTGCCACATCCCAACCTTGCCTGGGCAGAGCAGCTCCATGAGGTCCTAGGTCTGGGACCTGTCAGCTGAGTGCGTCTTTCCAGCGGCTTCCCCACCCCAGAGGCTGATGCTCAATGTGCCTGGTCACTGATGAATTGTCAGTCAACAGTCAAAGACAGCACATCCCGGGCCCTGGCAGGGTTGCAGCTGCCATACTCTTGGGTGACCTGAAACGGCCTCTCGGAGGCCACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTAC
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Task1_train_18914
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The gene ANKLE2 (ankyrin repeat and LEM domain containing 2) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Microcephaly 16, primary, autosomal recessive
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GCCCCTACGTATTCTTTAAAAAGATCTTACAGAACAATATTCCATTCTATTCATAGTGTTTAACCAATTATGTACTCATAGGCGTCACCACAAATGGTATCACAGTAATAACAATACTCATAACAGTGTGCAATTTCTGGCATCCCAATTAATACTGAGTTCTCATTTCTTTTTTCCAATGCTAAATCTTCTTTAAAATTACAATTCTTGGGCTGGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTCAGGTGGGAGGACTGCTTGAAGCCAGGAGTTCAAGACCAGACTAAGCAATAAAGCGAGACCCAGTCTCTTAAAAAAAAAAAAAAAAATTTAATTACCTAGGTGTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGCCTGGCAGATCACTTGAGCCCAGGAGTTGGGAGACCAGCCTGGGCAACATGGGGAAACATTGTCTCTACCAAGAATACAAAAAAACTGGCGCGTACTGGCACGTGCCCGTGATCCCAGCGATCCCAAGCTACTCCGGAGGCTGAGGTGGGAGGACTCCTTGAGCCTGGTAGGCAGACATTGCAGTGAGTTGTTGAGATTGCATCACTACACCCCAACCTGGGTGAGAGAGAGACCCCAGTCTCAAAAAAAAAAACCACCAAAAACAACCAATTAGCTAGGCGTGCTGGTGTGTGCCTGTAATCTTAGCACTTTGGGAGACCAAGGTGGGTGGATCGCTTGAGGGCAGTTCGAGAGAAGCGTGGGCAACGTGGCGAAACCCCGCCTCTATAAAAAATACAAAAATTGGCTGGGCGTGATGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGTGGGCAGATCACGACGTCAGGGGTTCGAGACCAGCTTGGCCAAAATCGCGAAACCTTGTCTCTACTAAAAATACAAAAAATAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTTCCCAGCTACTCAGGAGGCTGAGGTTACAGTGAGCTGAGATCGCACCACTGCACTCCAGCCCAGGTGACAGTGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAACAAAAAAAAACCATAAAAATTAGCTGTGCGTGGTGGCGTATGCCTGTGGTCCCAGCTACTCAAGCGGCTGAGGTGGGAGGATCACCTGAGCCAGAAAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCAATGCAGCCTAGGTGGCAGAGTAACACCCTGTTTCAGATGAATGAATAAATTAAAAAAATAAAATGGCCAGGCGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACTGGGAGGGGAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCTGGCCTGGGCAACAGAGTGAGACTTTGTCTCAAAAAATAAATAAATAAATAAAAACAAAATAAAACCACAAATCTTTGATGCTGAAAAGTATTTATACACTCATTGGCCATTTGCATTCATTAACATAAAAGATGTGCAGGTTACACTGCATTTTAAAAAGGCGGAGATGACTAATCAACAAAGTTCCTAACCAACAGCAGCAGCCAGTTAATATTAATATCTCAGTCCAGCATATCTCATAGAATCCAATTTACCTCACAAATTTTAACAGTTCTCATGTTAAATTCACAAATATTTCAGAAAAGTTCTACATAAAAATGTTAACAATGGTTAACTGGGGTGATGAGATGGAGGGGATTGGATTTTTTCCTTCTTAATCTGTAGTTTTCCATTTTCAGACGTCATCCCGCCCCTCCGCGTATGTGCTATCTGTGTGAGGAAATCCTACACACGGTCCCATTACCATTTCTCGCTGGGACGTCCTCATACACTGGACACACCCCATAGTACAGGGGCGGCTCCTTAGACGCAGTCGCTCCAGCTCTGTAGGTGTCGGTGTCACTAGGGGGCACCGAGCAGGTCTTGGATGTCACAGCTTCCTCCTCTGGAGGATTCAGGCCCACACTGTAACCAAAATCTCTGTCTTCAGAAAAACCAGCCTGATCAGTTGGGTTCCCTTCAGCTGGCTTCAAAATCCTTTGTGGGTCCTGGCTGAGAGCTGTGACACCTGCCTCATGGTGGTAGAAAGAAGACAGCCTTCCTCCTTGCTCCAGTAAAGCCTGAGCCAATTTTTTCTCAAAAATGAACCTTGTAGTTGATGTAATGGGTCCACATTTCAATCCGGCTTTGACGATTTCTTCTCTAAGGTCATCTGGATTCAGAAGTTTCAATCGAGCCAACAGAGCATCCATTGTCATTTCACCTAGGCCCAAGACAAAAAAATCAAAGAGTCACAAAATACTAACACCTGCTGAAGCTGGGTGATGGGTACTAGGGTTCATTATATAATGGCATCAGTTTCTGTTTCTTTCATTAAAAACTTTTTTTCTTGGCTGGACGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCACGTCTCTACTGAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCTGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAATTAGCCGAGATCACACCCCTGCACTCCAGCTTAGACAACAAGAGCGAAACTCCAGCTCAAAAAAAAAAAAAGAATTTTTCTTTTTTTTTTCGAGATGGTGTCTCCCTCTGTCGCACAGGCTGGAGTGCAGTGGTGCTATCGCAGCTCACTGCAACCTCTACCTCCTGAGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGGAATCACACCTAGCTAATTTTTGTATTTTTAGGAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGCACTCCCGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTTGGATTACAGGCGTGAGCCTTTTTTCTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGGTTCTCCTGCCTCAAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCATGCCCAGCCCGTTGTATTCTTTGGGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTACATGCCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGTAGGTGGAGGTTGCAGTGAGCCGAAATCACGCCACTGCACTCCAGCCTAGGGGACAAGAGCAAGACCTTGTTTCAAAAAAAAAAAATTACCCGAGCATAGTAGTGCACACCTACAGCCCCAGCTACTCAGGGGGCTGAGGCAGGAGGATCACTTGAGCCTGGGAGGTGGATGCCACCACGAGCTGAGATGGCAACCCTGCACTCCAGCCTGGGTGACAGAATCAGACCCTGTCTCAACAACAACAACAAAAAAAAAGATGGCGGGGGGGAGTAATACATCTGAATTTAAGTTTCTACAGGGTTCTGACTTTTAAAAACATGTTCGTGATTTACATACTCAAATAAGTAAAGCCGGGTGCGGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGACCGAGGTGGGTGGATCACGAGGTCAGCAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTA
