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_3900
|
With a mutation on Chromosome 2 in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Achromatopsia 2
|
TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTA
|
TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGATGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTA
|
Task1_train_3901
|
Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Achromatopsia 2
|
TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAA
|
TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCACAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAA
|
Task1_train_3902
|
This variant affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Retinal dystrophy
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TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAA
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TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCACAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAA
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Task1_train_3903
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This alteration occurs within gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
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Pathogenic; Achromatopsia 2
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CCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAA
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CCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCAAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAA
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Task1_train_3904
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The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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TCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATC
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TCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCTCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATC
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Task1_train_3905
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The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Achromatopsia
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CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCAT
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CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCAAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCAT
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Task1_train_3906
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This mutation is located in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not specified
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CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCAT
|
CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCAAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCAT
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Task1_train_3907
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Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; not provided
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TTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCATTCAATAAGTGAATGGATAGATAAACAGTCAGGCGAGGTGGCGTGTGCCTATAATCCCAGCTACTAAGGAGGCTGAGAAGGGAAAATCATTTGAGTCCAACAGTTTGAGGACAGCCTAGGCAACATAGCAAGACCCTGTCTCTAAAAAAAAAAAAAAAAACGAAAGAAATAAAGAAAAAAGTAAAACAGTGGTATATTTATACAA
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TTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGTGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCATTCAATAAGTGAATGGATAGATAAACAGTCAGGCGAGGTGGCGTGTGCCTATAATCCCAGCTACTAAGGAGGCTGAGAAGGGAAAATCATTTGAGTCCAACAGTTTGAGGACAGCCTAGGCAACATAGCAAGACCCTGTCTCTAAAAAAAAAAAAAAAAACGAAAGAAATAAAGAAAAAAGTAAAACAGTGGTATATTTATACAA
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Task1_train_3908
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The gene COA5 (cytochrome c oxidase assembly factor 5), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
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AGCTAAAGCCATACTTTTAAAAAAAAATTTTAAAACACAGGAATCAGGATGGTGAACTGCTCATACTATGAGAGAACAGCAGATTCAAACTTCCCATCTCACCTTCAATAAGATGCACACTCACTTTAATAGCATACAAAATTACCCACACAATTTAAATGTTTATATTTCTGGGTTTTTTGCCAAGCATGTATAACAAGTTGCATTAACAGCGATATGACTCTACTCATTTTGGAGGACTAACAGTAAAACATGGTCTTGGAGAAAGATTATAAAAAGGTCCCTAAGCTGGTCGGGTGTTAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGGAGAGGTGGGTGGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAACTTAGCTGGGCATGGTGGCAGCTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCACTTGAACCCAGGACGCAGAGGTTGCAGCGAGCCAAGATCACACTACTGCACTCCAGCCCGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGGGTCCCTAAGGTGCTCTTCTCAGTGTCAAAGTATATGTGAAACTCTGCCTTGTACTGATATTTAGAAATGGTAAGATCATTTTACTTTTTATGTAAGATTGTTAAAAATTTCTGCTGAAAGTAGATAAATTGTAAAAATAAAAAAAAATCTGACTTCGTTCTTTGGAGATCGAAGACTGAGCTTTAGGTAGAGAATTTCAGAGGGTTTACTGCACACGCTTTGAAATTCTTGACAAAGTTAAAGGTTTGCATTTTACATGGGTAACAAATCTATGTGAGAGAAGGCAAGAAAATCCTCCTCTATTCACACTGAATGACAGGAAAAGATGTCACTTAAGAAAGTAAACAGAGCAGGGCCAAATTTAATCTAACTTTACACCCTCCCTGGATCTGATTAGCTGGCAAACATGCTCCAAGTTCTTTGTTTACAACCACTTGCAGGTCGTAAGTATCAGTACCCTCCATTTCTTTTGTTAACAAAAAGGAAGGGATTTGCAGTGTAGTTCCTAAGCAAACAAAAGCATGCTCAAGGCCAGGTGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGCACAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGATCTGAGATTGCGCCACTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAACAAAAAACAAAAAACAAAAAAAAAACATCCTCAAGTCCAAGTGCTTTCTTCCTTTAATGGGATGCTCATATTTTTGGTTTTATACATTTCTCCAAGAAAAGGGTCTCAGTTTCCATTCCAAAGATCTCCATACATCTTCCAAATCAAAGAATGTTAGAATGAACCCCAGAGATTTGTAATCTCTTTTTAGGCCCTATTTCTACAATCCATCCCTCCAAAATTCAAACACAGATACTGACATTTTCTCTTAGTCACATAAGGCACAAATGTATACACCTTGGAGCTCCACATTATATGTTTGTATACAATTGCCAACTGATCTGAACTCGAGTGGCCAACATCAACTTTTACCCGTATATACCTGCCGAGACTTCATTCTCACACTTTCAGAAATGCATGAAGTTCAGCAGCTGTAGTTAGCACGGTGACAGAAGAACATAACAATGAGCTGTGGGTTTTTATGAACGCTACCTAACGTTAACTCACTGGAGGAAGAAATATTATCTATGTAATTTTTTCCAAACCATATCACTGCAACTTACCTATAACTATTAAGTCATTCATATATTTAACCTCCCTATAGCTAATTTTTAGCATAGGCTTTTAAAAATCTTTAACCACTTACCACTGATCTTTTACACTCAAAAAATGCGTACTTCAAAGAGTTGCAGTATCCTTCCTTCAAACACTGCCGAGGTGATTTTCCTTCCTATGACAGACACATAAAACAATATAAACACCTTGGAAATTTTCTCACAAAGTACAAAATAATTGTCCTTCTGAAAATAGTCCTTTTTAAAAGTGTTAAAGGAGGAAAATAGAAAGTTATGTAGGAAATAGTTCTTAATTCATTTGGGCTATTGGTGCCTAAAGAATGAAAAAAAAATTGTAAAGTAACTTGGGAACTTTAAGGACACTGTTGAATTCTTGAAAACACTGGTTTCTATTGGATACTTTTCCTTAAACTGTTTATATAAAAATCTAGAAAGGGTTATCTTCATTTCCTTATGGGTGAAATGTGTGAACTGGGTACCCTAAAATCAGAATATTTTTAGTGTTGGCACGAAACACTTCACAAAGATATTAACAAGGCAGGCTGGAATACTACTTAAATAGAAACATGTGGCCCATTCATGCACCAGAAAAAATATAACCCAAAGCTCATCTGCTCTGCATAATCAGGGATTTTCCCTCAAGCAGATTTTGACTCTACAGCCGCATCACTGCAGCCACTCCCCAGAACCTTTATGTTGCAAGTGCCAGGCACGCTCTGCCAGTTTTTCCTATGAAAAGCTACAGGGTACTATGTCTGTGGTATTCCTGTTCCCCAGGAGTCTTGGCCACCTTCCAGTCTGTATGTCTGCCTGGGTCCTAGATATCAAATGTCATCTACCTCAGTGACTCTCAAAAGTGGATAAGAGTAGCAGGTTTCCTTCCTCTCCAAACTCTGCAATTCTGCTGGTGGGATGTGTTGCCCACATGAACGACGTGGAGGCAGACAAAAGAAGACTAACCATATAAAAGGTTATAACTATAGTTTATAAGCTGATGCCTCTTCAAACTGTATCTAAGATGCTACCTTTTTCAAAAGCTTTCAACCTATATTGTCAACTGCCTGGGGTAAAGATCCATCTAGATACACTAAAGCTAAGAGACAGTCATTCGTTATCCACTCCACCCCAAATAACAGACTGCTAGCTGTCTGCTCTTCCTTTTTATCCAGCATATGGCTGGGTGAGATCTCCTAGACGCCCTTGCATCTAGCTGTGGTCCTGTGACTAAGTTCTAGCCACTGGAATGTGTGGGAAACAGGTGTAGAACTTCTGGGTTGGTCCTTAAAGAGGCTTGCCCCTTTCCTCACTTCACTCCATAAGGTTGCCGGGCCTGATGATGTGGAAGCAAACCAGTCTTGGACCATGAATATGAGAGTAACACCCTACTTGCTATATTTTCCTATTTTCACAGCACAGAGTCACAAGATCAACAGTGTCTGCGTTCATGGAAGACTGAGGGAAATGACTAGGCCCTGATTATAGGCACAAGGACAAAAGAGAAAGTTCTCTATCTCGTTTAAGCCACTATTATTCTGGGTCTCTGTAACATGCACTTGAATCTATATTCTAACTAATACACTCCCAAGCTTTTTTGCCTTCTGAGGTCAAGATCAGTCAGTGCTCTCAAACATGGCTGTGCCCAAAACCAACCTAGGAAAGAAACTTTTAACTTATTGGGGGTAGGGTGAGGGCAGCAGTGGAATCTGTACTTTTAAAAAGCCACACCACTTCTAGGTGATTCTGATGAAGAGTCAGTGGATCTGGAAGCTGTTAGTGGAGACGAAGATACCCTATGATGAGTGAAGTTCCTCTGGCAGAGTTTCATTGTCCTGATCATCCAGGAGTCATTAAATCCTAAGAAGTCTCTTCAAGAGATGCCTTTTGAATCTGCTTTTTCCCTGCTTTCCTCCAGCCCCACTGGAATTTACATCCTTACCATTACCCTGAGTTTCTCTGAGGCCCTCTAACTCCTTGACAGTCTCCCAAAGCAGCACCTAGAACTAAATACATGTTTATGTTGAATTCCTCCCTAGAGCGAGGTGCTGCAGGTTTCAGGTGGGTTAAAGACTGGCAAGAAGAGACTACAGCACCAACCTGCCATAGGATCAGATTAACCTTTTTATTCAAGAACTTAAGAAATCAAAA
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AGCTAAAGCCATACTTTTAAAAAAAAATTTTAAAACACAGGAATCAGGATGGTGAACTGCTCATACTATGAGAGAACAGCAGATTCAAACTTCCCATCTCACCTTCAATAAGATGCACACTCACTTTAATAGCATACAAAATTACCCACACAATTTAAATGTTTATATTTCTGGGTTTTTTGCCAAGCATGTATAACAAGTTGCATTAACAGCGATATGACTCTACTCATTTTGGAGGACTAACAGTAAAACATGGTCTTGGAGAAAGATTATAAAAAGGTCCCTAAGCTGGTCGGGTGTTAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGGAGAGGTGGGTGGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAACTTAGCTGGGCATGGTGGCAGCTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCACTTGAACCCAGGACGCAGAGGTTGCAGCGAGCCAAGATCACACTACTGCACTCCAGCCCGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGGGTCCCTAAGGTGCTCTTCTCAGTGTCAAAGTATATGTGAAACTCTGCCTTGTACTGATATTTAGAAATGGTAAGATCATTTTACTTTTTATGTAAGATTGTTAAAAATTTCTGCTGAAAGTAGATAAATTGTAAAAATAAAAAAAAATCTGACTTCGTTCTTTGGAGATCGAAGACTGAGCTTTAGGTAGAGAATTTCAGAGGGTTTACTGCACACGCTTTGAAATTCTTGACAAAGTTAAAGGTTTGCATTTTACATGGGTAACAAATCTATGTGAGAGAAGGCAAGAAAATCCTCCTCTATTCACACTGAATGACAGGAAAAGATGTCACTTAAGAAAGTAAACAGAGCAGGGCCAAATTTAATCTAACTTTACACCCTCCCTGGATCTGATTAGCTGGCAAACATGCTCCAAGTTCTTTGTTTACAACCACTTGCAGGTCGTAAGTATCAGTACCCTCCATTTCTTTTGTTAACAAAAAGGAAGGGATTTGCAGTGTAGTTCCTAAGCAAACAAAAGCATGCTCAAGGCCAGGTGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGCACAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGATCTGAGATTGCGCCACTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAACAAAAAACAAAAAACAAAAAAAAAACATCCTCAAGTCCAAGTGCTTTCTTCCTTTAATGGGATGCTCATATTTTTGGTTTTATACATTTCTCCAAGAAAAGGGTCTCAGTTTCCATTCCAAAGATCTCCATACATCTTCCAAATCAAAGAATGTTAGAATGAACCCCAGAGATTTGTAATCTCTTTTTAGGCCCTATTTCTACAATCCATCCCTCCAAAATTCAAACACAGATACTGACATTTTCTCTTAGTCACATAAGGCACAAATGTATACACCTTGGAGCTCCACATTATATGTTTGTATACAATTGCCAACTGATCTGAACTCGAGTGGCCAACATCAACTTTTACCCGTATATACCTGCCGAGACTTCATTCTCACACTTTCAGAAATGCATGAAGTTCAGCAGCTGTAGTTAGCACGGTGACAGAAGAACATAACAATGAGCTGTGGGTTTTTATGAACGCTACCTAACGTTAACTCACTGGAGGAAGAAATATTATCTATGTAATTTTTTCCAAACCATATCACTGCAACTTACCTATAACTATTAAGTCATTCATATATTTAACCTCCCTATAGCTAATTTTTAGCATAGGCTTTTAAAAATCTTTAACCACTTACCACTGATCTTTTACACTCAAAAAATGGGTACTTCAAAGAGTTGCAGTATCCTTCCTTCAAACACTGCCGAGGTGATTTTCCTTCCTATGACAGACACATAAAACAATATAAACACCTTGGAAATTTTCTCACAAAGTACAAAATAATTGTCCTTCTGAAAATAGTCCTTTTTAAAAGTGTTAAAGGAGGAAAATAGAAAGTTATGTAGGAAATAGTTCTTAATTCATTTGGGCTATTGGTGCCTAAAGAATGAAAAAAAAATTGTAAAGTAACTTGGGAACTTTAAGGACACTGTTGAATTCTTGAAAACACTGGTTTCTATTGGATACTTTTCCTTAAACTGTTTATATAAAAATCTAGAAAGGGTTATCTTCATTTCCTTATGGGTGAAATGTGTGAACTGGGTACCCTAAAATCAGAATATTTTTAGTGTTGGCACGAAACACTTCACAAAGATATTAACAAGGCAGGCTGGAATACTACTTAAATAGAAACATGTGGCCCATTCATGCACCAGAAAAAATATAACCCAAAGCTCATCTGCTCTGCATAATCAGGGATTTTCCCTCAAGCAGATTTTGACTCTACAGCCGCATCACTGCAGCCACTCCCCAGAACCTTTATGTTGCAAGTGCCAGGCACGCTCTGCCAGTTTTTCCTATGAAAAGCTACAGGGTACTATGTCTGTGGTATTCCTGTTCCCCAGGAGTCTTGGCCACCTTCCAGTCTGTATGTCTGCCTGGGTCCTAGATATCAAATGTCATCTACCTCAGTGACTCTCAAAAGTGGATAAGAGTAGCAGGTTTCCTTCCTCTCCAAACTCTGCAATTCTGCTGGTGGGATGTGTTGCCCACATGAACGACGTGGAGGCAGACAAAAGAAGACTAACCATATAAAAGGTTATAACTATAGTTTATAAGCTGATGCCTCTTCAAACTGTATCTAAGATGCTACCTTTTTCAAAAGCTTTCAACCTATATTGTCAACTGCCTGGGGTAAAGATCCATCTAGATACACTAAAGCTAAGAGACAGTCATTCGTTATCCACTCCACCCCAAATAACAGACTGCTAGCTGTCTGCTCTTCCTTTTTATCCAGCATATGGCTGGGTGAGATCTCCTAGACGCCCTTGCATCTAGCTGTGGTCCTGTGACTAAGTTCTAGCCACTGGAATGTGTGGGAAACAGGTGTAGAACTTCTGGGTTGGTCCTTAAAGAGGCTTGCCCCTTTCCTCACTTCACTCCATAAGGTTGCCGGGCCTGATGATGTGGAAGCAAACCAGTCTTGGACCATGAATATGAGAGTAACACCCTACTTGCTATATTTTCCTATTTTCACAGCACAGAGTCACAAGATCAACAGTGTCTGCGTTCATGGAAGACTGAGGGAAATGACTAGGCCCTGATTATAGGCACAAGGACAAAAGAGAAAGTTCTCTATCTCGTTTAAGCCACTATTATTCTGGGTCTCTGTAACATGCACTTGAATCTATATTCTAACTAATACACTCCCAAGCTTTTTTGCCTTCTGAGGTCAAGATCAGTCAGTGCTCTCAAACATGGCTGTGCCCAAAACCAACCTAGGAAAGAAACTTTTAACTTATTGGGGGTAGGGTGAGGGCAGCAGTGGAATCTGTACTTTTAAAAAGCCACACCACTTCTAGGTGATTCTGATGAAGAGTCAGTGGATCTGGAAGCTGTTAGTGGAGACGAAGATACCCTATGATGAGTGAAGTTCCTCTGGCAGAGTTTCATTGTCCTGATCATCCAGGAGTCATTAAATCCTAAGAAGTCTCTTCAAGAGATGCCTTTTGAATCTGCTTTTTCCCTGCTTTCCTCCAGCCCCACTGGAATTTACATCCTTACCATTACCCTGAGTTTCTCTGAGGCCCTCTAACTCCTTGACAGTCTCCCAAAGCAGCACCTAGAACTAAATACATGTTTATGTTGAATTCCTCCCTAGAGCGAGGTGCTGCAGGTTTCAGGTGGGTTAAAGACTGGCAAGAAGAGACTACAGCACCAACCTGCCATAGGATCAGATTAACCTTTTTATTCAAGAACTTAAGAAATCAAAA