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GCCCCTACGTATTCTTTAAAAAGATCTTACAGAACAATATTCCATTCTATTCATAGTGTTTAACCAATTATGTACTCATAGGCGTCACCACAAATGGTATCACAGTAATAACAATACTCATAACAGTGTGCAATTTCTGGCATCCCAATTAATACTGAGTTCTCATTTCTTTTTTCCAATGCTAAATCTTCTTTAAAATTACAATTCTTGGGCTGGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTCAGGTGGGAGGACTGCTTGAAGCCAGGAGTTCAAGACCAGACTAAGCAATAAAGCGAGACCCAGTCTCTTAAAAAAAAAAAAAAAAATTTAATTACCTAGGTGTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGCCTGGCAGATCACTTGAGCCCAGGAGTTGGGAGACCAGCCTGGGCAACATGGGGAAACATTGTCTCTACCAAGAATACAAAAAAACTGGCGCGTACTGGCACGTGCCCGTGATCCCAGCGATCCCAAGCTACTCCGGAGGCTGAGGTGGGAGGACTCCTTGAGCCTGGTAGGCAGACATTGCAGTGAGTTGTTGAGATTGCATCACTACACCCCAACCTGGGTGAGAGAGAGACCCCAGTCTCAAAAAAAAAAACCACCAAAAACAACCAATTAGCTAGGCGTGCTGGTGTGTGCCTGTAATCTTAGCACTTTGGGAGACCAAGGTGGGTGGATCGCTTGAGGGCAGTTCGAGAGAAGCGTGGGCAACGTGGCGAAACCCCGCCTCTATAAAAAATACAAAAATTGGCTGGGCGTGATGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGTGGGCAGATCACGACGTCAGGGGTTCGAGACCAGCTTGGCCAAAATCGCGAAACCTTGTCTCTACTAAAAATACAAAAAATAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTTCCCAGCTACTCAGGAGGCTGAGGTTACAGTGAGCTGAGATCGCACCACTGCACTCCAGCCCAGGTGACAGTGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAACAAAAAAAAACCATAAAAATTAGCTGTGCGTGGTGGCGTATGCCTGTGGTCCCAGCTACTCAAGCGGCTGAGGTGGGAGGATCACCTGAGCCAGAAAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCAATGCAGCCTAGGTGGCAGAGTAACACCCTGTTTCAGATGAATGAATAAATTAAAAAAATAAAATGGCCAGGCGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACTGGGAGGGGAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCTGGCCTGGGCAACAGAGTGAGACTTTGTCTCAAAAAATAAATAAATAAATAAAAACAAAATAAAACCACAAATCTTTGATGCTGAAAAGTATTTATACACTCATTGGCCATTTGCATTCATTAACATAAAAGATGTGCAGGTTACACTGCATTTTAAAAAGGCGGAGATGACTAATCAACAAAGTTCCTAACCAACAGCAGCAGCCAGTTAATATTAATATCTCAGTCCAGCATATCTCATAGAATCCAATTTACCTCACAAATTTTAACAGTTCTCATGTTAAATTCACAAATATTTCAGAAAAGTTCTACATAAAAATGTTAACAATGGTTAACTGGGGTGATGAGATGGAGGGGATTGGATTTTTTCCTTCTTAATCTGTAGTTTTCCATTTTCAGACGTCATCCCGCCCCTCCGCGTATGTGCTATCTGTGTGAGGAAATCCTACACACGGTCCCATTACCATTTCTCGCTGGGACGTCCTCATACACTGGACACACCCAATAGTACAGGGGCGGCTCCTTAGACGCAGTCGCTCCAGCTCTGTAGGTGTCGGTGTCACTAGGGGGCACCGAGCAGGTCTTGGATGTCACAGCTTCCTCCTCTGGAGGATTCAGGCCCACACTGTAACCAAAATCTCTGTCTTCAGAAAAACCAGCCTGATCAGTTGGGTTCCCTTCAGCTGGCTTCAAAATCCTTTGTGGGTCCTGGCTGAGAGCTGTGACACCTGCCTCATGGTGGTAGAAAGAAGACAGCCTTCCTCCTTGCTCCAGTAAAGCCTGAGCCAATTTTTTCTCAAAAATGAACCTTGTAGTTGATGTAATGGGTCCACATTTCAATCCGGCTTTGACGATTTCTTCTCTAAGGTCATCTGGATTCAGAAGTTTCAATCGAGCCAACAGAGCATCCATTGTCATTTCACCTAGGCCCAAGACAAAAAAATCAAAGAGTCACAAAATACTAACACCTGCTGAAGCTGGGTGATGGGTACTAGGGTTCATTATATAATGGCATCAGTTTCTGTTTCTTTCATTAAAAACTTTTTTTCTTGGCTGGACGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCACGTCTCTACTGAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCTGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAATTAGCCGAGATCACACCCCTGCACTCCAGCTTAGACAACAAGAGCGAAACTCCAGCTCAAAAAAAAAAAAAGAATTTTTCTTTTTTTTTTCGAGATGGTGTCTCCCTCTGTCGCACAGGCTGGAGTGCAGTGGTGCTATCGCAGCTCACTGCAACCTCTACCTCCTGAGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGGAATCACACCTAGCTAATTTTTGTATTTTTAGGAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGCACTCCCGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTTGGATTACAGGCGTGAGCCTTTTTTCTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGGTTCTCCTGCCTCAAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCATGCCCAGCCCGTTGTATTCTTTGGGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTACATGCCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGTAGGTGGAGGTTGCAGTGAGCCGAAATCACGCCACTGCACTCCAGCCTAGGGGACAAGAGCAAGACCTTGTTTCAAAAAAAAAAAATTACCCGAGCATAGTAGTGCACACCTACAGCCCCAGCTACTCAGGGGGCTGAGGCAGGAGGATCACTTGAGCCTGGGAGGTGGATGCCACCACGAGCTGAGATGGCAACCCTGCACTCCAGCCTGGGTGACAGAATCAGACCCTGTCTCAACAACAACAACAAAAAAAAAGATGGCGGGGGGGAGTAATACATCTGAATTTAAGTTTCTACAGGGTTCTGACTTTTAAAAACATGTTCGTGATTTACATACTCAAATAAGTAAAGCCGGGTGCGGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGACCGAGGTGGGTGGATCACGAGGTCAGCAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTA
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Task1_train_18915
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The variant affects gene GJA3 (gap junction protein alpha 3), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Cataract 14 multiple types
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CTGCCGTCTTCCAGCCATGCCCACACACATAAATAGCCTTCCCTGTCAGGACAGCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACA
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CTGCCGTCTTCCAGCCATGCCCACACACATAAATAGCCTTCCCTGTCAGGACAGCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGATGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACA
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Task1_train_18916
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A genomic change on Chromosome 13 affects GJA3 (gap junction protein alpha 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Cataract 14 multiple types
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CTTCCAGCCATGCCCACACACATAAATAGCCTTCCCTGTCAGGACAGCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATG
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CTTCCAGCCATGCCCACACACATAAATAGCCTTCCCTGTCAGGACAGCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATTAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATG
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Task1_train_18917
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An alteration has been detected in GJA3 (gap junction protein alpha 3) on Chromosome 13. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Cataract 14 multiple types
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GCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGAT
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GCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGATGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGAT
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Task1_train_18918
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Given this variant in gene GJA3 (gap junction protein alpha 3) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Cataract 14 multiple types
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GCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGAT
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GCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGGTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGAT
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Task1_train_18919
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This variant affects the gene GJA3 (gap junction protein alpha 3) found on Chromosome 13. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Cataract 14 multiple types
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CTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCT
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CTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGAGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCT
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Task1_train_18920
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This mutation occurs in GJA3 (gap junction protein alpha 3) on Chromosome 13. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Cataract 14 multiple types
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AAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACAC
|
AAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTGGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACAC
|
Task1_train_18921
|
A genetic alteration is present in GJA3 (gap junction protein alpha 3) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Cataract 14 multiple types
|
TGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCG
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TGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCTGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCG
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Task1_train_18922
|
A mutation found in GJA3 (gap junction protein alpha 3) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Cataract 14 multiple types
|
ATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGG
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ATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCATGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGG
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Task1_train_18923
|
A mutation found in GJA3 (gap junction protein alpha 3) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Cataract 14 multiple types
|
AAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGA
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AAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGTGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGA
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Task1_train_18924
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A variant was discovered in gene GJA3 (gap junction protein alpha 3), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Cataract 14 multiple types
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AGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTAC
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AGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGCTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTAC
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Task1_train_18925
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This is a variant in GJA3 (gap junction protein alpha 3), located on Chromosome 13. Is this mutation a likely cause of disease or not?