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Task1_train_3909
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Here is a mutation in LIPT1, MITD1 (lipoyltransferase 1| microtubule interacting and trafficking domain containing 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Lipoyl transferase 1 deficiency
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CTTAACCTCAAGTTATACACTTTAATAATCCATTCTATTCCCAGTTCTTCAACCTGAAGGAAAATTATATTCTAAGAAATAGAATTGGAATAGAATGATTTAAGACCATAAGTAATCAAAATACTTCATTTTCATAGCTAGTATTTTCAACCTTTTGCTGCCTAATATTTCATTAGCAATGGTAACATGAATAATGTGGAAAGCATCCAAACATAGTGAATTTATTCTTAGCCTTTGTATATAAACCTGCATACTCCCAGTTGCCTCTCTCTCTGACCTCAAGGGTTCATCCTAAGTTAATATTGATCTAAATAAAAGTTATGCTGCCAGTAAATCATATATCCCAAAGTCAAACAGGAAATTATTTTTAAAGTGTTATAAAGACATAATGAAAGCTTTCCACGGAAATGTTCATGAACACATCGTTGATAACCAGAAAAACTAGAAGCCACCTAAAATTACAGACTAAGAGACTGAGTAAACTTGTTAACAATGGAATATTAAACAGTCATTAAAGCTGATGCAAAATAGATTTAATGGGCCAACGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCCAAGACCAGCATGGCCAACATGGTGAAACCCCATGCCTACTAAAAATACAAAATTTAGCCACACGTGGTGGCAGGCGTCTGTTATCCCAGTGAGGTAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATCACGCCACAGCATTCCAGCCTGGGTGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATAGATTGAATGTCGAATGAAATAATAGTATGGGGAGGGAAATGTGTGTGCGTATACATGCTTAGAAATAAAATGGGTTTACACCAAAATGTTAATTGTGATTAGGACTATCAATGCTTTTATTTTTTTCTTCTTGCTTGTCTGTATTTTCTCATTTTTCTCGATGAACATTTGTTACTTGTGAATTCAACATAATTTGGCTTTAAGATATAGGTAATGTGGCTGAGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTGTAAGAGAAAAAAAAAAGATATATTACATAATGTATTTGCAGCAGACTTATTGTTTGAAAACTGTGAAATTATTTCAACTGAAATTATTTGAAATTTGTCTTCATTTATTTCTTTTGAATACTTGGTTATAGCATTGCTAAAGACTAATTGTAAAGCTAAAAGCCAAAAGCAACTGCACTGGATACTTTAAGTTTGGATTAAATAACCGATAATTGATAGTTAGAAAATAGAATTTAATGTTCCTTTTCTCGATGAATTAATTTGTTTGTCTTCCATTTTTAAAAGCATGCTGATCCCATTTTCAATGAAGAATTGCTTCCAGTTACTTTGTAACTGCCAGGTCCCAGCAGCTGGCTTTAAAAAAACAGTAAAAAATGGGCTCATTTTACAGTCAATTTCCAATGATGTCTATCAAAATCTGGCTGTGGAAGACTGGATCCATGACCATATGAATCTAGAAGGCAAACCAATTCTATTCTTTTGGCAGAATTCTCCCTCTGTTGTAATTGGTAGGCATCAAAATCCTTGGCAGGAATGTAACCTGAATCTAATGAGAGAAGAAGGTATAAAACTGGCTCGGAGAAGAAGTGGAGGAGGAACAGTCTACCATGATATGGGTAATATCAATTTGACTTTCTTTACAACCAAAAAAAAGTATGATAGAATGGAAAATCTGAAATTAATTGTGAGAGCTCTGAATGCTGTCCAACCCCAGCTGGATGTGCAGGCTACCAAAAGATTTGACCTTTTACTTGATGGACAGTTTAAAATCTCAGGAACAGCTTCTAAGATCGGCCGGACTACTGCCTATCACCATTGCACTTTATTATGTAGTACTGATGGGACGTTCTTGTCTTCTTTGCTAAAGAGCCCTTACCAAGGGATCAGGAGCAATGCCACTGCTAGCATACCTTCCTTAGTGAAAAATCTTTTGGAAAAGGATCCCACTCTGACCTGTGAAGTACTAATGAATGCTGTTGCTACAGAGTATGCTGCTTATCATCAAATTGATAATCACATTCACCTAATAAACCCAACGGATGAGACACTGTTTCCTGGAATAAATAGCAAAGCCAAAGAACTGCAAACTTGGGAGTGGATATATGGCAAAACTCCAAAGTTTAGTATAAATACTTCCTTTCATGTGTTATATGAACAGTCACACTTGGAAATTAAAGTATTCATAGACATAAAGAATGGAAGAATTGAAATTTGTAATATTGAAGCACCTGATCATTGGTTGCCATTGGAAATACGTGACAAATTAAATTCAAGTCTTATTGGCAGTAAGTTTTGCCCAACTGAAACTACCATGCTAACAAATATATTACTTAGAACATGTCCACAAGACCACAAACTAAACAGTAAATGGAATATTCTCTGTGAAAAAATTAAGGGAATAATGTGATTCCAAGTAAATGTCTTAATACAGTTTCAATTAGAAAATAAAATGTCTCATACTTGCACATTGTATGTCAAAAAAAAACCTAGTCTCTTTTAGTAACGTCAAAAAAAAAAAACAAAACACAACAACCTAGTCTCTTTCAGTAACTTCTCCCCATCTGAAATTCTTTATCACCTATCCCTATCTGTGTATTTCTTCTGACCTCTAGGATCCTCTTTCTTCTCTTTCTTCCTTCATTTATTTTATTTTATTTATTTCATTTATTTATTTTGAGACAGAGACTCACTCTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCCCACTGCAACCTTTACCTCCTGAGTTCAAGTGATCCTCATGCCTCAGCCTCCCGAGTAGTGGGACTACAGGGTTTTGTCACCATGCCCAGCTAATTTTTTCTATTTTTAATAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCTTGGCCTCAAGTGATCCGCCGACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCTGTCTGTTCATTGATTTTAATACCTGGCATGTATTTATATTTCAGCTGCTGCTGCTTTTACTCTCTTGGGGCTATATATAATATTGGACACTCTGACCTCAGACTTAGTTCTCTGTTTTTCTTATCTCTCGGAGATATAACCCAGATTTCTTGCCACCTCTCCTCATATCTCAAACTCTAAAATTCTCCCTTTTAGTTATATTTTCTTATCTTTCTACTCTCCCACTAAAAATCAAGGCTGTTGCACTTTTCTAAGCTCTTAACCCTTCCCTAATCTCTCCTTGCATCATTTCCCTTCTATCCCAGCCTGAAATTTACTTTATGCTTTACTTTCTTACCAGTATTCTCATTTGCTTCTCTCCTTTGACCTTCTACCATAGCCACTTTTTAATTTTAGTCTAAACAATTGATTTTCTACTCTTTTTGGCAGGTGATGCTGGGGGGAAAGATCATATAATCATTGAAGATTAGCCCAATTTGATATTTATAATTTTCAACTTATGTATCTTTCTGCTGGTGTCAGATTTAATTCATCTCTGGTTGAGTTCCCCTCATTCTTAAGGGGAATGTTTCCACTCTTCTCAAGCTCAGAATTTCACTACTCTTACCTTGTCACAAACCTTGATTCATAATTTGGTGAGAGTTGAGGCCTTCAGAAATGAGTCCCTCCAGCCCCCATGGCCCCCCTCCTCCCCTCTCCACTCCCTTTCTCTTCTTTCAAGACAGGGTCTTACCCTCACCCAGGCTGGAGTGCAGTGGCATGCTCATAGGTCACTACAGCCTTGAACTGGGCTCAAGTGATCCTGTTGCCTCAGGTTCTGGAGTAGCCGGAACTACAGATGCTCAACACCATGCCCAGCTCCCTCTGTTTATGAGTTATTTTCTTTTAATATATCTCAGTAGTTCCAGGCCCCAT
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CTTAACCTCAAGTTATACACTTTAATAATCCATTCTATTCCCAGTTCTTCAACCTGAAGGAAAATTATATTCTAAGAAATAGAATTGGAATAGAATGATTTAAGACCATAAGTAATCAAAATACTTCATTTTCATAGCTAGTATTTTCAACCTTTTGCTGCCTAATATTTCATTAGCAATGGTAACATGAATAATGTGGAAAGCATCCAAACATAGTGAATTTATTCTTAGCCTTTGTATATAAACCTGCATACTCCCAGTTGCCTCTCTCTCTGACCTCAAGGGTTCATCCTAAGTTAATATTGATCTAAATAAAAGTTATGCTGCCAGTAAATCATATATCCCAAAGTCAAACAGGAAATTATTTTTAAAGTGTTATAAAGACATAATGAAAGCTTTCCACGGAAATGTTCATGAACACATCGTTGATAACCAGAAAAACTAGAAGCCACCTAAAATTACAGACTAAGAGACTGAGTAAACTTGTTAACAATGGAATATTAAACAGTCATTAAAGCTGATGCAAAATAGATTTAATGGGCCAACGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCCAAGACCAGCATGGCCAACATGGTGAAACCCCATGCCTACTAAAAATACAAAATTTAGCCACACGTGGTGGCAGGCGTCTGTTATCCCAGTGAGGTAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATCACGCCACAGCATTCCAGCCTGGGTGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATAGATTGAATGTCGAATGAAATAATAGTATGGGGAGGGAAATGTGTGTGCGTATACATGCTTAGAAATAAAATGGGTTTACACCAAAATGTTAATTGTGATTAGGACTATCAATGCTTTTATTTTTTTCTTCTTGCTTGTCTGTATTTTCTCATTTTTCTCGATGAACATTTGTTACTTGTGAATTCAACATAATTTGGCTTTAAGATATAGGTAATGTGGCTGAGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTGTAAGAGAAAAAAAAAAGATATATTACATAATGTATTTGCAGCAGACTTATTGTTTGAAAACTGTGAAATTATTTCAACTGAAATTATTTGAAATTTGTCTTCATTTATTTCTTTTGAATACTTGGTTATAGCATTGCTAAAGACTAATTGTAAAGCTAAAAGCCAAAAGCAACTGCACTGGATACTTTAAGTTTGGATTAAATAACCGATAATTGATAGTTAGAAAATAGAATTTAATGTTCCTTTTCTCGATGAATTAATTTGTTTGTCTTCCATTTTTAAAAGCATGCTGATCCCATTTTCAATGAAGAATTGCTTCCAGTTACTTTGTAACTGCCAGGTCCCAGCAGCTGGCTTTAAAAAAACAGTAAAAAATGGGCTCATTTTACAGTCAATTTCCAATGATGTCTATCAAAATCTGGCTGTGGAAGACTGGATCCATGACCATATGAATCTAGAAGGCAAACCAATTCTATTCTTTTGGCAGAATTCTCCCTCTGTTGTAATTGGTAGGCATCAAAATCCTTGGCAGGAATGTAACCTGAATCTAATGAGAGAAGAAGGTATAAAACTGGCTCGGAGAAGAAGTGGAGGAGGAACAGTCTACCATGATATGGGTAATATCAATTTGACTTTCTTTACAACCAAAAAAAAGTATGATAGAATGGAAAATCTGAAATTAATTGTGAGAGCTCTGAATGCTGTCCAACCCCAGCTGGATGTGCAGGCTACCAAAAGATTTGACCTTTTACTTGATGGACAGTTTAAAATCTCAGGAACAGCTTCTAAGATCGGCCGGACTACTGCCTATCACCATTGCGCTTTATTATGTAGTACTGATGGGACGTTCTTGTCTTCTTTGCTAAAGAGCCCTTACCAAGGGATCAGGAGCAATGCCACTGCTAGCATACCTTCCTTAGTGAAAAATCTTTTGGAAAAGGATCCCACTCTGACCTGTGAAGTACTAATGAATGCTGTTGCTACAGAGTATGCTGCTTATCATCAAATTGATAATCACATTCACCTAATAAACCCAACGGATGAGACACTGTTTCCTGGAATAAATAGCAAAGCCAAAGAACTGCAAACTTGGGAGTGGATATATGGCAAAACTCCAAAGTTTAGTATAAATACTTCCTTTCATGTGTTATATGAACAGTCACACTTGGAAATTAAAGTATTCATAGACATAAAGAATGGAAGAATTGAAATTTGTAATATTGAAGCACCTGATCATTGGTTGCCATTGGAAATACGTGACAAATTAAATTCAAGTCTTATTGGCAGTAAGTTTTGCCCAACTGAAACTACCATGCTAACAAATATATTACTTAGAACATGTCCACAAGACCACAAACTAAACAGTAAATGGAATATTCTCTGTGAAAAAATTAAGGGAATAATGTGATTCCAAGTAAATGTCTTAATACAGTTTCAATTAGAAAATAAAATGTCTCATACTTGCACATTGTATGTCAAAAAAAAACCTAGTCTCTTTTAGTAACGTCAAAAAAAAAAAACAAAACACAACAACCTAGTCTCTTTCAGTAACTTCTCCCCATCTGAAATTCTTTATCACCTATCCCTATCTGTGTATTTCTTCTGACCTCTAGGATCCTCTTTCTTCTCTTTCTTCCTTCATTTATTTTATTTTATTTATTTCATTTATTTATTTTGAGACAGAGACTCACTCTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCCCACTGCAACCTTTACCTCCTGAGTTCAAGTGATCCTCATGCCTCAGCCTCCCGAGTAGTGGGACTACAGGGTTTTGTCACCATGCCCAGCTAATTTTTTCTATTTTTAATAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCTTGGCCTCAAGTGATCCGCCGACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCTGTCTGTTCATTGATTTTAATACCTGGCATGTATTTATATTTCAGCTGCTGCTGCTTTTACTCTCTTGGGGCTATATATAATATTGGACACTCTGACCTCAGACTTAGTTCTCTGTTTTTCTTATCTCTCGGAGATATAACCCAGATTTCTTGCCACCTCTCCTCATATCTCAAACTCTAAAATTCTCCCTTTTAGTTATATTTTCTTATCTTTCTACTCTCCCACTAAAAATCAAGGCTGTTGCACTTTTCTAAGCTCTTAACCCTTCCCTAATCTCTCCTTGCATCATTTCCCTTCTATCCCAGCCTGAAATTTACTTTATGCTTTACTTTCTTACCAGTATTCTCATTTGCTTCTCTCCTTTGACCTTCTACCATAGCCACTTTTTAATTTTAGTCTAAACAATTGATTTTCTACTCTTTTTGGCAGGTGATGCTGGGGGGAAAGATCATATAATCATTGAAGATTAGCCCAATTTGATATTTATAATTTTCAACTTATGTATCTTTCTGCTGGTGTCAGATTTAATTCATCTCTGGTTGAGTTCCCCTCATTCTTAAGGGGAATGTTTCCACTCTTCTCAAGCTCAGAATTTCACTACTCTTACCTTGTCACAAACCTTGATTCATAATTTGGTGAGAGTTGAGGCCTTCAGAAATGAGTCCCTCCAGCCCCCATGGCCCCCCTCCTCCCCTCTCCACTCCCTTTCTCTTCTTTCAAGACAGGGTCTTACCCTCACCCAGGCTGGAGTGCAGTGGCATGCTCATAGGTCACTACAGCCTTGAACTGGGCTCAAGTGATCCTGTTGCCTCAGGTTCTGGAGTAGCCGGAACTACAGATGCTCAACACCATGCCCAGCTCCCTCTGTTTATGAGTTATTTTCTTTTAATATATCTCAGTAGTTCCAGGCCCCAT
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Task1_train_3910
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Gene AFF3 (ALF transcription elongation factor 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; KINSSHIP syndrome
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GTGGGAGTGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTA
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GTGGGAGTGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCCCATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTA
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Task1_train_3911
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Here is a variant affecting AFF3 (ALF transcription elongation factor 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; KINSSHIP syndrome
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TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGC
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TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGAGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGC
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Task1_train_3912
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This is a variant in AFF3 (ALF transcription elongation factor 3), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; Inborn genetic diseases
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TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGC
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TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGTGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGC
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Task1_train_3913
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This variant lies on Chromosome 2 and affects the gene AFF3 (ALF transcription elongation factor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; KINSSHIP syndrome
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TGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGCCATCA
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TGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCAGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGCCATCA
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Task1_train_3914
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Mutation context: Chromosome 2, Gene AFF3 (ALF transcription elongation factor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; KINSSHIP syndrome
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GATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGGTTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGCCATCAT