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Pathogenic; Cataract 14 multiple types
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ACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTACTCCAGCCTGGATGACAGAGCAACAGTCCATCTCAAAAAAATTTTTTTTTAAATATTAA
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ACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACATGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTACTCCAGCCTGGATGACAGAGCAACAGTCCATCTCAAAAAAATTTTTTTTTAAATATTAA
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Task1_train_18926
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A mutation in GJA3 (gap junction protein alpha 3), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Cataract 14 multiple types
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CTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTACTCCAGCCTGGATGACAGAGCAACAGTCCATCTCAAAAAAATTTTTTTTTAAATATTAATTTTTATGAATTGGTTCAAAGGCAAATCAACAAAAGAAAACTCTACTCATTAACAATCTAAAGAAACAGACGAA
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CTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCATGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTACTCCAGCCTGGATGACAGAGCAACAGTCCATCTCAAAAAAATTTTTTTTTAAATATTAATTTTTATGAATTGGTTCAAAGGCAAATCAACAAAAGAAAACTCTACTCATTAACAATCTAAAGAAACAGACGAA
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Task1_train_18927
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With a mutation on Chromosome 13 in gene GJA3 (gap junction protein alpha 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Congenital cataracts-facial dysmorphism-neuropathy syndrome
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CTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTACTCCAGCCTGGATGACAGAGCAACAGTCCATCTCAAAAAAATTTTTTTTTAAATATTAATTTTTATGAATTGGTTCAAAGGCAAATCAACAAAAGAAAACTCTACTCATTAACAATCTAAAGAAACAGACGAA
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CTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCATGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTACTCCAGCCTGGATGACAGAGCAACAGTCCATCTCAAAAAAATTTTTTTTTAAATATTAATTTTTATGAATTGGTTCAAAGGCAAATCAACAAAAGAAAACTCTACTCATTAACAATCTAAAGAAACAGACGAA
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Task1_train_18928
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The following genetic variant occurs in GJA3 (gap junction protein alpha 3) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Cataract 14 multiple types
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ATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGCCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTACTCCAGCCTGGATGACAGAGCAACAGTCCATCTCAAAAAAATTTTTTTTTAAATATTAATTTTTATGAATTGGTTCAAAGGCAAATCAACAAAAGAAAACTCTACTCATTAACAATCTAAAGAAACAGACGAATGTTAACTCTCCCTTAGAACAAACTCCCAACATTCTGCTTGGACCCCTGGA
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ATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAGAGCTAAGACCCTCTGGGCCGCCCAGAGGCTCTGGAGAGCTTAGGAATAGCAAACCCAATTGCCCAGGAGCTAAAGGGACTGCAGGATACCTGTTGCTTTACCACTACAGAACAGTTACCCCCAGAGACAGCCCTCAGCGACCAGATTTCTGGGCTGCTGTGAAGATCTTAAAGGCCCACAACCCTTGTCCCCGCCACCCCCAAACTCAGAAAGTGGGAGTTATCCCCACTGTAACTCACAGTGCTAAGAACAGCAAGCATTGAACACGGAAACCTGATCTCTCCTCCATCGTCCACCTCCTGGGACTCCAGTCGCTCCCACCTCCTGGGACTTTCAGGTTCTATCTGCTGGTGGGAAGTGCACTTTGGTTTTGGTTTCTAAGAAAAAGATCACTACACAGCTGTCTGGAGGCAGGCACCCGGGCACTAGATGGCCAAGTCCTCCGGTCTGGCCCGCCCGCTGCTGGCCCTGCTGGCCTTGCTGGCCCGACCTGGGTCTCCGAGGGGCAAGGGCGGCTGGTGCATCTGGGCCGCGGTGGTCACGGCCTGCTCCTCCTCCTCGGGGGTCCCTGCCAGGGCGCTCCCCTCCAGACTGCTGCCGCTCCCATCCAGCAGCAGGGGCGCCGCGCCCGCCTCAGCCTCGTGCGCGAGTGGCGGGGAGCTGCTGCCGACGGGGCTGGGGGCTGCAGGCGTGGACGCTGCCGGGTAAGCCTTGAGCGCCGGGGGCTGCCGCTCGGCCGCCTGGTTGGCCCAGTTCTGCTCAGTCATCAGCAGGTGGTGGTGGCCGTTGTAGAGCTTGGCGGACTGGCCCTTTCCGCGCGCCTCGGTCAGGGCTAGCAGTTTGAAGTCCGCGGCTGGTGGCGGGGCCCCGGGGTAGCCCACGGCGCGGGCCTGTCCCAGGGGCGCAGCGGTGTGCGCATAGTAGGGTGGGAACCCGATGGCAACGGCGGGCGGCCGGGAGCTGGGGGGCAGGGGCGGGGGATCGGCTGTCCCCAGCGGGGCCTCGGAGGCGTCCGGGCCGAGGCGGCTGGTCACGCCCTGCTTGAGCTTCTTCCAGCCCAGGTGGTAGATCTCCAGCATGTTGAGCAGCAGGGACGCGCAGGCCACCGCCAGCATGAAGATGATGAAGATGGTCTTCTCCGTGGGCCTGGAGATGAAGCAGTCCACCGTGTTGGGGCAGGGCCAGCGGTCGCAGCGGTAGAGCGGCTTCAGCTCGAAGCCGTACAGAAAGTACTGGCCGGCGATGAAGCCCACCTCGAACAGCGTCTTGAAGATGATGTTGAAGACGTAGGTCCGCAGCAGCGCCCCGGCCATGCGCACCCTGCCGCGGTCGTCCCGCGACGAGGGATTGTCCTGCGGTGGCTCCTTGGGGCTGGGGCTCTCTCTCTTCAGCTGCTCCTCCTCCTCCCTCTCTTTCTTCTTCTCTTCCATGCGCACGATGTGCAGCACGTGGCCCAGGTAGATGAGGGTGGGCGTGGACACGAAGATGATCTGCAGCGCCCAGAAGCGGATGTGGGAGATGGGGAAGGCCCTGTCGTAGCAGACGTTCTCGCAGCCCGGCTGCTGGGTGTTGCAGGTGAAGTCTGACTGCTCATCGCCCCACACGTCCTCCGCCGCGGCCCCCAGCACCAAGATGCGGAAGATGAACAGCACGGTCAGCCAAACCTTGCCGATGACCGTGGAGTGCTCCTGTGCATTTTCTAAGAGTCTTCCCAGAAAGCTCCAGTCGTCCATTGCTTCAGATTCCTAACCTGTAAGAGGAAAATGCTCATGAACACCGGGCTGCAACGGCTGAGTGCCGGGTCCGCACCCATGGGCGGCGGCAGCGGCCTGGATGGTACTGGGATGGGGCTGATGGGCAGCTTCTCCACAGGACAGGCATCGCAGCTCCCCAGGACCTGGACGAGCAGGCACTACACAAGTGCAAGCGTCCATGAGGAACCACAGGTTAAACTCTTCATTTCAGAGAGGAGGAAGCCAGAGCCAGAAGAGAAAATGCCCTCCTCTGGCCTCCAGACTGCTCAAGCCCTCTCCCTGAGGCTGACCCTACAGGAGCTCTGGGGCTCTGCGGCCCCTTAGGCCACTTCTGAATCATGACCTTTCTGTTCAGGTGGGATTAGAGCAACCTCTTCCCAAATTGCTGCCATCCCCATGCCCATGCCACCTTCAGAACTTCTGCCATGTTAATCTGATACCTCTTCTACTATTTGCTTTTTCTGTCTTCACATCAACTCTTTATGCTTAAATTTATCTCAACTAGGAAAGTTTACATTACTACTGTCAATGGAAAATCGGCACTAATACCTTCAATGGATGGTAGCTTTAAGAGTAAATATATTCCAACTCAGCCAGCTTTATTTTGGAAGTAAGGAAATAAAGACTTACTCCCCTTTTTTAAAAAAGAATAAATTCCTTGATGACAATGAAGTTGATACAGTCTATGGGATATTGCTTGCCAAAAGCTCTGGATGTAAGCTCTCTTGTTACAAAGAGGAAGATGAGGAGTATTGGAGAGGTGTTAAACAAACTAGTATCAAACCAAGCCCCTCTCCAAGGCCACTATTAGGATAGAAACAGAATTGATAAAGGAATGATCTTCTCACACATGATTCAGCATCCACTGACGACCACCTGAAATCACCTCACCTGACCGAATGCCCACACTGGATTCTAGGCAGAGCTGAAGGGGTGCTGGATGGGGGCAGAGGAAGCACTTGGGGTGAACCGAGCTTGAGGATCCTGTGAGGACCAGGGGCCAGCTCAGCAGAGCCGGGCCTTCAGTGGCCGTCACTCAACAGCACTCGTGGGTACCCAGATGTCTGAGGGTAGAAACAGCACGCCCAGACTCAGTCAGGGTGCAAGTGAGTGGAGCCCAACCAGTGTGGGAGATAGCATGGATCCTCTGGGTCAGAGTGCCCATGGGTGTTGGGCAGGGCTCACCAGCCCTACCTGCCCCAGAAGTGTGACTCCGAAGAAGGCAGCCCAAGGAGGGGGTGGTACCAGCTGCAGGCCCACCCCCAGGCCCAATTCAGCAAGTGTTAGGTAAACATCCCCAGGCAGGCAGCTTCCTCTCTCAGCCTGTGTACAACAGGGACCACGGTCATACACAGGGATGGAGGGAGGTGAGACTGCCAGCCTGCTAAGAAAGCAGCAGTGCCCACAGACACGGGATGAAGATGAGATGGCATCCCGTGTCGCTGCTGCCCCAACAGGCTGGATGCTGGGAATGGGAACAGAAAAACAGCTCCATGCTTTGCAGTGAGGAAAGCAGTCTCAGCTGTGAGGACACAGTCTCCAGTGGAACCAAAGAAAACACTTGTCATTTTCAATTTTAAAATATTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGAAGGATCACTTGAGGTCAGGAGTTCAAGAATAGCCTGGCCCACATGGTGAAACCTCATCTCTACTAATAATACATAAGTTAGCCAGGCATGGTGGAGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGCAGGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGGGCTGAGATCATGCCACTGTACTCCAGCCTGGATGACAGAGCAACAGTCCATCTCAAAAAAATTTTTTTTTAAATATTAATTTTTATGAATTGGTTCAAAGGCAAATCAACAAAAGAAAACTCTACTCATTAACAATCTAAAGAAACAGACGAATGTTAACTCTCCCTTAGAACAAACTCCCAACATTCTGCTTGGACCCCTGGA
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Task1_train_18929
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A variant has been detected on Chromosome 13 in GJB2 (gap junction protein beta 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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TTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAG
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TTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACATTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAG
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Task1_train_18930
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A variant was discovered on Chromosome 13, affecting GJB2 (gap junction protein beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Palmoplantar keratoderma-deafness syndrome
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18931
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A variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Mutilating keratoderma
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18932
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A mutation on Chromosome 13 affecting GJB2 (gap junction protein beta 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Ichthyosis, hystrix-like, with hearing loss
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18933
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A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless?