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GATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTCTCTCTGCTAACCAGACACCATACACAGCATGTTCTTTCCAATCTGAGTCCTCAAAGGGCATCCTGAAAGTGTCCAGGTTATTAATGACATACCCAAAAGCCTCATAAAAACTGCACAGTTATCTGCTTAAGGCTTTACTGGCAATCAAAAATTCATCTTTTTTTGTTTTAACTAGAGTTTTATGAACTCACTGAATTCCAAAATAAACAAACATGTAAATTATTACCTAATAAATCTGAAGTTTCTTTGGTAGATAAAAACCATTTTAACAAGAAGTCAATTGAGATTGAAATAATGAAGGGGTTCCTGGTGGTTGTAAAAGTCAGTCACCACTGCTCAAAGATATGCCGGAATTTATTTGCTGCTACCAGTCATTTGATGATGACGAATCAAACAGCCTGATGAATTCAGTTTTGTAAGATGGTACCTACGTGTGTCTCCTACAAACTTTTAAAAACGTAAATGCCTATAGAAATTACATTTTGCTTCCATTAGTTTCTAGTGAACATTTTCTAGAATCTATCATAAACGTGTAATCAAAAAAAGTTACGGTATACCTGTCACTTGATCTTCTCTACAAAACCAGTGTAAACATCTCATAGATTAAAAAAGAAGTCTTTTCTAAACGGTGATATGTTGATATCCCTATCAGTCCGTGGTGATCTCTGAGATGATAGTTCAGAAATGTTTAAGCTCAGCCTTGTCAAAAATGCAACAACAAATGTCAAATCATTGCTTTCATTTGGTTATTAAATCAAATTAAGATACAAAGAATATTCTGGCCACACTGTTACTCAGTCTTTAAAGAATATGTTAAAAAGAGAAAAAACTGAACAGTTCCTAAGTATAATGTTCTAGAACTCACATTTAATTTTAGTTAGTATACAATATCACAGCAAAAAATATGTATGCATGGTCATATTTTTTTCTTCATGTACTCTTCACAACCATCATCAATTTGGAATATGGTCTGAGACAGGACAGGATTTCCAAAACATTTGAATAGTTCACCATATTCAAAGTTGAATAATTTAAACAATTAATTTAAAAACTATTATGAGGTTTATTTGGTAAAGTTTGTGTTAAAATATTTCAAAACACGAAAATGTTAAGAGTTTTGGAACTCTTTTACATAAAAATTTACCTTAAATAGGTAAATAGATACTGAAATTATAGCCTTTAAGTGCTTTTCTTACTTCTGAATCACTTATTCACTTATTTCTTAATTTTATTTATACCCTCAGTGAACACTAGCTATTCAGAAGAAAATTCTCAAACTATAGTGAAGGGGACATTCCTTCCCTAACTAATACATACACACACAACTGCATTTGCTGGAACTCTAAAAATTCAAATTATAATAAATTTGAGATTTTAAGAAATCACTATTTAAGTCTGCCTCCCCTTTCAGTGACTGCTACAAATCCTACCACATGAAGTTAACCACATCACTGAAAAAAAAGAAACATGGAAACTGAATTCACGAGGGTCAAATTGTCACTTGTAACTATGCAGTTGCATGTGAACGGTGCTGATAAAGACTCACCTCCCCCTGCTTGGGGATGCTGAACTTGGAGAGCTTGGCCTTGGCTCTGGCAGGCTCCGGCTTGCTGGCAGGGACTCCCCTGTATGATGTGCAGTGCACGCTGGTTTCCGAAGACGACTTCAGCTTAGGAGACTCATCAGGGGCCTGATCTTGGCCGTCCATTGGCCTCACATACGCGGTCGATTTCTGCTGGACCAGGCTGGGTTTTGAAGCTAGGGATGGAGGAAAGTTCTGAACACAGTGTCCGCTGCTGCTGTGCTTGGCCGCCATGGCAGGTGGCCTCTCCTGGGTCTGAAGGCCCACCTCCACATTGCACACTTGTTTGGCCCGAGGCTGCTGTCTGCCAACACCATCTCCAAGCAAGGTCCTGAGAGAGCCCTGTTGTGCTGAGTTGGAAGAAGAAGAAGAGGAAGATAAGGATGAGGGGGGTCGACACATAGGGATTTTCTTTTTTCATTATAGTTCTCTGGGTTTTAGCAGATTTGTGCAAATCAAGCAACCTGTGCCTGTGCTTACTTGCTCTCTGTTGGCCGTCAGAGGGTGGGTGCCCAGCCTTCTGCCAGCCCATAGTGCCTCTCTTACTCTGCTGCACGGGGACAGCTGCTGGTGTGGAAGTTGTAGTGCTACAGATAGACGAGGGCTGGTTCTGGGCTCTTGAATCTGCAACAAAATGTTCATCGATCTTGTTCACAGGAGTCTGAGGAACCCCAGGTTTGGGAACTCCAACGAGATGACTCTGATTGGATCTATCAGTTAAAAAGTCTTTCATTTCATCATAATTGCCTAAAGTGTTCTGGATCCGGTTGGAGAGTTCATCCCCCTTGTTAGTCTGGAGAAAGAAAAACACATCCACGCTATTGTTAGAGACAACAGAAACACCGGAGATAATCAACAGGTGCCCTTATCAATCACAGAGCCAGGGTTGTCACATGCAGAATGAGAGCTGAGAGATGAAATCGAAATCCTTATCGTCTCTGAAGATGTCTGTCAGCACTTGGTGATGCACCAGAACAGGAAGCCTGTAATGGCCTTGGGGTGCATAAAAAGGGATCTATCCGGCCGGGCGCGGTGGCTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACACCTGAGGTCAGGTGTTTGAGATCAGCCTGACCAACACGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGTGGGGTGTGGTGTCGGGCTGCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCTGTCTCAAAAAATAAAAAGGAGCAGGGGGATCTATCCTTGGTACTGTGTGTGTTGCAGCTAAAACAGATTACCTGGAAATCAGGAAAATTAACTATTGCAACTTTAAAAAATGAACTGGATTAAGTCTTTCTATGATTGGATTGTCCTGTAATTGTAGTCCCGTTAGAAGCTTTACTTGAAAATTCAGATTTGGCTCGGGATTAGTCTAAATATCATTCTTGCCAGAAATCCAGAGTGACAGGCAAGAGATGTCAATGTGAAGCTTAAAGGAACATGGGGCTAAATGTGCAGGAAGCTGGAATGACCCAGAGCTCCATGCCGCCTAAGGTATTTGTGAAATCTGGGATGACATTTCATTTTGGAAGCAAGGTTATATTTCTGGCCTTTGGTAAAAATGAGAAATAATCTTAGACTTTCTTTCTCATTAGCCCTAACAGGTACTCTAATCCTAGCGTGATCCATGTACGACAAATATGTAACACAACCTCCTTCTAATAGTGTTTGTTTCCTACGATCTGAGAAAACATAACAAATGGGATTGACCTTATAATATGTCAACGCGGAGATGAAGTCTGTATTATTGATAAAAATCACAGCAAGCAGATCTCAATAGTAAACAAAAGTTGCATGTTACTGAGGGAGTGGCCAGTAAAGCCATGTGAACCACACACCTCAATTTCTGGGGGAAGACCCCGTACTTGGTGGCTGAGCTGTCTTCCCTGGGCTGAACAGACAGAAGATGCAGTCAAGTTTGGTCGGCCAATTCTTTTAGTCAAGGCCACCGTCACAGGGAGTGAGAGAAACAAGTGAGAGGTAGAGATGAACAACTGAAAACCATCTACCTTGTAGGGCTCACTGAAGAGAGAGTAACTAGAATTAAACGTGCCATCAT
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Task1_train_3915
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Located on Chromosome 2, this mutation impacts POU3F3 (POU class 3 homeobox 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Snijders blok-fisher syndrome
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GGGAAAAAAATAAAACACCAACCCCAACCGTCAGCAACAAGGTAACAGAGCGATTCGACATCATTTTTTTTCCTGTTCAATTTTTTCCTTGTTATATTTGTTTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAG
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GGGAAAAAAATAAAACACCAACCCCAACCGTCAGCAACAAGGTAACAGAGCGATTCGACATCATTTTTTTTCCTGTTCAATTTTTTCCTTGTTATATTTGTTTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCCGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAG
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Task1_train_3916
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This mutation is located in gene POU3F3 (POU class 3 homeobox 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Snijders blok-fisher syndrome
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TTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAGAGCTGATCGAGAAAATAAATTTGTTAGAATGAAATAGTCTGTGTCTGATGCGTAAACACTGTGTGGGAAGAAAAGAGTTCTTTAAGAAATATTTTTTTACT
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TTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCAGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAGAGCTGATCGAGAAAATAAATTTGTTAGAATGAAATAGTCTGTGTCTGATGCGTAAACACTGTGTGGGAAGAAAAGAGTTCTTTAAGAAATATTTTTTTACT
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Task1_train_3917
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A genetic alteration is present in POU3F3 (POU class 3 homeobox 3) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Inborn genetic diseases
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AAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAATCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAGAGCTGATCGAGAAAATAAATTTGTTAGAATGAAATAGTCTGTGTCTGATGCGTAAACACTGTGTGGGAAGAAAAGAGTTCTTTAAGAAATATTTTTTTACTAATGAAAATCCCTAAGTAATAGCGTTGAGGAAGTAGAGCCTGCTCCACTTAAGGTACTTTTGGAAATCTAGAGTAAAGCATAGGCATTGCTGAGACAGCTAGTATTTTAACATAGTAGTCACTCCTCGATAATCCATAAATTCACAATATTTTTCTCTCCCTTAATTTTAGTGGATGTCTTTAGTGTTTTCAGGTGAGATTGCCTAAATATTAACCCTTTTCTTGGCGATACCTGTGTTTCTTATCGAAAGATTGAACGATATCACCAGTAAAAATGAGCCAA
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AAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTGAAGGGGGTGGCCACGGAGCGCACCCCGAGAAGCGAGCCCCCCTCCCCAGAGCGCTGCTCCTGCGGCTGCTGCTGCTGCTGGTGACCAAGGCCGGCCGGCGACCCCCGCGCCCTGCCGAGCGGCCTTGCAGCTGCAGCCGGGGGCCGCGGCGGCGGCGGCGGCGGCGGGGGCGGAGGCGGCGGCGGAGGAGGAGGCGGCGAAGGCGGCGGGGCCGGCGGGGGCCCGGGGCGGGGGCGGGGAAGGAGGGGGGGAGGAGGCGGGAGGCGGGGGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCTGCTGCTGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGGGTGGCGGGAGCGGAGCGGCATGGCCACGGCGGCTTCTAACCCCTACCTGCCGGGGAACAGCCTGCTCGCGGCCGGCTCTATTGTGCACTCGGACGCGGCAGGGGCTGGCGGCGGCGGGGGTGGCGGCGGCGGCGGCGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGGCATGCAGCCGGGCAGCGCCGCCGTGACCTCGGGCGCCTACCGGGGGGACCCGTCCTCTGTCAAGATGGTCCAGAGCGACTTCATGCAGGGGGCCATGGCCGCCAGCAACGGCGGCCATATGCTGAGCCACGCGCACCAGTGGGTCACAGCCCTGCCCCACGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGTGGAGGCGAGCTCGCCGTGGTCGGGCAGCGCCGTGGGCATGGCTGGCAGCCCCCAGCAGCCACCGCAGCCGCCGCCGCCACCGCCGCAGGGCCCCGACGTGAAGGGCGGCGCCGGGCGCGACGACCTGCACGCGGGCACAGCGCTGCACCACCGCGGGCCGCCGCACCTCGGACCCCCGCCGCCGCCCCCACACCAGGGCCACCCTGGGGGCTGGGGGGCGGCCGCCGCTGCCGCAGCCGCAGCCGCCGCCGCCGCCGCCGCCGCGCACCTCCCGTCCATGGCCGGGGGCCAGCAGCCGCCGCCGCAGAGTCTGCTCTACTCGCAGCCCGGAGGCTTCACGGTGAACGGCATGCTGAGCGCGCCACCGGGGCCCGGCGGCGGCGGCGGCGGCGCGGGCGGTGGAGCCCAGAGCTTGGTGCACCCGGGGCTGGTGCGCGGGGACACGCCAGAGCTGGCCGAGCACCACCACCACCACCACCACCACGCGCATCCTCACCCGCCGCACCCGCACCACGCGCAGGGACCCCCGCACCACGGCGGCGGCGGCGGCGGCGCGGGGCCTGGACTCAACAGCCACGACCCGCACTCGGACGAGGACACGCCGACGTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGCACACTCTACGGCAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTGAACAAGTGGCTGGAGGAGGCGGACTCAAGCACCGGCAGCCCCACAAGCATCGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGGACCTCTATCGAGGTGAGCGTCAAGGGCGCGCTGGAGAGCCACTTCCTCAAGTGCCCCAAGCCCTCCGCGCAGGAGATCACCAACCTGGCCGACAGCCTGCAGCTCGAGAAGGAGGTGGTGCGGGTCTGGTTCTGCAGTCGGCGCCAAAAGGAGAAGCGCATGACGCCGCCCGGGATCCAACAGCAGACGCCCGACGACGTCTACTCGCAGGTGGGCACCGTGAGCGCCGACACGCCGCCGCCTCACCACGGGCTGCAGACGAGCGTTCAGTGAAGCCAGGGCGCAGAGCGAAGAGGGCCGCCGCCGCCGCCGCCTCCGCAGCCGCCGTCAGCACCGCCGCCGCCCCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCGCCGACCCTGCACCTGGGCCGCTCCGGGCTCCAGCCCAGGCCCATCCGCCGCCCTCCCCTCCACCCAGAGACAGGCATGCCCGCCCTTGGAGGAGAAAACGCGGGAGAAACGGACCAAGGAGGCATTTTTGCAGTCCAAGGAAGGAGGGGCCAAAAAATAAAAAGCATAATAAACACCCAGACTGTTTTGTATACATATATAACAAACAAAACCGGAAGAGAAAAAGGGGGCGATCATGAGATCTCGTTCATACTGTGGTGGTGTTTCGTTTTTGTTTTTGTTTTTAAAGAAGGGTGAAGATGCCTGACGCACGAAAACTGCACTCGTGAGGTTTTTCCACCCTGAGATGACCTACACGGCAGCGGTGGACAGCACCTGCCTCGTCTTCTCCTCTTTGAAAAAAAGAGAGAGAGAGAGTCCCCTTTCCTTTCACTTTCTCCCTCCAAAACAGCTGCCTAAAGAGATCCACGGAAACTTTATTTCCTGGGAGCGACCTGAGAGAAAACAGAGGCACCAGGTTCCATCAGGGGACGACACCGTGCTCTGGGACCCTGTTTTTCTTGGCCATATTAAAGTCATTTGGAAACAAATCAACTCTGAAATGGGAAGGAGGGGGGAAAAACAGTCTCCAAGAAAAAAATAATTATATTGACAGCTTCTGAAACTAACAGACTGAATAGCAAAGCCAAAAGAAAAGTATCCTCAAAGTAACCTTGGAAATAAAAGGATCGGGAAGGAGCAGAGGGAGAGGGGGAACGTCCGCTGAGGAGTGGCGAGAGGCCCCGGCCGAGTCGGGTCGCGGGCGGGCGGGCGAACTGGGAGCAGAGCGGGGGCCCAGCCAGCGAGGCCGCCGAGCCAGGCCCGGCCGCGTACCCAGGCTTTGACGGCTGCCATTCAGGGTGGACGATGCCTAAAGATTCCACCGCTAATATTTTTTTTATTAATATTTTTTATTTTTTATTTCTGGACTGACTCAGATAAAGGAATTTAGAAAGACTGAGCACCAGCCGCTGCACTTCTCTGGACTTCTCTCCTCAATCCGTTGCCAACTTTGATTGAATGGGTGCTGTGGATGTGATTATATAATACTGCCATTTCCAAGCAGTGTTTTTGGTAGGTTTTAATAAACAGACTTTTCAAAAGACGGCAATATAGAATTGTTAGATCCGTTGTTGATCTAAAAATATTTGCTTTATATTTTCATTAAATGACTTCTTTTAATATTTTATTCAGAATACTTATGAACTGCTGCAAAACGGTAATTTATTTTTCCCCAGATCTTGTATTACGTGTTTTTTTCAGACGAGCACAAATCAAAATGAAATGAAAATATGGACAGTTGTTAGGTAATAAGGGTATCTTTTGATGTGATCATTTGATTGTAATTTAATTTGAGTAGTGATTCCGTAAGAGCTGATCGAGAAAATAAATTTGTTAGAATGAAATAGTCTGTGTCTGATGCGTAAACACTGTGTGGGAAGAAAAGAGTTCTTTAAGAAATATTTTTTTACTAATGAAAATCCCTAAGTAATAGCGTTGAGGAAGTAGAGCCTGCTCCACTTAAGGTACTTTTGGAAATCTAGAGTAAAGCATAGGCATTGCTGAGACAGCTAGTATTTTAACATAGTAGTCACTCCTCGATAATCCATAAATTCACAATATTTTTCTCTCCCTTAATTTTAGTGGATGTCTTTAGTGTTTTCAGGTGAGATTGCCTAAATATTAACCCTTTTCTTGGCGATACCTGTGTTTCTTATCGAAAGATTGAACGATATCACCAGTAAAAATGAGCCAA
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Task1_train_3918
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This alteration occurs within gene SLC5A7 (solute carrier family 5 member 7) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
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Pathogenic; Congenital myasthenic syndrome 20
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AATCTCCGCCCAGTTTTCTGGAGGAGGAGATGGGAGTAGCAGGTACTTGTCTCAGGATGGGGATACCATGGCTGGCAGCGCGGACCAGAGCCCAGCCTGCCCCCCAGCTCCTTGGGCCCCGTTTCCTTCGCATCCCGCACACCCACCCTCCTCGCGAGGGCAGCGTCCCTAGCACACGCCCTAGCACCACTCTCCTCTGACGTCCGCCTCCGGATGTCTGACGATCGCCCCCGCCTGCCGCCCTTATAAAGGGGACTTTTCCCAATACTCGATCGATTCCCACCTCGCCCTGCGCCGCGCGCCCTCCGCCGGCGCCAACACCTGTCAACTCTGCGCGCTCCCAGGTTCTTGGAGACGCCGAGTGAGGAGCCGCCCTGACCGCCCGGCCCCGCTCCGCACTGCACCCCGACCCACCCCGCACCCTCCCTTTCTGCACCCTCGCACCCACACCCCTCGCGGTTCCAGGGGGCGGCGGCCCCGGGCGGAGCGCTTTCGCGTGCAGCCACCACTCCAGGTAGGAGCGGAGCGGGCATTCCTGCGCCTACGGGCCCGCACCCTCGGAAACGCCTTGGGCACCGAGCCCGGGCGGTTTTAGAGGGGAGGGACGCGGCGTTTTTCCCTCTCGGTGGGATGCGAGGGCGGGTTTGCTGTCTGGCACCGTTGCTGTCAGGGTGCAAGAGGCTACAAAGTCTGGGCGCAGGAAATGGGTAGAGGGGGCCGAGGAAAGGCCGCAGGGGGCCGGGAGAGCATCGGGCTGCTGCGGAGAGGAACTTGCCTGCTTGGTTGCTCACAAAGGCAGAGAAGACACAGCCCGCGGGCGCTTCTTTTGCCTCCTTTAAATTCCAGAGAGGCTGATTCTTTCCCCCAACGTCTCTTCACCCACCTGCACGCACAAATGTCAGAGTTTCCCCCAGAAACTTGTATGTGAGAGTTTGGGTTCATGGAACAGCTGTGGTCACAAAGGTAAAAAATAAATAAAAATAAAAATAAAAGGGGACAAGAATTTCAGAAGGTGAATGCTTTCGAACTTGACATCTGTCTTCTAAGAGTCTTGATTTTAATATCTTTGAGGCTTCTGATGTGCTTTTAGGCAATTGTGTTTAAAACAACAGCAACAACAACAACAAAACCTTTTCCTGTATGTACCATTAATGGGGGGTGATGAATTGAATGAAGGATATTGGGCGAAGAAGATCAAGAGAATGGATCCTTTCAACAACAAAAAACATACTTAGTTGCTATAGTAACTTGAACTACAGAAGCTTGTTGAAAATGTGGAGTTTGATGTGTTTTTGAAATGGATTTTTCTAAAGATTTTTTTCAGATATTTTTATATCAGATTACTACTGAAGCCATTCTCTGAAGTTGTTTGAAAGGACAGATAAAAGAATGAATAAATTAATGAATATTTTAAAATTTTCAGAATGGTCATTTATGAAACACTTAACACTTCTAGAATAAATAATTCTAGAAGAGTAACTTAGTTCCAAAACGCAGATACAGCGCTACTCTTTGTAAATGATTTGACAGTTACTGAGTTAAGATATACACGACAAGGTTAATTTTAAATTTAAAGCATGTATGAAACACACAAGGATTATGATTCCATTTGTTAAACTACATTTCCGTTTTTTTTTCTGTTTCTTGCAAACTCAAAATAATGTTAAATTGTTAAATAGAAGTAGGATAATGTAGTGGACACTTATTGTTAACTGCCCGTTTCACGTGTGGTTTCAGGGTTGTACTCTTTCTGTGAGTGGCACAGGATCTCGCATGAGCCAGCTGGTTTATTCCTGGCTGCCTACATGTGCATAGTGCTTGACTGGTTTATAATGCATCCCTGTATTTTCTTCAGAAGACTTAATGAAGTAGCCAGCTGCAGAAGAATCTGGATCATTAGATAAAAATGGCTTTCCATGTGGAAGGACTGATAGCTATCATCGTGTTCTACCTTCTAATTTTGCTGGTTGGAATATGGGCTGCCTGGAGAACCAAAAACAGTGGCAGCGCAGAAGAGCGCAGCGAAGCCATCATAGTTGGTGGCCGAGATATTGGTTTATTGGTTGGTGGATTTACCATGACAGGTACGTTCAGACGCCGCCGGCTCCATGCAGTCCTCCCTTCCTTGGCATCTGTGAGTGTGCAGCGTGTGGCTTCAGAGTGACAAAGCAAATGTTGGTCTTTGTCCTTTGGGGATTCTTTATGTTCACTAGTTATATATATTTTAAAATAATTTTCTATTGATTTAAAACCTAAAAATAAATTGGTTTCAACTCAGTAGTACTTGAACAAAAATGATTTTATAATAAATCACTGGACTGAACAGTCATGAAACAAATCTTGGCTCCCTGGGCTATTGAGTGGGTGGAAACAGAGTAAAAACAAAGAGGTGGGGGAATGGGAAGCTGTCCTAGTATTACAAGCTATGTATCTGCTAATTAATGTGATAGGCAGCATCTCAACGTGTCCGGTAATACATGCATAAAGTTGTGACTTTGAGATTTAAATAAGTGCCAATGAATACCATCTAGTGATGGTTTTTAATCTGCATAAATAAATTTGGGGGTGATGATATTCCCAATTGAGTGATTCCCTGTTTTGAAACCTAATTCTTTCATTTAATAACTAATTCCTCACAGGAAGACAATCACATGTTATGAGTCCACAGCACTAATAAAGAGATTTCATGAACCTTGTTATAAAAGGGAAAAGCTAGGGTGTGTCCTCATAGGAATCCCCAGGCCACCATCTGCAGTCATCTCTCATTCAAACCTTCTTTGTGTTAGCAGGAGCTGATATTCTTTCTTACTTTGCACTAAAGTGGTTCTGTTTAAAGGGTGATTTGTTTCTTTTTTATATTCTTCTTGGTCGTTGAAAATAATTCTGAAAAACATCAACTTAGAATTATATGTTTAATATTTAATACAGTTGCACTAACAACACATATTTCATTATACAGTCTTAGTAGAGTTTTTAAACATTTGCAACATAGCAAGAACTGTGAGCGTTCATTGGAAAAATATCCCATGGGAAATGATATCAAGTGATGCCCAATTTCAGTCCCGAAGGGCAATTTTAAAATGATTCACCGTGTATATCAGATAGTTTACCAAACCAGTCTGGGGAGAGGCCATTCATGTTCTGAACCCCTTGACTTTGGCAATCTGAAACTTACAGTGTTCTATGTGAGCCATCAGTTTTATCTTTCAGACATTGACATTTTATCTTTGTTTAACTCTTCATCTACTGTACGTGGACTCATTTGGTCTTTATAACGGCATTATGATGAGCATCTGGGGTTAAGTGGAGATCCCGGGTTACAAGGTTAACAAGGACCAGGGCTGGAGCCAGAACCAAACACAGGTCTCCGGTAACTTAGTTCCAAAATGCAAGTACTGCGTCATGCTGGTGACCGCCCCATGCTGTGCCACATGCAGCCCTGTAACTAGTTTCACTTTATTTCTTTCAAAAGGTGCACAGTTTGTAAACACTGCAGAAAGAATAAGAAAGCTGCTGCATATCAAAATATGTTGTTTATTGAAAATAATTATAGCCCTCTACTATTCTCATTTAATATTCTGTTTAATATGGTCATAAAAATAATATTTTATATTTTGTTTTTACCATTTAGAATGGTTTTTTTCAACCTAACAAGCTATTAAAAGGTACGGAAAATATTTGAATCATGCTATTTTTTATAAAGGGCCATGATCTTCCTCAGTTCGTAAAACTTTTTTTTCTTTCTCAGAACTCAAAATAACCTTGGTCAATATCATAATTCATTTAAAATCTGAACCATACTACCTAACCTTGTCAGATTGATTGACTTGGATATATTTTATAAAGAATAGAGATAAAAAATGTTGATTCTTTTAAAAATGAATATATTTTAAGAGGTTGTGTTCTCACTCATGGATCTGACACAAAATATACAAACAAGGAGAGCAAATACTGTTATAGAAGAGACTAAATTCAATTATAAAGGGGACTTTTAAATCTTAGTAAGTAGCCAAGCCCTCACTTCTATATCACAATAGTTGCAATGATTCAGTCACCAATTTTCTTTTTGGACAAGGGACAGTAGACTTACACAATG
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AATCTCCGCCCAGTTTTCTGGAGGAGGAGATGGGAGTAGCAGGTACTTGTCTCAGGATGGGGATACCATGGCTGGCAGCGCGGACCAGAGCCCAGCCTGCCCCCCAGCTCCTTGGGCCCCGTTTCCTTCGCATCCCGCACACCCACCCTCCTCGCGAGGGCAGCGTCCCTAGCACACGCCCTAGCACCACTCTCCTCTGACGTCCGCCTCCGGATGTCTGACGATCGCCCCCGCCTGCCGCCCTTATAAAGGGGACTTTTCCCAATACTCGATCGATTCCCACCTCGCCCTGCGCCGCGCGCCCTCCGCCGGCGCCAACACCTGTCAACTCTGCGCGCTCCCAGGTTCTTGGAGACGCCGAGTGAGGAGCCGCCCTGACCGCCCGGCCCCGCTCCGCACTGCACCCCGACCCACCCCGCACCCTCCCTTTCTGCACCCTCGCACCCACACCCCTCGCGGTTCCAGGGGGCGGCGGCCCCGGGCGGAGCGCTTTCGCGTGCAGCCACCACTCCAGGTAGGAGCGGAGCGGGCATTCCTGCGCCTACGGGCCCGCACCCTCGGAAACGCCTTGGGCACCGAGCCCGGGCGGTTTTAGAGGGGAGGGACGCGGCGTTTTTCCCTCTCGGTGGGATGCGAGGGCGGGTTTGCTGTCTGGCACCGTTGCTGTCAGGGTGCAAGAGGCTACAAAGTCTGGGCGCAGGAAATGGGTAGAGGGGGCCGAGGAAAGGCCGCAGGGGGCCGGGAGAGCATCGGGCTGCTGCGGAGAGGAACTTGCCTGCTTGGTTGCTCACAAAGGCAGAGAAGACACAGCCCGCGGGCGCTTCTTTTGCCTCCTTTAAATTCCAGAGAGGCTGATTCTTTCCCCCAACGTCTCTTCACCCACCTGCACGCACAAATGTCAGAGTTTCCCCCAGAAACTTGTATGTGAGAGTTTGGGTTCATGGAACAGCTGTGGTCACAAAGGTAAAAAATAAATAAAAATAAAAATAAAAGGGGACAAGAATTTCAGAAGGTGAATGCTTTCGAACTTGACATCTGTCTTCTAAGAGTCTTGATTTTAATATCTTTGAGGCTTCTGATGTGCTTTTAGGCAATTGTGTTTAAAACAACAGCAACAACAACAACAAAACCTTTTCCTGTATGTACCATTAATGGGGGGTGATGAATTGAATGAAGGATATTGGGCGAAGAAGATCAAGAGAATGGATCCTTTCAACAACAAAAAACATACTTAGTTGCTATAGTAACTTGAACTACAGAAGCTTGTTGAAAATGTGGAGTTTGATGTGTTTTTGAAATGGATTTTTCTAAAGATTTTTTTCAGATATTTTTATATCAGATTACTACTGAAGCCATTCTCTGAAGTTGTTTGAAAGGACAGATAAAAGAATGAATAAATTAATGAATATTTTAAAATTTTCAGAATGGTCATTTATGAAACACTTAACACTTCTAGAATAAATAATTCTAGAAGAGTAACTTAGTTCCAAAACGCAGATACAGCGCTACTCTTTGTAAATGATTTGACAGTTACTGAGTTAAGATATACACGACAAGGTTAATTTTAAATTTAAAGCATGTATGAAACACACAAGGATTATGATTCCATTTGTTAAACTACATTTCCGTTTTTTTTTCTGTTTCTTGCAAACTCAAAATAATGTTAAATTGTTAAATAGAAGTAGGATAATGTAGTGGACACTTATTGTTAACTGCCCGTTTCACGTGTGGTTTCAGGGTTGTACTCTTTCTGTGAGTGGCACAGGATCTCGCATGAGCCAGCTGGTTTATTCCTGGCTGCCTACATGTGCATAGTGCTTGACTGGTTTATAATGCATCCCTGTATTTTCTTCAGAAGACTTAATGAAGTAGCCAGCTGCAGAAGAATCTGGATCATTAGATAAAAATGGCTTTCCATGTGGAAGGACTGATAGCTATCATCGTGTTCTACCTTCTAATTTTGCTGGTTGGAATATGGGCTGCCTGGAGAACCAAAAACAGTGGCAGCGCAGAAGAGCGCAGCGAAGCCATCATAGTTGGTGGCCGAGGTATTGGTTTATTGGTTGGTGGATTTACCATGACAGGTACGTTCAGACGCCGCCGGCTCCATGCAGTCCTCCCTTCCTTGGCATCTGTGAGTGTGCAGCGTGTGGCTTCAGAGTGACAAAGCAAATGTTGGTCTTTGTCCTTTGGGGATTCTTTATGTTCACTAGTTATATATATTTTAAAATAATTTTCTATTGATTTAAAACCTAAAAATAAATTGGTTTCAACTCAGTAGTACTTGAACAAAAATGATTTTATAATAAATCACTGGACTGAACAGTCATGAAACAAATCTTGGCTCCCTGGGCTATTGAGTGGGTGGAAACAGAGTAAAAACAAAGAGGTGGGGGAATGGGAAGCTGTCCTAGTATTACAAGCTATGTATCTGCTAATTAATGTGATAGGCAGCATCTCAACGTGTCCGGTAATACATGCATAAAGTTGTGACTTTGAGATTTAAATAAGTGCCAATGAATACCATCTAGTGATGGTTTTTAATCTGCATAAATAAATTTGGGGGTGATGATATTCCCAATTGAGTGATTCCCTGTTTTGAAACCTAATTCTTTCATTTAATAACTAATTCCTCACAGGAAGACAATCACATGTTATGAGTCCACAGCACTAATAAAGAGATTTCATGAACCTTGTTATAAAAGGGAAAAGCTAGGGTGTGTCCTCATAGGAATCCCCAGGCCACCATCTGCAGTCATCTCTCATTCAAACCTTCTTTGTGTTAGCAGGAGCTGATATTCTTTCTTACTTTGCACTAAAGTGGTTCTGTTTAAAGGGTGATTTGTTTCTTTTTTATATTCTTCTTGGTCGTTGAAAATAATTCTGAAAAACATCAACTTAGAATTATATGTTTAATATTTAATACAGTTGCACTAACAACACATATTTCATTATACAGTCTTAGTAGAGTTTTTAAACATTTGCAACATAGCAAGAACTGTGAGCGTTCATTGGAAAAATATCCCATGGGAAATGATATCAAGTGATGCCCAATTTCAGTCCCGAAGGGCAATTTTAAAATGATTCACCGTGTATATCAGATAGTTTACCAAACCAGTCTGGGGAGAGGCCATTCATGTTCTGAACCCCTTGACTTTGGCAATCTGAAACTTACAGTGTTCTATGTGAGCCATCAGTTTTATCTTTCAGACATTGACATTTTATCTTTGTTTAACTCTTCATCTACTGTACGTGGACTCATTTGGTCTTTATAACGGCATTATGATGAGCATCTGGGGTTAAGTGGAGATCCCGGGTTACAAGGTTAACAAGGACCAGGGCTGGAGCCAGAACCAAACACAGGTCTCCGGTAACTTAGTTCCAAAATGCAAGTACTGCGTCATGCTGGTGACCGCCCCATGCTGTGCCACATGCAGCCCTGTAACTAGTTTCACTTTATTTCTTTCAAAAGGTGCACAGTTTGTAAACACTGCAGAAAGAATAAGAAAGCTGCTGCATATCAAAATATGTTGTTTATTGAAAATAATTATAGCCCTCTACTATTCTCATTTAATATTCTGTTTAATATGGTCATAAAAATAATATTTTATATTTTGTTTTTACCATTTAGAATGGTTTTTTTCAACCTAACAAGCTATTAAAAGGTACGGAAAATATTTGAATCATGCTATTTTTTATAAAGGGCCATGATCTTCCTCAGTTCGTAAAACTTTTTTTTCTTTCTCAGAACTCAAAATAACCTTGGTCAATATCATAATTCATTTAAAATCTGAACCATACTACCTAACCTTGTCAGATTGATTGACTTGGATATATTTTATAAAGAATAGAGATAAAAAATGTTGATTCTTTTAAAAATGAATATATTTTAAGAGGTTGTGTTCTCACTCATGGATCTGACACAAAATATACAAACAAGGAGAGCAAATACTGTTATAGAAGAGACTAAATTCAATTATAAAGGGGACTTTTAAATCTTAGTAAGTAGCCAAGCCCTCACTTCTATATCACAATAGTTGCAATGATTCAGTCACCAATTTTCTTTTTGGACAAGGGACAGTAGACTTACACAATG
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Task1_train_3919
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The gene SLC5A7 (solute carrier family 5 member 7) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Congenital myasthenic syndrome 20
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TATATGCACTCCTGTCAGCAGTGGATCTCAACCAAGGTGCATGCTGACATCATCTGGGGAATGGTGGGGAGATCTTTTAAAAATACGGATATGTGGCCTACTTCACAGGAATTTTATTTTAATAACTGAAGATAGAGATGGGCACTAGTGTTCTTTTAAAACCCCTAGGTGAGTTGAGAGCCAGAGTTGAGAGTCACAGGCTTAGAGACGTTTACCTGTCATCCTCATGACCTCCCTAAAGATCACTTTGAACTTGAGATTTCTGCTTTACACCTTTAGTAGTTTTTAATTAGGGGTTTTCTTTCTTGAAGAAAGTGATGGATAAGCATTTAGGTCAAGACAAACAAACAAAGTCACTTAGAGAATAACTTATTAAAAAATGGTTTTGAAAAAAGAGCATTATGAAATGTTTATCTCCCTGTTAGCCTCTATGTAGAACATGTTCAAAAGCTCACCTTTAATTTAATTAAATGTATTAATTACTCCTGACCTTTATGTTCCGGTGCTGTAACTTTTAAGAGCACTTAATGAAAATACATCATGTTAATCCAAATTCAAAGGCATCTTCTACGTAGAGGTAATAAAATAGATTAAAGTTCACCTTTTGTCCTGTGGTATTCTGTAAAGGTGATCCAGGGTGATGTTCCTACAGCAACTTTGACTTTCGATTAGTAGAGTCTTTTATTGGATTGTTTAACTTTTAGGAGAGCAGTCCTGGTTCATAGTGTACACTCTCCATTCCAGTTGTTCATCCAGGAGACAGACACTTCAAAAATGTAAAGATGACTGACGAAGGTGGTATGTAGTGTTTGTCTCTGAAAAAAAAAAAGATAGTATTTCTCTCACAAGCAGAAAACATATATGGACGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTTTATTGTAGGAACACAGGCTAACAGAAACAGCATTAAGCCTATTTTTTCTTGGATTAGATACACATTCTTGTTTGTTATTTCTGTTATCATAAAATCTCAGTTAAGGCCACAAAGTTGCCTGCATGTAAGCAGGCTTTGGTGACAATTGTAATAGAAAATGAGGGAAGAAAAAATGGTAGGATCCAAAGAGAACAATTCCTATTTGGTCCAATGATCATGATATTAAAAAAGTTCAGCAAATAAAAAGCCGACTATGCTAATGAACATTTAAGGATTCCATAGTTCTTCAACACATGCTACAACTAACCAGTAAAGAAGCTATGTATTCAAAGATAAATCTGTGTTTCAAGTCTTCTTACCCTACCCACAACCAAAACTTCCTGAAAATTTCAGCCACATGACTGTAATTTTTATTCAATAAAAAGGGACTGTTCTTAACCTAGTGAAATTCTATGCAATGTGGAAATAGGAGAAAAGTAATGCTGAGGCAGCTTCAAAACCAAGTTTATGTACAGAGAGATGATGGCTGAGAATAGCCCTACTATTGTCTTTCTTCATTTACACATGAATAACTGAGCCTTAAAGAAGAAACAGTGAGTGTCCCACCACATTTCCAAGTGGTTGAAGGAATACTCTAGAATTCTGTTTATGAGAGTTTGTTTTCTATGATTCTAGGCAATGTAACACCATCATTGCAGAAAGGAAATATATATCTTACCACCAGTGTCTGTGCAGGCATTGTGAATAACACTAACTATAACCAATACCTTTTAGAAGCCAAGAGATATAAGACATTTCCACTTGACCAGCACATGGACTTCACACCAGACTAATGTATATGATTCTGAGTTTATTTCAAAACAACCTAGTAAATAGGATGACCCCAGATGGATAAAGAACATTTGGTTCCTTGGTGGTTATAATGGTTGTTGATTCTGTTCAACAGACTGGAACCAGACTGCATATGGGCTTCCAGATCCCAAGACTACAGAAGAGGCAGACATGATTTTACCAATTGTTCTGCAGTATCTCTGCCCTGTGTATATTTCTTTCTTTGGTCTTGGTGCAGTTTCTGCTGCTGTTATGTCATCAGCAGATTCTTCCATCTTGTCAGCAAGTTCCATGTTTGCACGGAACATCTACCAGCTTTCCTTCAGACAAAATGTAAGAACAGTTTCTTTCAACCTGACATTTACTAGCATTGCTCTTGCTGCTTCTGATGTTGTATTTGTTGTATATACAGTATTATATATTTATTAATATTCTATGTTAAATCTGACTGTACTTTAAGCATACGAGATTAAATAACAAATTATACCTATGCTGAATGGATGCTATCAGTACCTGTTCTTATTCATGTCAATACTAAAGGGAACAAATCAATATAATTATTTCCCAAGAGGTACAGTCACAGGGCTATCATTTAACCTTTTTGTCTTTCTGATGAAAGAGTAATGAAACCTAAACTATTCAGCAAAACTTTTAGTATAATTAAATTCTCTATGACACTGGAAAATCTTGGTGGAAGCAGGGCATGGTAAGTTGTTCGACACGTATTTTTGTAACTTCTGAACTGTTTTATACTTGCACTCCAAAGTCCACCTTTGCAGGAAGATATCCTCTCAATTTGATTTTCTTTATTGAATCAAAGTGGCTGCAAAACAGCATGCTTCTTGGTTGATTAAAGCTTTTCCTCTCTCTAGGTTTTAGTTAACAAAACAATCCCAGTGTTTTTGCTTTTGCTTTGTTTTGTTTTGATTTTATTTGATTTTTTTTAATTAACCAAAGGAACTCCTTGAACAAGGCATTTTCTTTTTGTTTTTAATTTTACTTTAAGTTCTGGGATACTTGTGCAGAACGTGCAGGTTTGTTACATAAGTGTATGTGTGCCATGGTGGTTTGCTGCACCTATTGACCCGTCCTCTAAGTTCCTTCCTTGCACCACCCCCCACGCCCCCCAACAGGTCCCAGTGTGTGTTGCTCCCTCCCTGTATCCATGTGTTCTCATTGTTCAACTCCCACTTATGAGTGAGACCATGTGGTGTTTGGTTTTCTGTTCCTGTGCTAGTTTGCTGAGGATGATGGCTTCCACCTTCATCCATGTCTCTGCAAAGGAATGATCTTATTCCTTTTTATGGCCACATAGTATTCCATGGTATACATGTGCCACATTTTCTTTATCCAGTCTATCACTGATGGGCATTTGGGTTGGTTCCATGACTTTGTTATTGTAAATAGTGCTGCAATAAACGTATGTGTGCATGTGTCTTTTCAAGAGCACCAGAAGGTGGTTAGTTTAAGGATGGTAGCACTTCTACAAAGAGATAAACTAGGGATGGCCTATGCTCTGTCAATGCCACATAAGAACTGTTCCCTAATATGTAAAGTGAGGAAATCTTCCCTTGCTTTATTATACCTCCCTGACACCATGTTAGCTCATCCTGCCTTTGCCCCTGTGCATTCAGGAAAAGGCTCAGGTGGCCTGTGTGTCATGCATCTGGTACACAGAAACCCCTCCCAAAGGTCCACCCAGGAAGTCACCTTGATTGTTTGCTTTGGGTGCTGTAGCTGTAGTTGGTTTTTCCCATAGATTGAGCCATTTGAACCAGGAGAATTCTTTAGACCAGTTTTGAAGCAAAAAATATGTCTCATTCTTTGCCTAAATGAGCCAAGACACTGTGCAAAAAGCTGACACTGTGGCAATTTCTTACAGGCTTCGGACAAAGAAATCGTTTGGGTTATGCGAATCACAGTGTTTGTGTTTGGAGCATCTGCAACAGCCATGGCCTTGCTGACGAAAACTGTGTATGGGCTCTGGTACCTCAGTTCTGACCTTGTTTACATCGTTATCTTCCCCCAGCTGCTTTGTGTACTCTTTGTTAAGGGAACCAACACCTATGGGGCCGTGGCAGGTTATGTTTCTGGCCTCTTCCTGAGAATAACTGGAGGGGAGCCATATCTGTATCTTCAGCCCTTGATCTTCTACCCTGGCTATTACCCTGATGATAATGGTATATATAATCAGAAATTTCCATTTAAAACACTTGCCATGGTTACATCATTCTTAACCAACATTTGCATCTCCTATCTAGCCAAGTATCTATTTGAAAGTGGAACCTTGCCACCTAAATTAGATGTATTTGATGCTGTTGTTGCAAGACACAGTGAAGAAAACATGGA
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TATATGCACTCCTGTCAGCAGTGGATCTCAACCAAGGTGCATGCTGACATCATCTGGGGAATGGTGGGGAGATCTTTTAAAAATACGGATATGTGGCCTACTTCACAGGAATTTTATTTTAATAACTGAAGATAGAGATGGGCACTAGTGTTCTTTTAAAACCCCTAGGTGAGTTGAGAGCCAGAGTTGAGAGTCACAGGCTTAGAGACGTTTACCTGTCATCCTCATGACCTCCCTAAAGATCACTTTGAACTTGAGATTTCTGCTTTACACCTTTAGTAGTTTTTAATTAGGGGTTTTCTTTCTTGAAGAAAGTGATGGATAAGCATTTAGGTCAAGACAAACAAACAAAGTCACTTAGAGAATAACTTATTAAAAAATGGTTTTGAAAAAAGAGCATTATGAAATGTTTATCTCCCTGTTAGCCTCTATGTAGAACATGTTCAAAAGCTCACCTTTAATTTAATTAAATGTATTAATTACTCCTGACCTTTATGTTCCGGTGCTGTAACTTTTAAGAGCACTTAATGAAAATACATCATGTTAATCCAAATTCAAAGGCATCTTCTACGTAGAGGTAATAAAATAGATTAAAGTTCACCTTTTGTCCTGTGGTATTCTGTAAAGGTGATCCAGGGTGATGTTCCTACAGCAACTTTGACTTTCGATTAGTAGAGTCTTTTATTGGATTGTTTAACTTTTAGGAGAGCAGTCCTGGTTCATAGTGTACACTCTCCATTCCAGTTGTTCATCCAGGAGACAGACACTTCAAAAATGTAAAGATGACTGACGAAGGTGGTATGTAGTGTTTGTCTCTGAAAAAAAAAAAGATAGTATTTCTCTCACAAGCAGAAAACATATATGGACGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTTTATTGTAGGAACACAGGCTAACAGAAACAGCATTAAGCCTATTTTTTCTTGGATTAGATACACATTCTTGTTTGTTATTTCTGTTATCATAAAATCTCAGTTAAGGCCACAAAGTTGCCTGCATGTAAGCAGGCTTTGGTGACAATTGTAATAGAAAATGAGGGAAGAAAAAATGGTAGGATCCAAAGAGAACAATTCCTATTTGGTCCAATGATCATGATATTAAAAAAGTTCAGCAAATAAAAAGCCGACTATGCTAATGAACATTTAAGGATTCCATAGTTCTTCAACACATGCTACAACTAACCAGTAAAGAAGCTATGTATTCAAAGATAAATCTGTGTTTCAAGTCTTCTTACCCTACCCACAACCAAAACTTCCTGAAAATTTCAGCCACATGACTGTAATTTTTATTCAATAAAAAGGGACTGTTCTTAACCTAGTGAAATTCTATGCAATGTGGAAATAGGAGAAAAGTAATGCTGAGGCAGCTTCAAAACCAAGTTTATGTACAGAGAGATGATGGCTGAGAATAGCCCTACTATTGTCTTTCTTCATTTACACATGAATAACTGAGCCTTAAAGAAGAAACAGTGAGTGTCCCACCACATTTCCAAGTGGTTGAAGGAATACTCTAGAATTCTGTTTATGAGAGTTTGTTTTCTATGATTCTAGGCAATGTAACACCATCATTGCAGAAAGGAAATATATATCTTACCACCAGTGTCTGTGCAGGCATTGTGAATAACACTAACTATAACCAATACCTTTTAGAAGCCAAGAGATATAAGACATTTCCACTTGACCAGCACATGGACTTCACACCAGACTAATGTATATGATTCTGAGTTTATTTCAAAACAACCTAGTAAATAGGATGACCCCAGATGGATAAAGAACATTTGGTTCCTTGGTGGTTATAATGGTTGTTGATTCTGTTCAACAGACTGGAACCAGACTGCATATGGGCTTCCAGATCCCAAGACTACAGAAGAGGCAGACATGATTTTACCAATTGTTCTGCAGTATCTCTGCCCTGTGTATATTTCTTTCTTTGGTCTTGGTGCAGTTTCTGCTGCTGTTATGTCATCAGCAGATTCTTCCATCTTGTCAGCAAGTTCCATGTTTGCACAGAACATCTACCAGCTTTCCTTCAGACAAAATGTAAGAACAGTTTCTTTCAACCTGACATTTACTAGCATTGCTCTTGCTGCTTCTGATGTTGTATTTGTTGTATATACAGTATTATATATTTATTAATATTCTATGTTAAATCTGACTGTACTTTAAGCATACGAGATTAAATAACAAATTATACCTATGCTGAATGGATGCTATCAGTACCTGTTCTTATTCATGTCAATACTAAAGGGAACAAATCAATATAATTATTTCCCAAGAGGTACAGTCACAGGGCTATCATTTAACCTTTTTGTCTTTCTGATGAAAGAGTAATGAAACCTAAACTATTCAGCAAAACTTTTAGTATAATTAAATTCTCTATGACACTGGAAAATCTTGGTGGAAGCAGGGCATGGTAAGTTGTTCGACACGTATTTTTGTAACTTCTGAACTGTTTTATACTTGCACTCCAAAGTCCACCTTTGCAGGAAGATATCCTCTCAATTTGATTTTCTTTATTGAATCAAAGTGGCTGCAAAACAGCATGCTTCTTGGTTGATTAAAGCTTTTCCTCTCTCTAGGTTTTAGTTAACAAAACAATCCCAGTGTTTTTGCTTTTGCTTTGTTTTGTTTTGATTTTATTTGATTTTTTTTAATTAACCAAAGGAACTCCTTGAACAAGGCATTTTCTTTTTGTTTTTAATTTTACTTTAAGTTCTGGGATACTTGTGCAGAACGTGCAGGTTTGTTACATAAGTGTATGTGTGCCATGGTGGTTTGCTGCACCTATTGACCCGTCCTCTAAGTTCCTTCCTTGCACCACCCCCCACGCCCCCCAACAGGTCCCAGTGTGTGTTGCTCCCTCCCTGTATCCATGTGTTCTCATTGTTCAACTCCCACTTATGAGTGAGACCATGTGGTGTTTGGTTTTCTGTTCCTGTGCTAGTTTGCTGAGGATGATGGCTTCCACCTTCATCCATGTCTCTGCAAAGGAATGATCTTATTCCTTTTTATGGCCACATAGTATTCCATGGTATACATGTGCCACATTTTCTTTATCCAGTCTATCACTGATGGGCATTTGGGTTGGTTCCATGACTTTGTTATTGTAAATAGTGCTGCAATAAACGTATGTGTGCATGTGTCTTTTCAAGAGCACCAGAAGGTGGTTAGTTTAAGGATGGTAGCACTTCTACAAAGAGATAAACTAGGGATGGCCTATGCTCTGTCAATGCCACATAAGAACTGTTCCCTAATATGTAAAGTGAGGAAATCTTCCCTTGCTTTATTATACCTCCCTGACACCATGTTAGCTCATCCTGCCTTTGCCCCTGTGCATTCAGGAAAAGGCTCAGGTGGCCTGTGTGTCATGCATCTGGTACACAGAAACCCCTCCCAAAGGTCCACCCAGGAAGTCACCTTGATTGTTTGCTTTGGGTGCTGTAGCTGTAGTTGGTTTTTCCCATAGATTGAGCCATTTGAACCAGGAGAATTCTTTAGACCAGTTTTGAAGCAAAAAATATGTCTCATTCTTTGCCTAAATGAGCCAAGACACTGTGCAAAAAGCTGACACTGTGGCAATTTCTTACAGGCTTCGGACAAAGAAATCGTTTGGGTTATGCGAATCACAGTGTTTGTGTTTGGAGCATCTGCAACAGCCATGGCCTTGCTGACGAAAACTGTGTATGGGCTCTGGTACCTCAGTTCTGACCTTGTTTACATCGTTATCTTCCCCCAGCTGCTTTGTGTACTCTTTGTTAAGGGAACCAACACCTATGGGGCCGTGGCAGGTTATGTTTCTGGCCTCTTCCTGAGAATAACTGGAGGGGAGCCATATCTGTATCTTCAGCCCTTGATCTTCTACCCTGGCTATTACCCTGATGATAATGGTATATATAATCAGAAATTTCCATTTAAAACACTTGCCATGGTTACATCATTCTTAACCAACATTTGCATCTCCTATCTAGCCAAGTATCTATTTGAAAGTGGAACCTTGCCACCTAAATTAGATGTATTTGATGCTGTTGTTGCAAGACACAGTGAAGAAAACATGGA