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Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18934
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The variant affects gene GJB2 (gap junction protein beta 2), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Knuckle pads, deafness AND leukonychia syndrome
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18935
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Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18936
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Given this variant in gene GJB2 (gap junction protein beta 2) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18937
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Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18938
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This is a variant in GJB2 (gap junction protein beta 2), located on Chromosome 13. Is this mutation a likely cause of disease or not?
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Pathogenic; Mutilating keratoderma
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCAGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAA
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Task1_train_18939
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This alteration occurs within gene GJB2 (gap junction protein beta 2) located on Chromosome 13. Is it associated with a disease or is it a benign variant?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A
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TAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGT
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TAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTTCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGT
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Task1_train_18940
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The gene GJB2 (gap junction protein beta 2) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Nonsyndromic genetic hearing loss
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ACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGAT
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ACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGGCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGAT
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Task1_train_18941
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This variant lies on Chromosome 13 and affects the gene GJB2 (gap junction protein beta 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18942
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Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Palmoplantar keratoderma-deafness syndrome
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18943
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The gene GJB2 (gap junction protein beta 2) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18944
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Chromosome 13 houses a mutation in gene GJB2 (gap junction protein beta 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Knuckle pads, deafness AND leukonychia syndrome
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18945
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Here is a mutation in GJB2 (gap junction protein beta 2) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18946
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Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; X-linked mixed hearing loss with perilymphatic gusher
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18947
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This sequence change occurs on Chromosome 13, altering GJB2 (gap junction protein beta 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18948
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This gene mutation involves GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Mutilating keratoderma
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18949
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Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Ichthyosis, hystrix-like, with hearing loss
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18950
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This sequence change occurs on Chromosome 13, altering GJB2 (gap junction protein beta 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Rare genetic deafness
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGTACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACT
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Task1_train_18951
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A change on Chromosome 13 affects gene GJB2 (gap junction protein beta 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18952
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This is a variant in GJB2 (gap junction protein beta 2), located on Chromosome 13. Is this mutation a likely cause of disease or not?
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Pathogenic; Hearing impairment
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18953
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A variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Palmoplantar keratoderma-deafness syndrome
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18954
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An alteration has been detected in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Knuckle pads, deafness AND leukonychia syndrome
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18955
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This mutation is located in gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Mutilating keratoderma
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18956
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A mutation found in GJB2 (gap junction protein beta 2) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Ichthyosis, hystrix-like, with hearing loss
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18957
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This genomic variant is located on Chromosome 13, within the GJB2 (gap junction protein beta 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Palmoplantar keratoderma-deafness syndrome
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18958
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With a mutation on Chromosome 13 in gene GJB2 (gap junction protein beta 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Knuckle pads, deafness AND leukonychia syndrome
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18959
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This gene mutation involves GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18960
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Assess the clinical impact of this variant on gene GJB2 (gap junction protein beta 2), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Mutilating keratoderma
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18961
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A variant was discovered in gene GJB2 (gap junction protein beta 2), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18962
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Located on Chromosome 13, this mutation impacts GJB2 (gap junction protein beta 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18963
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A genomic change on Chromosome 13 affects GJB2 (gap junction protein beta 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Rare genetic deafness
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18964
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This mutation is located in gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Nonsyndromic genetic hearing loss
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18965
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Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCAGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACC
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Task1_train_18966
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Gene GJB2 (gap junction protein beta 2) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Rare genetic deafness
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TGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCG
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TGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGTAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCG
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Task1_train_18967
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Mutation context: Chromosome 13, Gene GJB2 (gap junction protein beta 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
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AGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTAT
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AGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCACTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTAT
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Task1_train_18968
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Consider a variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2). Determine its clinical classification and disease relevance.