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Task1_train_3920
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This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
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ACAGCCACCCCACTCTTTCGCTGAAAACATTCTGAGGAGGGTGCAAGCTGTTATCCTGGAATGGCACACTCATCACAAGTGACATTTGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATA
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ACAGCCACCCCACTCTTTCGCTGAAAACATTCTGAGGAGGGTGCAAGCTGTTATCCTGGAATGGCACACTCATCACAAGTGACATTTGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCCCTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATA
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Task1_train_3921
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This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
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TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGGCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
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Task1_train_3922
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A sequence alteration has been identified in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it disease-inducing or harmless?
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
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TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGGCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
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Task1_train_3923
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This alteration occurs within gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
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TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGTCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
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Task1_train_3924
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This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
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TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGTCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAA
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Task1_train_3925
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A variant has been detected on Chromosome 2 in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGA
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CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCATGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGA
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Task1_train_3926
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A variant was discovered on Chromosome 2, affecting EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGA
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CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCATGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGA
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Task1_train_3927
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The gene RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
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CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
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CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCTGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
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Task1_train_3928
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This sequence change occurs on Chromosome 2, altering RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
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CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCTGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
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Task1_train_3929
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With a mutation on Chromosome 2 in gene RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
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CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCTGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGT
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Task1_train_3930
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Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGC
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AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGTGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGC
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Task1_train_3931
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This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGC
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AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGTGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGC
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Task1_train_3932
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Here is a mutation in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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AATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAA
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AATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGTGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAA
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Task1_train_3933
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The gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
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CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTTGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
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Task1_train_3934
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Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
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CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTTGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
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Task1_train_3935
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This sequence variant lies in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTCGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
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CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAATAATATGCCAAGAACAATGCCAGTTTATTAACTTTCTGCCTATAAATGTTATGTCAAACCATTGCAGTTATTGTGAAAATGCCAAGTCTGAGTTTTTCTGTTTTTATTCCCATTTAAATGGACAAACCACACTGTGTTGACTTCCATAGAGCACCTCAAAGGCCTGGCATTTCCTATAGCTCCACTTTCTTTTTGCTCACCTGAACCCTACCTGCCCCAATTATAGAATCACTAACTAACATCTCATTGGCAGACGAGAAACTGAGGCAGAGAGAGGAAAAGACAAGGCCCAAGGTGGCACAACTAGAAGCCAGCTCCCTCGACATCAAGCCCAGGCTCTCATTTGCGCTGCAGAACTCCACTTTCCCTGACTGGCTCAGAAGGCTGAGTCTGAAACTCTCATGCCATGAGGCTAATCCACAAGTCTTAGATGCTCTTGAAATCTAGAATTATGCGTGGCTGAACTCTTAGGAAGTCATCATTTCTCTAATTACAGCTGACTACTCATACATGTTTGAAGTGAAAACACAGCCTGACACATTATAATTTAAATTGCTGTGTCCTTCAGCATTGCTGCCCCTAAAAGGTCAAATCTGCCTAAGACTGAAGTGGAAGGCCATTCACATGTAGTGCAGACCACAGGGTTCCCAGGCCAAAGAGTAATGCAGTAAATGAAATTGGCTACTGCACACATCCAATTGCTTGGACAAACACATGCCTTGCATATTGGTTTTGTATAGAGTGAGCTCTTCCATTATTGACTGGAAGGCCTGTAAGAATATGGATGACCTCAAGGATAGGTAAAAAGTTATCCTAATGAAACCACATAGGGTATTAACAGACTTGTACTAAACCTGAAATAATACCTGGAGCAGGGTGTCTGCATTTTGTTGCCATTTTATCAAAATGTTTGAGCTGCTTCTTCACTAGGATGCCATCCTTCATCATCCCAGTAGGGAGTCATCTCCCGCTTAGAACTTCTATTAACGTTTTCTAAGCGCCCCTTCATTCAGCTTGTTTGACGTCTTCCAGTGAAGTGGTTTGTAAACATACGTTCCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCACTTCTGTCATTCCCACGGGGTTTGATTCATTTGAGTCCTCAACATTGTCTCATTGTTCAGTGAGTTAATGGTGGGCTGGTGGGCTGGCTGTATGAGTGAGTAGATATTTACTCTGCCTGGTGAGGTACAGGCGAGCATCTGAAAGTATCCCGGCTCTAGTCCTTTATCTTTGGTTAAATTGGAAGACAGGCCTTATTTCGTCTGGCTCCTTGAACATCCTAAGGCATACGGTGACATATCACAAAAGCCTTGATTCTTGGCAGTCTTTTGGCACCACTCACAGCTCCAGAGCCCTCGTTGGCTCCTTGGCTTGTCCTGGGAGGACAGCCCACAGGCATGCTTTTCAGGATGCAGCATGTGGCTGGGAGGCAGGTGGCACAACCCCCGCCCACTCCAGTATGTCTGCACACAAGGACTCCACAGCATCCAGCCGCTCAATCTGCACCAGTTTTGTGAGTAGCTCAGGGATGCTGTAGCCTGCCGTGCTGATGCGGTCAAAGAGTTGCATGCCGTCTGTCATGCCCCCAATCTCATCCCTCTTCAGGCCGAAGCTCTCGGCGAGGTGGCGCCACGTTTTCACAACAGCCTTCTCAGAGTTGTACGTGGAGCTGAGCATTTGGCTAGTCTTCTCGAGGCAATCAAATGGCAGCTCCGTGGGGCTAAGACCTACAGACACCAATGGCCACAGTTAGATGTTGCAAGTCACAGTCAATAGAAGGTCAACACTGAAAAATTATTTAAATGAAATAAAAATTATTTGAAAAAAATTTTTTTAAAATTATAAAACATGCAGAAAGCCACCTAAAACAAATGCATAACTTAAGGCAAACGACACCTAGAACGCTGCCAGCCACAAGAGAGGGCTGTGCATGTACCCTGACCCCGGTAATAGCCCCTTCCCCACTAGGAAAATGACTGCTATATTGACAATGATAATAATTCCCTCATGACCATTTTTAGCAGTTCTCAAAGACTTCAAGACAAGTTATCCTTAGTTGGGTAACCCTGTCTCCCATGGGGCTGGGCTGAGGAGGGGTTCAAAGGGACAGTGTCATGTCTCTTTAGGGAACAGTAGTCAACTTTGTGATGGCTGCTCTCAATGATAGCCCCAGATTGGGGTTATCTGAACCAAGTCACTGCCAACTCAGTGGTCTGATGGTTCTTGGGCTTCACTGTACATTAGACTCACCTAGGAGCATTTAAAAACTTGATATTGCTGTTTCTGGAAGATAAGAGTAGATATAATTTTCCCTAATCCTCCCACTAAGTACAGCTAAAAGCCCTGGACATTCTGTGTAAAACAAATACAAGAAGTCTGAAAAGTGGAGAAAAGAAGACAGACCAACTAGGGACCTCGATACCTTAGGATGGTGATGGTGGTAAGTTCCCTGGGTTTTCTTTTGCCTCATAAATTCCAGACATGGGGCAGAAAAGTCCAAAAATCTGGAAATAATAGCAACCACAGACAAAAACAGCCCCAACAAAAGTCTTCTGTCTCTAGTCAGAGCACTAGGAAAAGAGCAGCCTAGCAAGCATAAAACATTTAGACAATAATTGCTCTATTCCAGCCAAACATCACAGAAAAACTGTGTCCCCACTCTATCCAGGGTAGCAAAGGCTGAGTGGGGAGCCTAGAATTCCACCCTCACCAGGCTGTAACACTGTGCCAGGTGGTGTCAGGAAAGGCCATGTAGGGAGCTGGGGCTTTCTCATCAACCAGCTGGTAAAAACTCCTCTGCCCCCGTGGTGACCATGTCAGTAGCCATACTCCCAAACCCCAAGTAGCAGTAAAAAGGAATCCCCCTTGAGTGTTAGTGAAGGTTGAGTGGGGAATTTGGATGTCTACCTTCACCCAACAGTAGCAAGACAGCACCCTCATTCTCCTGCCACAGAGCTATCAAAAGGAGCCAGCTAAAATAGAAGGCTTAAATAAGACCCAGAGTTTCATATCAGGACATAAAACTACACAGGTCTCAAAGTGAATTCACTCATCATACCAAGAACCAAGAAGATGTCAAATGAGTAAAAAAAGAAAATCAATAGATGCTAACACTGAGATGACAGATGTTAGATAATCTGAAAAAGGTTTTAAAGAATTCATAATAAAAGTGCTTCAACAAGCAATTATGAACATGCTTAAATGCAAAAATAGAAATCCTCAGGAAAAATAATAGAAAATGTAAAAAAGAAATGAAAATATTAGAACTACAAAAGTACAATAACCACAATAAAAAGCTCAGTAGATGTGCTCAATGACAGAGTAAGACAGAGGAAAGAATCAGTGAGATGGATAATGGAAACTAGAAGTGGAAATTACTCAATCAGAGAAAATAAACTGAAAAACACAGAGCCTTAGGGAACTGTGGAGTTATAACAGAAGAGCTAACATTTGTGTCAAGAAGTTTCAGAAGGAGAGGAGAAGAGAGTGGGACTAAATAAATACTCAAATAAATGATGGTTTAGAACTCTCCAAATTTGTAAAGAGACGTAAGTCTACAGATTCAAGAAGATAAGCAAATCCCAAACAGGATAAACCCAAATATATTCATGTCAAGATACATCATAAATGAACTTCTGAAAACTAAAGACAAAGTCTTAGAAACAGCCAAAGAAAAACAACGCCTGACCTAGAGAGGGAAAAGAATTAGAATGACAGTAGACTTAT
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Task1_train_3936
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A genomic change on Chromosome 2 affects EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
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CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCCTCACAGGAGCCTCAGGGCTCCGGGCCCAGCCCTTCATGTCGGTGGGGTGGGCACCACCTCTCCCAGGCTTTTTTTTCAGCTTACCTTCCACGACTCCACACACGTTGGCATACACATCGAGGATCTTTTTCCTCCGGCTTTGAATCTGTGAAAAAGAGTCGAGAATTTTCATCTCCAGAAAGGGGCAACAGTAGAAAGGAGGCAAATCCTCCATGTCAGCAGGGGCAGGCAGCAGCTACGCCCAACACCAGAGACGCTGCACACAGCCCCCGTGTCAGCAGCCCAGCCCTGACACACAGGGAGGAGGGCCTTCTTCAGGTTTTCCTATTCAAACATTTTTGGGGTCTACCACGGGTGCGTCTTAGGCTCAGCTGGGTGGTCAGACTCGTAAGATACTTGGGGACACCCCTGGCATCAGTCTGTTTGAAAAGATGACCATGGGGACCCCCACTTGCCCTCAGGACATCTGTGCTGCAGCAGAGCCGTGCGGGGCTCCCATCCCGGATCACGTGGCTGGTGCCAGGAGACCAGGCCCACGGTGCACAGCTGCTCAGTGGCCCTGGCTGAAGAGTCCCGGGGCCATGGCCACCTATCTCCCTTGTAACAACCCCACAGGCTTCCAGGGTCTCTGCAAGTGGCAGCCCCATTACAGAGGTCACTGAACTCGGGGCAGGCAGAGCTTGGCATCCTATCAGGACCAGGCTGGAGCCAGGATCCCAACTGGGCATTTTTGCCATCAGTGATGTTGCCTAGCAACACAGCTGTCCTGCGGCTGGGGCCTGCAGCCAGGGGCACAGGCTAGAGGGACGACCACAGGCCAGGTCTACAGGGAGCCCAAGAGGGCTCTGGCCACCTTTGCCCTCACCCCTGCCCTGCTCCTGGCCACAGCACATTACAGGGCGGTAGGTGATAAAACCCTGGGGACAGTTTCTACATGTGAACCTGTTTTTATATTTTTAAAAATGCATAGAAGAAAAACGTTGTGTGTGTGTGTGTCTAGAAAATTGTCTGGTTAGATAAAACCCCGTATATTTACAAGGGTCTTTTTCTGCCCTCTGGCATTCCAAGTGATTTTACCTTTTTTCTCCTTGCTTATTATTTTTCGTTTTTGTGTATGAAGCTATATAATAAAAACAAAGTGGCTGGGCGTGGTAGCTCACACCTGTAATCCTAGTGCTTTGGAAGGCCGAGGCGGGTGGATTGCCTGAACTCAGGAGTTTGAGAGCAGCCTGGGCAACACAGTGAAACCTCGTCTCTACTAAAATATAAAAAAAATTAGCTGGGTGTGGCAGCGTGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCGCACCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCTCATCTCCAAAAAAAAAAAACAAAACTCAAAAACGAAAGGGTTTTTTTCCCTTTTGACTATCTTGCTGTGAACTTGTCACTGTCCAGGTCTCCTATCTTGGACTTCTGGGAGAAACACCCCGTCTTGCAGGAGAGCTGATTCAATAAGAAAGTTTTAGTCTTGCGGCTGTGAGGGAGCCACATCTCACAGCTCATCATGGCACCTGCAGGAGCCTCACCCCGGCTGACTTGTTGCTGGTGGCAGACTTCTCCCTGGCCAGGTGAACCAGCGACAGCAGGCACAGCTCCGGGGAGCCCTGCTTGTCAGGGGCGGGCTCCTCATCACTGTCGACGCTCCGGCTCAGCAGCTGCTCATTCTCGGATGAGGCATCGTTCTCGCTGCAAAAACAAGAGCGATGGTCATTAGCAGTGCCTGGGGGGGCTGCAGCCCTGACAAGTTCTCCTGTGGTGAACTTGTCCATTGCCCAGCTGTGGACAGTGGGGGGCAATGACTTGTTTTTCAGGTGTTTACTGGGCACCTTGTGGGCACGGGACCAGGGGACATGAGACGAGACATACACCGGTGGCTTCCTGCTTCTTTCCAAACAAACAAGTCCGTGGTGGGTGACCTGCAGGCGTCTAAGGGGCTGGGGCTGCCACTGCGTGTGGGAGGCATCCACGGGCCTCTCCTTCCCTGCTACCTGACACACAATGGATGCTCCGTGAAGGTTCATTGAATATGTCCTAGATCTCTGTATTTAATCCCAGTAAGCACCAAGTTCAACTGGTGTCTTCATGTTAAGCAAACAGATTGATGCAGCTGGCGCTGAATCCATGCTGGCTCTCTGGAGTCATTGAAAAGGGAGCTGAATGGAGCCTTGTGCCTGGAAAGCCCCCTCTTGACTAGGGGGGTGACCTGGCTGACCTGTGTGCATTGCAGGGGGTGGCACAGCAAGCCCCAGCGGGTGAGCTGGGTGGGCGGTCGGACCCACCAAGCCCAGGTTCATGCCGCCCTGTGGCTCACAGCCCACAAAGAACCCAGGGTCTGCCCTAGGCACATGTGGGTTGGAGCTTAAACTCTCTTAAAACCATTCCAAGTATATGAAAAACAATATTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAAAAGCTCAGTGCCTTGCTGTCTTTTAACGTACAAGTGTCAGGGTTCAATTTGTATTTAATATTCGTGTATGAAAGCAGTATATATTTTTTCCTAATAGGGCCTCCAAATTTTCCCTGTCTTCAACTGCAACTCAAGTCATGGGGCACGTCTCTGCCTTTTTGATTTCTGGGAATAAGAAAAGCCTGAATATCAGAAGGGAGAGGCTGAGACAGAATGAGATAAGGCTGGGCTGGAGGCTGAGGAGCAAATTCAGTCTCTAGGGAGGCCCTATTTAAGAGTTCCATGCAGGGTGACCAGGTCCTGCCCTTGGTCCTGGGAGCAGCAGCTTGGATCTGGCACACAGGATCTCCACACAGATGCTGGATCGATTGGAATGGCTTTGCAAGGTGAATCATAGGAAGATCATGGGGTGGGGGCAGGAGAGGAGGGCTTAACCTCTGCTCTTCCTGTAACCAGTTTGGTGACCTTCTGGTGGCCTCTGTGCCCCATCTGCCAAGGGAGGCACTGTTGCGGGGGTGTCCTTCCAGGCGCAGCCTGCAGTGGCTGTCGGGCAGAGGCCTGGCAGGGGGGTCCGAGCACATTGCCTGGCTGGGAGCTGATGCTGTGGGGTTGATTTTTGGAAGCTACGCAGGACCAAGTCCAAATGACCATCCCACTGGATGAATAAAATATTGACTTCCCTCTACCCTCGATTTTAGAGCAGGGGCTGGTTCCACACCTTCATGTGTGGTAAACGCGGGAAAGGCTTCACCTGCCAAATCTCCTCCTCCAGAGGCCTCTTTACACCATGTGGCTCCTTGGGAGCCTGGACTCGGACCCCAGCCCTGCTGTTCACTAGTGTGTGACCTTGGGCGAGTGACAACTTCCATACCTCAGTGTGGTATCCTATAAACAGGGATGATACAAGCACCTTGCTCCTGGGCTGTGGAGGGAGGATGTGTTCAC
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CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCCTCACAGGAGCCTCAGGGCTCCGGGCCCAGCCCTTCATGTCGGTGGGGTGGGCACCACCTCTCCCAGGCTTTTTTTTCAGCTTACCTTCCACGACTCCACACACGTTGGCATACACATCGAGGATCTTTTTCCTCCGGCTTTGAATCTGTGAAAAAGAGTCGAGAATTTTCATCTCCAGAAAGGGGCAACAGTAGAAAGGAGGCAAATCCTCCATGTCAGCAGGGGCAGGCAGCAGCTACGCCCAACACCAGAGACGCTGCACACAGCCCCCGTGTCAGCAGCCCAGCCCTGACACACAGGGAGGAGGGCCTTCTTCAGGTTTTCCTATTCAAACATTTTTGGGGTCTACCACGGGTGCGTCTTAGGCTCAGCTGGGTGGTCAGACTCGTAAGATACTTGGGGACACCCCTGGCATCAGTCTGTTTGAAAAGATGACCATGGGGACCCCCACTTGCCCTCAGGACATCTGTGCTGCAGCAGAGCCGTGCGGGGCTCCCATCCCGGATCACGTGGCTGGTGCCAGGAGACCAGGCCCACGGTGCACAGCTGCTCAGTGGCCCTGGCTGAAGAGTCCCGGGGCCATGGCCACCTATCTCCCTTGTAACAACCCCACAGGCTTCCAGGGTCTCTGCAAGTGGCAGCCCCATTACAGAGGTCACTGAACTCGGGGCAGGCAGAGCTTGGCATCCTATCAGGACCAGGCTGGAGCCAGGATCCCAACTGGGCATTTTTGCCATCAGTGATGTTGCCTAGCAACACAGCTGTCCTGCGGCTGGGGCCTGCAGCCAGGGGCACAGGCTAGAGGGACGACCACAGGCCAGGTCTACAGGGAGCCCAAGAGGGCTCTGGCCACCTTTGCCCTCACCCCTGCCCTGCTCCTGGCCACAGCACATTACAGGGCGGTAGGTGATAAAACCCTGGGGACAGTTTCTACATGTGAACCTGTTTTTATATTTTTAAAAATGCATAGAAGAAAAACGTTGTGTGTGTGTGTGTCTAGAAAATTGTCTGGTTAGATAAAACCCCGTATATTTACAAGGGTCTTTTTCTGCCCTCTGGCATTCCAAGTGATTTTACCTTTTTTCTCCTTGCTTATTATTTTTCGTTTTTGTGTATGAAGCTATATAATAAAAACAAAGTGGCTGGGCGTGGTAGCTCACACCTGTAATCCTAGTGCTTTGGAAGGCCGAGGCGGGTGGATTGCCTGAACTCAGGAGTTTGAGAGCAGCCTGGGCAACACAGTGAAACCTCGTCTCTACTAAAATATAAAAAAAATTAGCTGGGTGTGGCAGCGTGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCGCACCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCTCATCTCCAAAAAAAAAAAACAAAACTCAAAAACGAAAGGGTTTTTTTCCCTTTTGACTATCTTGCTGTGAACTTGTCACTGTCCAGGTCTCCTATCTTGGACTTCTGGGAGAAACACCCCGTCTTGCAGGAGAGCTGATTCAATAAGAAAGTTTTAGTCTTGCGGCTGTGAGGGAGCCACATCTCACAGCTCATCATGGCACCTGCAGGAGCCTCACCCCGGCTGACTTGTTGCTGGTGGCAGACTTCTCCCTGGCCAGGTGAACCAGCGACAGCAGGCACAGCTCCGGGGAGCCCTGCTTGTCAGGGGTGGGCTCCTCATCACTGTCGACGCTCCGGCTCAGCAGCTGCTCATTCTCGGATGAGGCATCGTTCTCGCTGCAAAAACAAGAGCGATGGTCATTAGCAGTGCCTGGGGGGGCTGCAGCCCTGACAAGTTCTCCTGTGGTGAACTTGTCCATTGCCCAGCTGTGGACAGTGGGGGGCAATGACTTGTTTTTCAGGTGTTTACTGGGCACCTTGTGGGCACGGGACCAGGGGACATGAGACGAGACATACACCGGTGGCTTCCTGCTTCTTTCCAAACAAACAAGTCCGTGGTGGGTGACCTGCAGGCGTCTAAGGGGCTGGGGCTGCCACTGCGTGTGGGAGGCATCCACGGGCCTCTCCTTCCCTGCTACCTGACACACAATGGATGCTCCGTGAAGGTTCATTGAATATGTCCTAGATCTCTGTATTTAATCCCAGTAAGCACCAAGTTCAACTGGTGTCTTCATGTTAAGCAAACAGATTGATGCAGCTGGCGCTGAATCCATGCTGGCTCTCTGGAGTCATTGAAAAGGGAGCTGAATGGAGCCTTGTGCCTGGAAAGCCCCCTCTTGACTAGGGGGGTGACCTGGCTGACCTGTGTGCATTGCAGGGGGTGGCACAGCAAGCCCCAGCGGGTGAGCTGGGTGGGCGGTCGGACCCACCAAGCCCAGGTTCATGCCGCCCTGTGGCTCACAGCCCACAAAGAACCCAGGGTCTGCCCTAGGCACATGTGGGTTGGAGCTTAAACTCTCTTAAAACCATTCCAAGTATATGAAAAACAATATTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAAAAGCTCAGTGCCTTGCTGTCTTTTAACGTACAAGTGTCAGGGTTCAATTTGTATTTAATATTCGTGTATGAAAGCAGTATATATTTTTTCCTAATAGGGCCTCCAAATTTTCCCTGTCTTCAACTGCAACTCAAGTCATGGGGCACGTCTCTGCCTTTTTGATTTCTGGGAATAAGAAAAGCCTGAATATCAGAAGGGAGAGGCTGAGACAGAATGAGATAAGGCTGGGCTGGAGGCTGAGGAGCAAATTCAGTCTCTAGGGAGGCCCTATTTAAGAGTTCCATGCAGGGTGACCAGGTCCTGCCCTTGGTCCTGGGAGCAGCAGCTTGGATCTGGCACACAGGATCTCCACACAGATGCTGGATCGATTGGAATGGCTTTGCAAGGTGAATCATAGGAAGATCATGGGGTGGGGGCAGGAGAGGAGGGCTTAACCTCTGCTCTTCCTGTAACCAGTTTGGTGACCTTCTGGTGGCCTCTGTGCCCCATCTGCCAAGGGAGGCACTGTTGCGGGGGTGTCCTTCCAGGCGCAGCCTGCAGTGGCTGTCGGGCAGAGGCCTGGCAGGGGGGTCCGAGCACATTGCCTGGCTGGGAGCTGATGCTGTGGGGTTGATTTTTGGAAGCTACGCAGGACCAAGTCCAAATGACCATCCCACTGGATGAATAAAATATTGACTTCCCTCTACCCTCGATTTTAGAGCAGGGGCTGGTTCCACACCTTCATGTGTGGTAAACGCGGGAAAGGCTTCACCTGCCAAATCTCCTCCTCCAGAGGCCTCTTTACACCATGTGGCTCCTTGGGAGCCTGGACTCGGACCCCAGCCCTGCTGTTCACTAGTGTGTGACCTTGGGCGAGTGACAACTTCCATACCTCAGTGTGGTATCCTATAAACAGGGATGATACAAGCACCTTGCTCCTGGGCTGTGGAGGGAGGATGTGTTCAC
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Task1_train_3937
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Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCCTCACAGGAGCCTCAGGGCTCCGGGCCCAGCCCTTCATGTCGGTGGGGTGGGCACCACCTCTCCCAGGCTTTTTTTTCAGCTTACCTTCCACGACTCCACACACGTTGGCATACACATCGAGGATCTTTTTCCTCCGGCTTTGAATCTGTGAAAAAGAGTCGAGAATTTTCATCTCCAGAAAGGGGCAACAGTAGAAAGGAGGCAAATCCTCCATGTCAGCAGGGGCAGGCAGCAGCTACGCCCAACACCAGAGACGCTGCACACAGCCCCCGTGTCAGCAGCCCAGCCCTGACACACAGGGAGGAGGGCCTTCTTCAGGTTTTCCTATTCAAACATTTTTGGGGTCTACCACGGGTGCGTCTTAGGCTCAGCTGGGTGGTCAGACTCGTAAGATACTTGGGGACACCCCTGGCATCAGTCTGTTTGAAAAGATGACCATGGGGACCCCCACTTGCCCTCAGGACATCTGTGCTGCAGCAGAGCCGTGCGGGGCTCCCATCCCGGATCACGTGGCTGGTGCCAGGAGACCAGGCCCACGGTGCACAGCTGCTCAGTGGCCCTGGCTGAAGAGTCCCGGGGCCATGGCCACCTATCTCCCTTGTAACAACCCCACAGGCTTCCAGGGTCTCTGCAAGTGGCAGCCCCATTACAGAGGTCACTGAACTCGGGGCAGGCAGAGCTTGGCATCCTATCAGGACCAGGCTGGAGCCAGGATCCCAACTGGGCATTTTTGCCATCAGTGATGTTGCCTAGCAACACAGCTGTCCTGCGGCTGGGGCCTGCAGCCAGGGGCACAGGCTAGAGGGACGACCACAGGCCAGGTCTACAGGGAGCCCAAGAGGGCTCTGGCCACCTTTGCCCTCACCCCTGCCCTGCTCCTGGCCACAGCACATTACAGGGCGGTAGGTGATAAAACCCTGGGGACAGTTTCTACATGTGAACCTGTTTTTATATTTTTAAAAATGCATAGAAGAAAAACGTTGTGTGTGTGTGTGTCTAGAAAATTGTCTGGTTAGATAAAACCCCGTATATTTACAAGGGTCTTTTTCTGCCCTCTGGCATTCCAAGTGATTTTACCTTTTTTCTCCTTGCTTATTATTTTTCGTTTTTGTGTATGAAGCTATATAATAAAAACAAAGTGGCTGGGCGTGGTAGCTCACACCTGTAATCCTAGTGCTTTGGAAGGCCGAGGCGGGTGGATTGCCTGAACTCAGGAGTTTGAGAGCAGCCTGGGCAACACAGTGAAACCTCGTCTCTACTAAAATATAAAAAAAATTAGCTGGGTGTGGCAGCGTGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCGCACCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCTCATCTCCAAAAAAAAAAAACAAAACTCAAAAACGAAAGGGTTTTTTTCCCTTTTGACTATCTTGCTGTGAACTTGTCACTGTCCAGGTCTCCTATCTTGGACTTCTGGGAGAAACACCCCGTCTTGCAGGAGAGCTGATTCAATAAGAAAGTTTTAGTCTTGCGGCTGTGAGGGAGCCACATCTCACAGCTCATCATGGCACCTGCAGGAGCCTCACCCCGGCTGACTTGTTGCTGGTGGCAGACTTCTCCCTGGCCAGGTGAACCAGCGACAGCAGGCACAGCTCCGGGGAGCCCTGCTTGTCAGGGGCGGGCTCCTCATCACTGTCGACGCTCCGGCTCAGCAGCTGCTCATTCTCGGATGAGGCATCGTTCTCGCTGCAAAAACAAGAGCGATGGTCATTAGCAGTGCCTGGGGGGGCTGCAGCCCTGACAAGTTCTCCTGTGGTGAACTTGTCCATTGCCCAGCTGTGGACAGTGGGGGGCAATGACTTGTTTTTCAGGTGTTTACTGGGCACCTTGTGGGCACGGGACCAGGGGACATGAGACGAGACATACACCGGTGGCTTCCTGCTTCTTTCCAAACAAACAAGTCCGTGGTGGGTGACCTGCAGGCGTCTAAGGGGCTGGGGCTGCCACTGCGTGTGGGAGGCATCCACGGGCCTCTCCTTCCCTGCTACCTGACACACAATGGATGCTCCGTGAAGGTTCATTGAATATGTCCTAGATCTCTGTATTTAATCCCAGTAAGCACCAAGTTCAACTGGTGTCTTCATGTTAAGCAAACAGATTGATGCAGCTGGCGCTGAATCCATGCTGGCTCTCTGGAGTCATTGAAAAGGGAGCTGAATGGAGCCTTGTGCCTGGAAAGCCCCCTCTTGACTAGGGGGGTGACCTGGCTGACCTGTGTGCATTGCAGGGGGTGGCACAGCAAGCCCCAGCGGGTGAGCTGGGTGGGCGGTCGGACCCACCAAGCCCAGGTTCATGCCGCCCTGTGGCTCACAGCCCACAAAGAACCCAGGGTCTGCCCTAGGCACATGTGGGTTGGAGCTTAAACTCTCTTAAAACCATTCCAAGTATATGAAAAACAATATTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAAAAGCTCAGTGCCTTGCTGTCTTTTAACGTACAAGTGTCAGGGTTCAATTTGTATTTAATATTCGTGTATGAAAGCAGTATATATTTTTTCCTAATAGGGCCTCCAAATTTTCCCTGTCTTCAACTGCAACTCAAGTCATGGGGCACGTCTCTGCCTTTTTGATTTCTGGGAATAAGAAAAGCCTGAATATCAGAAGGGAGAGGCTGAGACAGAATGAGATAAGGCTGGGCTGGAGGCTGAGGAGCAAATTCAGTCTCTAGGGAGGCCCTATTTAAGAGTTCCATGCAGGGTGACCAGGTCCTGCCCTTGGTCCTGGGAGCAGCAGCTTGGATCTGGCACACAGGATCTCCACACAGATGCTGGATCGATTGGAATGGCTTTGCAAGGTGAATCATAGGAAGATCATGGGGTGGGGGCAGGAGAGGAGGGCTTAACCTCTGCTCTTCCTGTAACCAGTTTGGTGACCTTCTGGTGGCCTCTGTGCCCCATCTGCCAAGGGAGGCACTGTTGCGGGGGTGTCCTTCCAGGCGCAGCCTGCAGTGGCTGTCGGGCAGAGGCCTGGCAGGGGGGTCCGAGCACATTGCCTGGCTGGGAGCTGATGCTGTGGGGTTGATTTTTGGAAGCTACGCAGGACCAAGTCCAAATGACCATCCCACTGGATGAATAAAATATTGACTTCCCTCTACCCTCGATTTTAGAGCAGGGGCTGGTTCCACACCTTCATGTGTGGTAAACGCGGGAAAGGCTTCACCTGCCAAATCTCCTCCTCCAGAGGCCTCTTTACACCATGTGGCTCCTTGGGAGCCTGGACTCGGACCCCAGCCCTGCTGTTCACTAGTGTGTGACCTTGGGCGAGTGACAACTTCCATACCTCAGTGTGGTATCCTATAAACAGGGATGATACAAGCACCTTGCTCCTGGGCTGTGGAGGGAGGATGTGTTCAC