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Pathogenic; not specified
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAAGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18969
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Located on Chromosome 13, this mutation impacts GJB2 (gap junction protein beta 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAAGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18970
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This genomic variant is located on Chromosome 13, within the GJB2 (gap junction protein beta 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Rare genetic deafness
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18971
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This alteration in GJB2 (gap junction protein beta 2) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Ichthyosis, hystrix-like, with hearing loss
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18972
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Located on Chromosome 13, this mutation impacts GJB2 (gap junction protein beta 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18973
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A mutation on Chromosome 13 affecting GJB2 (gap junction protein beta 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; X-linked mixed hearing loss with perilymphatic gusher
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18974
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A mutation in GJB2 (gap junction protein beta 2), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18975
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This gene mutation involves GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Palmoplantar keratoderma-deafness syndrome
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18976
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Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Knuckle pads, deafness AND leukonychia syndrome
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18977
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A genomic change on Chromosome 13 affects GJB2 (gap junction protein beta 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Mutilating keratoderma
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18978
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A mutation found in GJB2 (gap junction protein beta 2) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18979
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This variant affects gene GJB2 (gap junction protein beta 2) located on Chromosome 13. Evaluate its biological effect and specify any disease association.
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Pathogenic; GJB2-related disorder
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18980
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A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless?
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Pathogenic; Nonsyndromic genetic hearing loss
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18981
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Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18982
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An alteration has been detected in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Hearing impairment
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACAGGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18983
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A variant was discovered in gene GJB2 (gap junction protein beta 2), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; GJB2-related disorder
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACATGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18984
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Mutation context: Chromosome 13, Gene GJB2 (gap junction protein beta 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACATGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18985
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The gene GJB2 (gap junction protein beta 2) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACATGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18986
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Here is a genetic alteration in GJB2 (gap junction protein beta 2) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Progressive sensorineural hearing impairment
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACATGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTT
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Task1_train_18987
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A variant has been detected on Chromosome 13 in GJB2 (gap junction protein beta 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18988
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Consider this mutation in GJB2 (gap junction protein beta 2) on Chromosome 13. Is this a benign change or a disease-causing variant?
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Pathogenic; Hearing impairment
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18989
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This is a variant in GJB2 (gap junction protein beta 2), located on Chromosome 13. Is this mutation a likely cause of disease or not?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1B
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18990
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A variant was discovered on Chromosome 13, affecting GJB2 (gap junction protein beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18991