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CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCCTCACAGGAGCCTCAGGGCTCCGGGCCCAGCCCTTCATGTCGGTGGGGTGGGCACCACCTCTCCCAGGCTTTTTTTTCAGCTTACCTTCCACGACTCCACACACGTTGGCATACACATCGAGGATCTTTTTCCTCCGGCTTTGAATCTGTGAAAAAGAGTCGAGAATTTTCATCTCCAGAAAGGGGCAACAGTAGAAAGGAGGCAAATCCTCCATGTCAGCAGGGGCAGGCAGCAGCTACGCCCAACACCAGAGACGCTGCACACAGCCCCCGTGTCAGCAGCCCAGCCCTGACACACAGGGAGGAGGGCCTTCTTCAGGTTTTCCTATTCAAACATTTTTGGGGTCTACCACGGGTGCGTCTTAGGCTCAGCTGGGTGGTCAGACTCGTAAGATACTTGGGGACACCCCTGGCATCAGTCTGTTTGAAAAGATGACCATGGGGACCCCCACTTGCCCTCAGGACATCTGTGCTGCAGCAGAGCCGTGCGGGGCTCCCATCCCGGATCACGTGGCTGGTGCCAGGAGACCAGGCCCACGGTGCACAGCTGCTCAGTGGCCCTGGCTGAAGAGTCCCGGGGCCATGGCCACCTATCTCCCTTGTAACAACCCCACAGGCTTCCAGGGTCTCTGCAAGTGGCAGCCCCATTACAGAGGTCACTGAACTCGGGGCAGGCAGAGCTTGGCATCCTATCAGGACCAGGCTGGAGCCAGGATCCCAACTGGGCATTTTTGCCATCAGTGATGTTGCCTAGCAACACAGCTGTCCTGCGGCTGGGGCCTGCAGCCAGGGGCACAGGCTAGAGGGACGACCACAGGCCAGGTCTACAGGGAGCCCAAGAGGGCTCTGGCCACCTTTGCCCTCACCCCTGCCCTGCTCCTGGCCACAGCACATTACAGGGCGGTAGGTGATAAAACCCTGGGGACAGTTTCTACATGTGAACCTGTTTTTATATTTTTAAAAATGCATAGAAGAAAAACGTTGTGTGTGTGTGTGTCTAGAAAATTGTCTGGTTAGATAAAACCCCGTATATTTACAAGGGTCTTTTTCTGCCCTCTGGCATTCCAAGTGATTTTACCTTTTTTCTCCTTGCTTATTATTTTTCGTTTTTGTGTATGAAGCTATATAATAAAAACAAAGTGGCTGGGCGTGGTAGCTCACACCTGTAATCCTAGTGCTTTGGAAGGCCGAGGCGGGTGGATTGCCTGAACTCAGGAGTTTGAGAGCAGCCTGGGCAACACAGTGAAACCTCGTCTCTACTAAAATATAAAAAAAATTAGCTGGGTGTGGCAGCGTGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTAGTGAGCCGAGATCGCACCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCTCATCTCCAAAAAAAAAAAACAAAACTCAAAAACGAAAGGGTTTTTTTCCCTTTTGACTATCTTGCTGTGAACTTGTCACTGTCCAGGTCTCCTATCTTGGACTTCTGGGAGAAACACCCCGTCTTGCAGGAGAGCTGATTCAATAAGAAAGTTTTAGTCTTGCGGCTGTGAGGGAGCCACATCTCACAGCTCATCATGGCACCTGCAGGAGCCTCACCCCGGCTGACTTGTTGCTGGTGGCAGACTTCTCCCTGGCCAGGTGAACCAGCGACAGCAGGCACAGCTCCGGGGAGCCCTGCTTGTCAGGGGTGGGCTCCTCATCACTGTCGACGCTCCGGCTCAGCAGCTGCTCATTCTCGGATGAGGCATCGTTCTCGCTGCAAAAACAAGAGCGATGGTCATTAGCAGTGCCTGGGGGGGCTGCAGCCCTGACAAGTTCTCCTGTGGTGAACTTGTCCATTGCCCAGCTGTGGACAGTGGGGGGCAATGACTTGTTTTTCAGGTGTTTACTGGGCACCTTGTGGGCACGGGACCAGGGGACATGAGACGAGACATACACCGGTGGCTTCCTGCTTCTTTCCAAACAAACAAGTCCGTGGTGGGTGACCTGCAGGCGTCTAAGGGGCTGGGGCTGCCACTGCGTGTGGGAGGCATCCACGGGCCTCTCCTTCCCTGCTACCTGACACACAATGGATGCTCCGTGAAGGTTCATTGAATATGTCCTAGATCTCTGTATTTAATCCCAGTAAGCACCAAGTTCAACTGGTGTCTTCATGTTAAGCAAACAGATTGATGCAGCTGGCGCTGAATCCATGCTGGCTCTCTGGAGTCATTGAAAAGGGAGCTGAATGGAGCCTTGTGCCTGGAAAGCCCCCTCTTGACTAGGGGGGTGACCTGGCTGACCTGTGTGCATTGCAGGGGGTGGCACAGCAAGCCCCAGCGGGTGAGCTGGGTGGGCGGTCGGACCCACCAAGCCCAGGTTCATGCCGCCCTGTGGCTCACAGCCCACAAAGAACCCAGGGTCTGCCCTAGGCACATGTGGGTTGGAGCTTAAACTCTCTTAAAACCATTCCAAGTATATGAAAAACAATATTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAAAAGCTCAGTGCCTTGCTGTCTTTTAACGTACAAGTGTCAGGGTTCAATTTGTATTTAATATTCGTGTATGAAAGCAGTATATATTTTTTCCTAATAGGGCCTCCAAATTTTCCCTGTCTTCAACTGCAACTCAAGTCATGGGGCACGTCTCTGCCTTTTTGATTTCTGGGAATAAGAAAAGCCTGAATATCAGAAGGGAGAGGCTGAGACAGAATGAGATAAGGCTGGGCTGGAGGCTGAGGAGCAAATTCAGTCTCTAGGGAGGCCCTATTTAAGAGTTCCATGCAGGGTGACCAGGTCCTGCCCTTGGTCCTGGGAGCAGCAGCTTGGATCTGGCACACAGGATCTCCACACAGATGCTGGATCGATTGGAATGGCTTTGCAAGGTGAATCATAGGAAGATCATGGGGTGGGGGCAGGAGAGGAGGGCTTAACCTCTGCTCTTCCTGTAACCAGTTTGGTGACCTTCTGGTGGCCTCTGTGCCCCATCTGCCAAGGGAGGCACTGTTGCGGGGGTGTCCTTCCAGGCGCAGCCTGCAGTGGCTGTCGGGCAGAGGCCTGGCAGGGGGGTCCGAGCACATTGCCTGGCTGGGAGCTGATGCTGTGGGGTTGATTTTTGGAAGCTACGCAGGACCAAGTCCAAATGACCATCCCACTGGATGAATAAAATATTGACTTCCCTCTACCCTCGATTTTAGAGCAGGGGCTGGTTCCACACCTTCATGTGTGGTAAACGCGGGAAAGGCTTCACCTGCCAAATCTCCTCCTCCAGAGGCCTCTTTACACCATGTGGCTCCTTGGGAGCCTGGACTCGGACCCCAGCCCTGCTGTTCACTAGTGTGTGACCTTGGGCGAGTGACAACTTCCATACCTCAGTGTGGTATCCTATAAACAGGGATGATACAAGCACCTTGCTCCTGGGCTGTGGAGGGAGGATGTGTTCAC
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Task1_train_3938
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A variant affecting Chromosome 2, within the gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Non-syndromic oligodontia
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GCAAGTCTGACGGTGGTTTGCGTAATCCACCATTTGTTGCTGCAGAGTACCAAGGATGTGCACTTTGTTTGGCGAGGGCCCAGGTAAATCAAGAAAACAGAGGGGAGGAAGAGGTGCTCTTGACCACAACTGTGGGTTTGACAAAGACAGGGCCTGCTGGACCTGGGCAGCCAGTTGGCAACTTCGGGCTCCTGATGAAATGTTTGCTGCCCAGAGTGGGGCTGCTGATGGCAGTCCTGTGTGTGTGGGTCTTAGTGACTCCATGGGGCTTTCTAGCTCCGACGTTTTTGCTGACTGCTGGGCAGGTGCTCTGAGTAAAGAGATCTCTGGATTGAGACCAGGGCAGGCCCAGGGGTGGAGGGCATCACTCTGTTTGGCATTCACACCGAGGCCCTAACCCAGAGGGCTCCATCCACCCCAAGGCCTATCTGGCCGCATCTCCCCATTTCCCAGATGGGCAAGCCGAGGTCTGGGGCCTTGCCCAAGGGGCCTCTAATGGGAACACAGCAGGACTGTCTATTTCTCTGCTGACCTCCTTCAGGGCCGGATTCTAAGGCCCTACCCCGAGGCTTTCCTCGGAGCCGGCTTTCAGTAAAGCAGGCAAGGGCTGGGGGTGGGAGTGGGGTGCGCTCATCTTTAAAATCTTGAGGACTCAGGGGACTTTGCTTGCTTTCCACATGTGATAGACCTCATTGCTGGACTTAGAGAGGCGCCCCTGCCGTGACTCAAGTCTGCTCTGGCTGCCAGACATTGAACATTGAAGGCTGTGCCATGTGAGAACTCTTGAACAGAAAAGCCCCTGAGGAGGACTGCTCCTCTCCCAGGTTCCACAGGCAAAGATGCTTTTGTGAATAGGTGGGGAGTGTCTGACATCTTTCCAGACTGGTTCTTCAACCCAGAATGATCTGGCCTTGAATCAGCCTAGATCCCCACAGAGGACATGCGGGCCATGGCAGCTGGCTTCACCATGAGTCAGGCTGGCAGCCGAGCTGCGGCCTCCTCTAATTTGTGAATTAATTAGCATATGGCTGGCCAGGAAAATGGCTTTGAAGACGAGCAAACACATTGGTGCAGGGCTCATGCATTGCTCCTCCTGCAGCACAGCCCACAGCACAGAACCCTCCTCCTGGCTTGACCAAAAGGAGAGAGGAGATGCTGCGCCCCATTCCTGCTCCTCCCCTTCTTTCCAGCGTGATAAGACGCAGGCTCTCCTTCTTCTCCTGGACAACATTATTATGAGACATGGGGGTAGTGGCGCCTTATGGAGAGCAAAGAGAGGCAGGGTCCCAGGGTCAGCTCCTCCTCCACCCTTGAAGGAGCCAGAGGGTGGCAAGTGCTCCTGCAGCCCGGCACCAGACACCCAGCTTCCTCCCAGCTGCTTGTCCTACCTGCCTCCGTCTCTCCCCAGACCACACATCTAAGAGTCTACACAGCACATTCCTCTGAGGCAGAGGTACCTGGCCCTTCGTCATAAACAGATGCCCATGAAAGCCAGAAAGGATAACAGGAAAGAAACACCCCAAGGCAGGATTATAAACTCCTGAGACTGTTTACATGTGCTTTGTGGAATCTGTTTCATTAATTGTGATCACATTTATATTTTCCTTGGCCTCACTGTCACCTAGCACTTTGTAGTACTTTGCAAAATAGTAGTACTTTGCCTCTGTGATCTCCTTTGTTTTCACAATGACCGTGAGAGATGGGAAGGTCAGATGTTAGTACCCCCATATTACCGATGAGAAAACCGAGGCTCATGGAGGTTAAGTGACTTGTCAGGTAGCTGGTGGCCAACCTGCACTAGAACCTCAGCCTCTGACTCAAGGCTCAGATGTGGCAAACATCCCTCCCTTCATAGACCTGCCTGGACAGGCCACAGGAGCACTTTCACTAGTGCTGTTACTGTGATTCACCTTGTCCAGGTGCCAGGACCGGCTCTTTCCTACACCCTCTGTAGTGAAAGGGATCCGTGCTGAACAAATACCGTGCTGGTGGAAGGACAAAGACACTCACATTCCTTGGTGTTGGGGGGTGCCAGGAGGCAGGAGTAGCAGACCATGCCATAGATGTTCCTCGGTCTGTTCTCCAGCATGTAGTAGCTACGGGGGAGAGACAAGACAAAACAGAGACAGGTGAGCTGGACAGCACACAGGCAGGGACTGGTGCAGAGAGCACGGTGGCCAGTCTGCAGGCCCACAATCAAGTCGGGCATGAGGCCACGCCCACTCAGTCACCTGCTCTGTCCACTCAGTTTCCTTGGGGTTTCAGCCTGTCTTGAAATGGAGCATTCTTTTAACAATATTGAGCTGCCAACGTGGGCCTTTCTTTTGATCTCAGCCCCTTTCTGGTTCCTCTCTCTGGTGGCTGTGTTTAGTGTGTGTGCCATCACATCATCCACCAGAAATATCCCTGTGCCCCCACATGTAGGGCCTGCTTAGCCCCCCAGGGGTCACACCAACCAAGGCCAGACCTTCCTGGAGGAGGAACATGCCCTCTGTGAGCACCCTCCCCAGAGCCTGCAGCCTAGTGGGATTATAGGCATCAGTGTGCCTCTGGGACCCTTGGAACTCCCAAGCCATCTTTACTGCTGCTGAATGCCACCAGAGTGCAGCTGCAGGAGACAGACGGTTGTGCTGTCCAGAGAGGTCAATGCAGGTGGCCCTCATGATAGCTGGCAACACAACCAGGTTGTAAGTGCCTCCTTCTCAGAAAGCACTTGACAGAAGACACCCTTGGAAGTGCAAGCCTTTACGCTGGGGCTGCACACACAGTGCAAGGGACAAATCATTCACAGTAGCTCTGTTTGAAGTCCTTCAGCTCCCAGTGATGTTCCATTATGTCTTTCAGCTCCCCGATGTCACAGTGCCAGCCCCGTGGCTATATGACTGCTCAGGTCCTGCTCTCAGGGGTCTGCCCTGTGGCTGTGCTCCCTGCAGCCGTCCCGCTCCCAGGCACAGCCCCTGCTGGCACCACCCTCTCCTTGGGGCTCCCAGCTCGGGCGCCTTCCCTCTGCAGGCTCTAGCTCCTATCCTAGCCTGGGCCCATTTTCCATAAACAAATGCTCAGCGGAGAGCATGGAGCCATTTGTCACACTGTGAGTAGTCGATTAAATAACGTGAGCGGTGCCAACACTTTCCCTATTGCGATTCAAGAACTGGGATGAGAAGGAATATTTCCATGGCTGCTTTCTAATCTCTTTTTTATTAGCCAGGCCCCATGGAGGCCCCTGCTGACGGTAGTGCTAAGCAGCAGCCTGGCACGGGGGTCTGTGGGCTCCTGCCTTCCTGAGCCTGGACTGTTACCAGTAATGTTAGGACCATAATTGCCTGCCCTCCCTCAAAGCCCTTTATCCTCAGATCCCTGTGTATCTTGTAAACATTAATTAACCAATCTCAAAACACCTCCCAGAGAAGCCACGACAGCCAGTTTTACAGCTAAGCCTCTCGCAAATCTACCTTCTGCCCTCCAGAAGCCACTTCTTTCTATGAGGCAGGCCAAGGCAGGTGTCTGCCACGTGGCCTTGTGAGTTCACGGGCATGTGGGCCAGACCAGGTCAACCTGCAGCTTTCTAACGTCCCTGGCCCACGCTGACACTTCTGAGAAACATCTCAGGCTCCTAGGTGGCCACCTGCTCCCCATCTCACCTCCTCTGTGCCTCACTTCCTCGCCCTTGCCTCCTCCACCTTTTCTCACTCTACCTCCACGCATTCTCTCTCCCACCTAGGGGGATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCACGTCTATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCACGTCTCTATTCCTTGGACCTTGTGCTAGGTACTAAGGAAGGATGATTGTCTGTAAACATTGGCTGAATGAATGAATGACACCAAGTTCTTCTCCGTGGAACTTTGATGCTGAGGTGGACAGAGGCCCCAAAAGGCCTCTCTGCCCATCCTAGTTCACACCCCAGGTGCCGGGCTTGGTCTCTGTCATGGGTAAAGCTCCAAGGCTACACGGCGGATGCACAACACCCGGCTTTATGATGGGTGCCCAATGGGGCCACTACATTTTGAG
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GCAAGTCTGACGGTGGTTTGCGTAATCCACCATTTGTTGCTGCAGAGTACCAAGGATGTGCACTTTGTTTGGCGAGGGCCCAGGTAAATCAAGAAAACAGAGGGGAGGAAGAGGTGCTCTTGACCACAACTGTGGGTTTGACAAAGACAGGGCCTGCTGGACCTGGGCAGCCAGTTGGCAACTTCGGGCTCCTGATGAAATGTTTGCTGCCCAGAGTGGGGCTGCTGATGGCAGTCCTGTGTGTGTGGGTCTTAGTGACTCCATGGGGCTTTCTAGCTCCGACGTTTTTGCTGACTGCTGGGCAGGTGCTCTGAGTAAAGAGATCTCTGGATTGAGACCAGGGCAGGCCCAGGGGTGGAGGGCATCACTCTGTTTGGCATTCACACCGAGGCCCTAACCCAGAGGGCTCCATCCACCCCAAGGCCTATCTGGCCGCATCTCCCCATTTCCCAGATGGGCAAGCCGAGGTCTGGGGCCTTGCCCAAGGGGCCTCTAATGGGAACACAGCAGGACTGTCTATTTCTCTGCTGACCTCCTTCAGGGCCGGATTCTAAGGCCCTACCCCGAGGCTTTCCTCGGAGCCGGCTTTCAGTAAAGCAGGCAAGGGCTGGGGGTGGGAGTGGGGTGCGCTCATCTTTAAAATCTTGAGGACTCAGGGGACTTTGCTTGCTTTCCACATGTGATAGACCTCATTGCTGGACTTAGAGAGGCGCCCCTGCCGTGACTCAAGTCTGCTCTGGCTGCCAGACATTGAACATTGAAGGCTGTGCCATGTGAGAACTCTTGAACAGAAAAGCCCCTGAGGAGGACTGCTCCTCTCCCAGGTTCCACAGGCAAAGATGCTTTTGTGAATAGGTGGGGAGTGTCTGACATCTTTCCAGACTGGTTCTTCAACCCAGAATGATCTGGCCTTGAATCAGCCTAGATCCCCACAGAGGACATGCGGGCCATGGCAGCTGGCTTCACCATGAGTCAGGCTGGCAGCCGAGCTGCGGCCTCCTCTAATTTGTGAATTAATTAGCATATGGCTGGCCAGGAAAATGGCTTTGAAGACGAGCAAACACATTGGTGCAGGGCTCATGCATTGCTCCTCCTGCAGCACAGCCCACAGCACAGAACCCTCCTCCTGGCTTGACCAAAAGGAGAGAGGAGATGCTGCGCCCCATTCCTGCTCCTCCCCTTCTTTCCAGCGTGATAAGACGCAGGCTCTCCTTCTTCTCCTGGACAACATTATTATGAGACATGGGGGTAGTGGCGCCTTATGGAGAGCAAAGAGAGGCAGGGTCCCAGGGTCAGCTCCTCCTCCACCCTTGAAGGAGCCAGAGGGTGGCAAGTGCTCCTGCAGCCCGGCACCAGACACCCAGCTTCCTCCCAGCTGCTTGTCCTACCTGCCTCCGTCTCTCCCCAGACCACACATCTAAGAGTCTACACAGCACATTCCTCTGAGGCAGAGGTACCTGGCCCTTCGTCATAAACAGATGCCCATGAAAGCCAGAAAGGATAACAGGAAAGAAACACCCCAAGGCAGGATTATAAACTCCTGAGACTGTTTACATGTGCTTTGTGGAATCTGTTTCATTAATTGTGATCACATTTATATTTTCCTTGGCCTCACTGTCACCTAGCACTTTGTAGTACTTTGCAAAATAGTAGTACTTTGCCTCTGTGATCTCCTTTGTTTTCACAATGACCGTGAGAGATGGGAAGGTCAGATGTTAGTACCCCCATATTACCGATGAGAAAACCGAGGCTCATGGAGGTTAAGTGACTTGTCAGGTAGCTGGTGGCCAACCTGCACTAGAACCTCAGCCTCTGACTCAAGGCTCAGATGTGGCAAACATCCCTCCCTTCATAGACCTGCCTGGACAGGCCACAGGAGCACTTTCACTAGTGCTGTTACTGTGATTCACCTTGTCCAGGTGCCAGGACCGGCTCTTTCCTACACCCTCTGTAGTGAAAGGGATCCGTGCTGAACAAATACCGTGCTGGTGGAAGGACAAAGACACTCACATTCCTTGGTGTTGGGGGGTGCCAGGAGGCAGGAGTAGTAGACCATGCCATAGATGTTCCTCGGTCTGTTCTCCAGCATGTAGTAGCTACGGGGGAGAGACAAGACAAAACAGAGACAGGTGAGCTGGACAGCACACAGGCAGGGACTGGTGCAGAGAGCACGGTGGCCAGTCTGCAGGCCCACAATCAAGTCGGGCATGAGGCCACGCCCACTCAGTCACCTGCTCTGTCCACTCAGTTTCCTTGGGGTTTCAGCCTGTCTTGAAATGGAGCATTCTTTTAACAATATTGAGCTGCCAACGTGGGCCTTTCTTTTGATCTCAGCCCCTTTCTGGTTCCTCTCTCTGGTGGCTGTGTTTAGTGTGTGTGCCATCACATCATCCACCAGAAATATCCCTGTGCCCCCACATGTAGGGCCTGCTTAGCCCCCCAGGGGTCACACCAACCAAGGCCAGACCTTCCTGGAGGAGGAACATGCCCTCTGTGAGCACCCTCCCCAGAGCCTGCAGCCTAGTGGGATTATAGGCATCAGTGTGCCTCTGGGACCCTTGGAACTCCCAAGCCATCTTTACTGCTGCTGAATGCCACCAGAGTGCAGCTGCAGGAGACAGACGGTTGTGCTGTCCAGAGAGGTCAATGCAGGTGGCCCTCATGATAGCTGGCAACACAACCAGGTTGTAAGTGCCTCCTTCTCAGAAAGCACTTGACAGAAGACACCCTTGGAAGTGCAAGCCTTTACGCTGGGGCTGCACACACAGTGCAAGGGACAAATCATTCACAGTAGCTCTGTTTGAAGTCCTTCAGCTCCCAGTGATGTTCCATTATGTCTTTCAGCTCCCCGATGTCACAGTGCCAGCCCCGTGGCTATATGACTGCTCAGGTCCTGCTCTCAGGGGTCTGCCCTGTGGCTGTGCTCCCTGCAGCCGTCCCGCTCCCAGGCACAGCCCCTGCTGGCACCACCCTCTCCTTGGGGCTCCCAGCTCGGGCGCCTTCCCTCTGCAGGCTCTAGCTCCTATCCTAGCCTGGGCCCATTTTCCATAAACAAATGCTCAGCGGAGAGCATGGAGCCATTTGTCACACTGTGAGTAGTCGATTAAATAACGTGAGCGGTGCCAACACTTTCCCTATTGCGATTCAAGAACTGGGATGAGAAGGAATATTTCCATGGCTGCTTTCTAATCTCTTTTTTATTAGCCAGGCCCCATGGAGGCCCCTGCTGACGGTAGTGCTAAGCAGCAGCCTGGCACGGGGGTCTGTGGGCTCCTGCCTTCCTGAGCCTGGACTGTTACCAGTAATGTTAGGACCATAATTGCCTGCCCTCCCTCAAAGCCCTTTATCCTCAGATCCCTGTGTATCTTGTAAACATTAATTAACCAATCTCAAAACACCTCCCAGAGAAGCCACGACAGCCAGTTTTACAGCTAAGCCTCTCGCAAATCTACCTTCTGCCCTCCAGAAGCCACTTCTTTCTATGAGGCAGGCCAAGGCAGGTGTCTGCCACGTGGCCTTGTGAGTTCACGGGCATGTGGGCCAGACCAGGTCAACCTGCAGCTTTCTAACGTCCCTGGCCCACGCTGACACTTCTGAGAAACATCTCAGGCTCCTAGGTGGCCACCTGCTCCCCATCTCACCTCCTCTGTGCCTCACTTCCTCGCCCTTGCCTCCTCCACCTTTTCTCACTCTACCTCCACGCATTCTCTCTCCCACCTAGGGGGATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCACGTCTATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCACGTCTCTATTCCTTGGACCTTGTGCTAGGTACTAAGGAAGGATGATTGTCTGTAAACATTGGCTGAATGAATGAATGACACCAAGTTCTTCTCCGTGGAACTTTGATGCTGAGGTGGACAGAGGCCCCAAAAGGCCTCTCTGCCCATCCTAGTTCACACCCCAGGTGCCGGGCTTGGTCTCTGTCATGGGTAAAGCTCCAAGGCTACACGGCGGATGCACAACACCCGGCTTTATGATGGGTGCCCAATGGGGCCACTACATTTTGAG
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Task1_train_3939
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Here is a variant affecting EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Oligodontia
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CTCTGAGGCACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGC
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CTCTGAGGCACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCATACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGC
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Task1_train_3940
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Consider this mutation in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
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ACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCAC
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ACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGGCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCAC
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Task1_train_3941
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The gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATT
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TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCTGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATT
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Task1_train_3942
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This mutation is located in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATT