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A change on Chromosome 13 affects gene GJB2 (gap junction protein beta 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Ichthyosis, hystrix-like, with hearing loss
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18992
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This mutation is located in gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Palmoplantar keratoderma-deafness syndrome
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18993
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This variant lies on Chromosome 13 and affects the gene GJB2 (gap junction protein beta 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Knuckle pads, deafness AND leukonychia syndrome
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18994
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Assess the clinical impact of this variant on gene GJB2 (gap junction protein beta 2), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18995
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The gene GJB2 (gap junction protein beta 2) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Mutilating keratoderma
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18996
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A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18997
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A genomic change on Chromosome 13 affects GJB2 (gap junction protein beta 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18998
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This mutation is located in gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Rare genetic deafness
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Task1_train_18999
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The gene GJB2 (gap junction protein beta 2) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Nonsyndromic genetic hearing loss
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCATAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAGTCCAGTCTTTCCAAATCTGTTTTTAACGACAGAAACTTCTCCCTCCCCTGCCCCATTTTGTCCTCCCCATTAAATGGTACTGTGTCAATAAAATTCCCAAGCGACCTCTTTAAATCAGCGTTCTTTCCGATGCTGGCTACCACAGTCATGGAAAAGGGAGATGTGTTGGACAGGCCTGTCATTACAGGTAGTAGTTGGTGGTACATCCAGTCTGTATTTCTTACACAAAATTACATCTAAATATTTGACATGAGGCCATTTGCTATCATAAGCCATCACTAGGAACTTCTAGTCTGTCTCACTCGATTGAGGCTACAATGTTGTTAGGTGCTATGACCACAATGAATACAACAGACAGCCTCTCAGCTGTGCTGCAAAGTATTCATAACCAAAAGACCATATTTCAAATTAAATCATAGTAGCGAATGACATACCATTTACATATTACAATCTGAGCCTCTGAAACAGGGGGAACATATAATGGTATCCAGAACATCTTTACATCAAAATAACCTATCATACTACAAAGTTTTCACTTCCAAAAAGTGTAACAGAGTTTAAGGCACTGGTAACTTTGTCCACTGTTAGAGATTAAAACTTCCAAAGCAAATGAAAGAACCAATGTTCACCTTTAACGTGGGGAAAGTTGGCAAAAAGAACCCCAGGAGGACACCCAAACCTTCTCTGTGTCCTCTGTGGAACCTGGCTTTTTTCTCTTGTCCTCAGAGAAAGAAACAAATGCCGATATCCTCTGTTTAAAATATGAAAGTACCTTACACCAATAACCCCTAACAGCCTGGGGTCTCAGTGGAACTAACTTAAGTGAAAGAAAATTAAGACAGGCATAGAATTAGGCCTTTGTTTTGAGGCTTTAGGGGAGCAGAGCTCCATTGTGGCATCTGGAGTTTCACCTGAGGCCTACAGGGGTTTCAAATGGTTGCATTTAAGGTCAGAATCTTTGTGTTGGGAAATGCTAGCGACTGAGCCTTGACAGCTGAGCACGGGTTGCCTCATCCCTCTCATGCTGTCTATTTCTTAATCTAACAACTGGGCAATGCGTTAAACTGGCTTTTTTGACTTCCCAGAACAATATCTAATTAGCAAATAACACAATTCAGTGACATTCAGCAGGATGCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTCCGTGGGCCGGGACACAAAGCAGTCCACAGTGTTGGGACAAGGCCAGGCGTTGCACTTCACCAGCCGCTGCATGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGCGGCTTCGAAGATGACCCGGAAGAAGATGCTGCTTGTGTAGGTCCACCACAGGGAGCCTTCGATGCGGACCTTCTGGGTTTTGATCTCCTCGATGTCCTTAAATTCACTCTTTATCTCCCCCTTGATGAACTTCCTCTTCTTCTCATGTCTCCGGTAGGCCACGTGCATGGCCACTAGGAGCGCTGGCGTGGACACGAAGATCAGCTGCAGGGCCCGTAGCCGGATGTGGGAGATGGGGAAGTAGTGATCGTAGCACACGTTCTTGCAGCCTGGCTGCAGGGTGTTGCAGACAAAGTCGGCCTGCTCATCTCCCCACACCTCCTTTGCAGCCACAACGAGGATCATAATGCGAAAAATGAAGAGGACGGTGAGCCAGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCAGGATCGTCTGCAGCGTGCCCCAATCCATCTTCTACTCTGGGCGGTTTGCTCTGGAAAAGACGAATGCACACAACACAGGAATCACTAGCTAGGACAGAACAGGGAGACTTCTCTGAGTCTGGGTAAGCAAGCATGCTTAAATCTCTTCCTGAGCAAACACCAACTCTTACACAACCTCACCAAAACAGGTGAAGACAGAACCAACTTAGTTTGTCATAGGATTAAATGTATAGTTCCCAAACCCTCTTGAACGTGTTTTTAGGTGTTCTCTGATAAAAAGTAGCTTGTTCACCTGAGTAATTCACCCAATCTTTAAACACATCATAAAAATTTGCTGTGCTGGGGAGTGTCATAAAGTCCTCGTTAGCTGAAAGGCACTCAGGGGTTCTGACCGTACCCCTGCATCCTCTGCAGAGCTTCCTTGGGTCTTCCTGACTCTGCAGAAGTTACTCAGCGTTCAACAGCTGCATCCATTTGCAGTCTCAAGTTTTGGCTGTACCACTGGGGCCGATACTAGCTTGGGCCAACCTTGCTCAAAGGCTGAGAGGCCAAGTACAGGAGAACCGTGAGGATAAGATGTCTAGTCTCTCTGCTGAGCCACTTTCCTTAATGTCTTGAATGAATTTTCACAGACGTGGCATGTAGCAGTGAAACTGTTGTTACCAGTGGTTAAGTTTACATTTGAGGCACCCCGAGTTAAAATTTTACAAAGGACCTTGCTTCCTCCTACGTGAAAGGAAGAGGTTAGGAATGCCCTCTTCATGGAGAAAAGCCACTGTGAGCACAGACTTTCGTGTAGGCTTTGTGGATGGCTTGGTGGCCTCACTGTCAGGCTGGCACTGATGGCTCAGTTAGCATATCTGTTTTGATAAGTGCTGCAACAGTGCATTATAATTGTGGGCTGTGGTTTTAATTTCAAAGTGTTTCTTAAAAGACACATTATTTTAAAATGACAGAAAATTCAACTCCCTCGGTTACTGGCCCAGCTAAGCGACGTCACTGCATTGCAGTTCAGCGCTGAAGCTTGGGAGAGTCCCACACTCCTTACTGCAAGCGGATGTGGAGAGGCCAGTGGATAATCTCCTGTGAGCCCATGGCCTTCTTTTCATCCCAGGATGTGAATTGTCTTCACTGATTCATAGTTACACCCTGCCTGCCACAACCAACGCTCTCCTAAACAAGATTCCACCCTCTCCACAATCCGGATGAATCATCTCTTTTCCACCCTTCAGAGCTGGTAGTGAATCCTCCTTCTTCTTTTTCTTAAAAGCATCCTCCTCTCCTCATTTTAGGCAAGTTGCATCCCGTTTTCTGATGGACTCCAGAAGCAGGCTCGTAGTGAATGTCTTTCATGACCCACAGTCGCTGCCACGGGGCACCAAGGTCAGGCAGAAACCATCCAGTGCCACCTTGGTCAGAGGCTAACAGGAGAGAGGTGGCCACGAAAGTTACATCAGATTGACATAGGCCTGTGAAACATTTAGCTTCACTGAGCTTGGGAAAGACAACATCATTGGAAAAAACAATATTTTAGCCCAGGTTCAGCACTGACCCATTGATAATCCAGACTGGGAGGCCCTTAGGTGAGCTGGTTGTCCTGCTACAGCACCCACAGCTCAGGCCAGTCCCGTCCCAACAGCAGAACCACCGAGGACAGCAACATTCCGATTTTAACAAAAGCATCTTATGGAATTAGACATTCTTCATTGGCCCTCACTGAGTGGAAAACAGGATACTCCCCGAAGTAAACTCTCTCCTGGTTTACAACAATACACCTGGCCAAGAATATGGGGCTGCAGGAGGAGGGGTTTATCCTTTGCCCTCTTCCACCTGCCAAACCCAGGTCA
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Subsets and Splits
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