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TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCTGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATT
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Task1_train_3943
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Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
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CTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTC
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CTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCAGAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTC
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Task1_train_3944
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Assess the clinical impact of this variant on gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
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ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGATGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
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Task1_train_3945
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Given this variant in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
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ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGATGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
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Task1_train_3946
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A change on Chromosome 2 affects gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
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ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGATGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGA
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Task1_train_3947
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This genomic variant is located on Chromosome 2, within the EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAG
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TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACACCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAG
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Task1_train_3948
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A mutation found in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
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TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAG
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TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACACCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAG
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Task1_train_3949
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With a mutation on Chromosome 2 in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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AGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGC
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AGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCTCCCTGCAGTAGGAATTTGCCCCATGGGGAACCCTTCTACTACAGCGGCCCCCAGCACCCTGAGTGCATAGTGACTTCCCAGCTCTGGATCTCTGCCTGGAGGTTCAGGCCATCTCTGGGTTAGCTATCTAGGTCTGGATGTCCCATAGTCCCCTCAAATTCCACACACACAACCTCTATCCTCCCTCCACCTCCCCACCAAGCACCCTCTTGCTCCTGTCTTCTGCAGCTGACAAATGGCACTATTTCCACATGGCCAGTCATGGAGACACCTGAGTATCCTCTTCTGAATCTCTTTCCCCTTCTGAGTGCCATCTGCACCCCTGGTCAGTGCTGTCTTTCAGGGGGCTCTCAGATTCTTCCTCTCCTCCACCCCCGGTGCCTCTGCTCCAGCCCTCTCCCTGCCCACAGCATCCCTGGCTCAGCAGTCTGCGTGTTGACCTGCATCAGCTTCGAGCGGAAGGCTCAAGTCTTCAGCGGTGGTTTCCAGAGCCTGGTTCCATCTGCTCCCTGCCCTCCTGCCCAGCTTGTCCACACCCCCAGGTGTACAACTCTTGCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGTAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGC
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Task1_train_3950
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This genomic variant is located on Chromosome 2, within the EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Inborn genetic diseases
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GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
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GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCACTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
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Task1_train_3951
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A genetic alteration is present in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
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GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
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GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCACTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
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Task1_train_3952
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Here’s a variant in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
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GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCGCTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
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GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATCACCTCTCCCACCTGTACCAGCTGTACCAGGGACACCACCACTGCTTTTATCTTTAGTCTCTATTTGTAGCCCTTGCAAAGCATGATGTGTTGTGGCCACTAGGGGGAGGAAGCAGCAATGATCATGGCTCAGGATTTTCTGGGGATTGAGAGTCTGTATTTTCCTGGTCCCTGGCAGAATTTGCTGAGGTGTCATGCCTGGAAAAAGGAAGATTTTATCTTTCTCTCTTTCAGGCTAATTGCATTTTCAGCTTTTTGAAGACTTCTGATGCATAATCATTTTGGAGGGATTATAGGTATCATATGACTCAAATATTTTTATTAGTAGCTTCCCCAGAGTGTTCCCAGGATACTAAAAATGCTGCTTTTGCATGAAATTTTAGTTTTCTTTTTCCCAAAGTGTTTCACATGCGCTACTGCACTGTAAGTATTCAAGCAATTTGTTTCCTTTTGGTGGTCAGAAGATATTATGATGGTTAATGGCCACTTAGGAGACACAGAGGCAGAGCCTGATGGGCTGCCTGTCCACCGGAGGGGCCAGGACTCTCCGTCCTGGATGCTGCTCCTTGTGGGATGGGACCAAGGCCAGGTGTGCGGCTGCACCGAGGCCTGCAGTATCCATGACCCCTGTTCCCAAGGTCCTTGCCCGTAGCCCCTCGGGGTTTTCTGCAGAAAGCATGCCAGGGTTTGCCAGGAGGGCCTGTGCTTACCCAGGGAGGCAAGGGCCACACTCAGCGTCATTCTCCATGTCCCCTGGTGTCAGCACGGTGGCCCGGAAGAAGCCCTCACAGTCTTTGTGACGCCTGCATATCTGGTAGCCTCCTTTGGAAAACTTCTCCGCCGGGCAGGGGACGCAGCCGTAGTCCTCGTCTTTGGTGCCGTAGCCACAGGACTGTCCAGGGAAAGAGGACAGGGGACACAGGTGAGTGCAGCAGCCAAACCATACGGACTCGGCCCACAGTCCTTGGGCAGTGACGTGCCAGCTGTCTCCAGAAGCTACTCTTGCCGGGCCTTGGTTTCCTGAGTTGTCCTAACTGCAAAACCCCCCAGGAACCAGCTCATGCTCTGGGCTTGCCCCTCTCCTCGCCACTCTCAGGCTCCAGATGCTGCCCCTTTTCTGAGCCTCCCCGAGATGAATTCAGCGAGCTGCTGGAATGCCCAGGCAGTGCAGGTAGCACTTGGCATCTGACTTTCCTCAGCTTGCTACAAGAACCGGACACTGAAACCCCGGAGGTTTCCCTTAGTGCTGAACAGAACACTCAGGCTTAGCTTGCCCAGAGGCGGAGGGAGATGCAGCACTCAGGAAAAAATGTACTAGTACTGGAGAATATTTCAATCCTGCTTCCAATCAGATGATCTGACGCTCATTTAATCAGGGTAGAGTGGGAAAGTGATCCTTTAAAAACATTTCAGAACTCCTGAAAAATCTGTTTATGAATGCTTAGCTGGTGAGTGCCATTCCTGGGCTCACGGCAGCTCTTGCCATCAATCTCAACGTCCAGGGAGCGTGACCGGCTGGTTTGATATACCCTGGCATCCCCTCACACAGCAAGGCAGGCTCAGGGCAACAATGCCACAAGCAGGAGGCCTCCCCTGAGAGCGCACCAGGCTCCAGGAGGGCTGGGTCCTTACCAGGTAGGGCTCCTCTCCCGGCCCACACGGGGGGCACTCCTGGCACAGCCCCGTAGTCTGGTTGTAGTACTCGTTCTCACCGCAGTTTGAGTATTCCACTCGGGCTGAGCACATCAGAGACACCTGCCAACAAAGGGGGGTGTTGTGGCCTCCGTACCTCCTTAGAAACACATGTGACTCCTGCAAGACCCCAAGGTTGACATAGGAAGGGGGTGCCCTGCGGTGGGGGCTCTGCTGGGGGCTCGGTCTGGGAAGGTGCCCGCTTGTGAGTGCTCACTGCTGCTAAGTCTCCAGTGGCTCCTGGTTGATCACCTGGGCACGGCCAGCCCCCACTAGAACCACCCTGCCTCACCCCTGCTGGCCAAGCCCCATCCCACCATCAAGGCCTGCTCTGAGTTCTCCTCATCAACGCACTTGCCAAGGTCATGGAGGAGGCGCCCCTGTCCCCCACTGAGCCTCTAATACAGTGGCTTCTCAGAACACCGGCGTGTCCAGGAGGATGGGGGTAGGGGTCTGAGTCTTCCAAGTCTTTCTTAGCTGCGCGGCCCCCAAGCATGAGCTCATCACATAGACACAGGGCTGTGTGTATCACACCACAAACAAGCAATCAAGAACGTTTATATCCATGAGACCCTATGAAGGGAGCTACCAACGAAATCAATGTAACTTCAGCCTGGGGCAGAGTTCTGTGCTTTGCAGGCCTGGTTTCATTTCACCCTCAGAAGAACCCTGTGGAGGAGGGACTATGATCAGCATTCCCATTTTACAGCTGAAGAGGCCAAGAAACAGTCCAACCATCATGAGGATGAGGGTGCTGTGGGGGTAAGGGGCTCAGACCACTTACCACCAGGACGGGGAGCCAGGGCGTCTGCGTGCAGTCCCCCACATGGGCCATCCTCTCCCAAGGGCTCACCTGAAAGACATGCGTCATTAGCTGGGCACTGGCGGTAGCACCCCAGCCGGGGGTCTGGCTACCTTTATTTAACCCCACTGGATATAAGGTGCCTTCCAGCAAACAGAGGGGAAACTATACATCCTAAAAGAAAAGCAGACATGAAGCTGAAGCTGTACCCATGCCACTTGGGCTGACTCTGGGGCCTTCCCAGCCTCGCAGCCATGCCTGGGAGGGAGCCTGAGAGGAGGCTAGGAGCACACGGAGGGCCCAAGGTTAAACCCGAGGTTAGTGATTGTGTTTCTCGTGCTCAGAGGGTTTGGAGAAACCTAGCCTTACATGAGCTTTAAGTCTGGAGTCCTCCAGGCCAGTCCTGGCCTCTGGGCTCCAGGACTTAGGAGGACCCCTGGAGAGACTGCCAGGAATTAGATTCTGGTCTTTGCCCCTCTGGATGCTCTCCCAGCCCCAGCTTAGTGTTCTTCCCTCTCTCTGTTAAGAACAGGTTGTCCATCAAAGTGGACAAGTCCAATAACCTAACTTTACAGTTGAGATAGTGGGAGCCCAGAGAGGTTAAGTGATTTGCCCCAGGTCACACAGCTACTTAAGGGATTGAAGGGATTGAGCATGGCTGCAGCTGTTCAGGTGTTCAGATACTTTTCACCAACTATTAATATTACACGAATGCATTCCCTTGAAGGAGGAGGTGGGTTTTTTTTTCTTTTTTTTTGCTTGTTTTTTCACTTTCTGAATGGAGACCTGTGTTTCTGACTCAAAGCAATTTTACTTGGTAGTCTGGGTATTAATTAGCCTGGCTCTACAAAGAGAGATAATGTGCTCTAGTGATCGCCTAAATTCCCCAGTGGCTGCACTCTGGTTCACTGTCCTCTTGCCACAACAAAACAGCAAGTACTCTTCTAGATGCTGGGTTGTGTGAGGAACCTTCCAGAATCAACCACTGACACAGCCCAGAAGACCAGCTGGGCCATGGAACCCAAACTCCCTAAGACCTTTCACCCTCAGAATTCTCTCGTCCTTAGCAAGCTACCATTGGTCATGAAAACCAACTAATTCCCAATACCACACACAAAAACACCGTGACGAACATATGCCATGATGCACAGGAACCTTCCCTCCCTTCCTCCTTTTCTTTCTTTCTTTTGGAAAAGTCCTGCAACAGCCTAAAGGCATTAGGTAGAAATTAGCGAAAGATTATTGGAAATAAATTAAGTTGGAGAGGCTGAGCGCGGTGGCTC
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Task1_train_3953
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Here is a mutation in NPHP1 (nephrocystin 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Joubert syndrome with renal defect
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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Task1_train_3954
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A variant was discovered in gene NPHP1 (nephrocystin 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Nephronophthisis 1
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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Task1_train_3955
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Gene NPHP1 (nephrocystin 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Joubert syndrome with renal defect
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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Task1_train_3956
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Given a variant located on Chromosome 2 and affecting NPHP1 (nephrocystin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Senior-Loken syndrome 1
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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Task1_train_3957
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A variant found in Chromosome 2 affects NPHP1 (nephrocystin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; NPHP1-related disorder
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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Task1_train_3958
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This variant lies on Chromosome 2 and affects the gene NPHP1 (nephrocystin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Retinal dystrophy
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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Task1_train_3959
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Here’s a variant in NPHP1 (nephrocystin 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Inborn genetic diseases
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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Task1_train_3960
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Mutation context: Chromosome 2, Gene NPHP1 (nephrocystin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Nephronophthisis
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACCTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTTTACAGATGAAGAAATTGAGGCAAAGAATGATTAAGATAGAAACCTAGTATTATTTCCTTTCTAACAATGAGAGAAGAGTGCAATGGAGAAGAGAAACAAGATAAAGTCAAGGTAGCAAGTCCAAATTCTGCCTTAGTTATAAAAATATCGCTATTTTCAAAATTATCATAAACAATTTTTTTGTTTTTTATAATTCATTAGTCAATTAACATGTTGTTTGTCTAATTGCAACTATGACAAAATCTGGAAGAGTTACACTTTTACTGATAGTAACTATACTTACAGTGCCTTCTGTAGCATCCCACATCAGATCTCTGAAGGCCAGTTGTGAAGGCATGAGCTCTGGTTGTAAGAAGTAATTTGCTCGAAATTGATTCCCTGAAAAAATCATTTTTTCTTCATTTTCTTACAAAGAAAGAAACTCCAAATCAAAAATCCATAATGTTATGCTATGAACTAGAGTACAGGCACTTCCAAAATGCCACGCTGCTTACTAAGAACTTGCTTTCCAAAATAGAAGCGCCAATATAGATTTATGGATAAAAACAGCAGTACAAAACTTACAGATACAAACACATAAAAGATCATCTTAAAGCACCTTTAAGAAAGACTTTTAGGCCAATAATATGCCCCATGATGACAAGGATTCATTCAAATATTTTTGTAAAATGCAGAAATCTATGAGCACTTTTTGGAGACTTCAGAAAAAACAAAGTCGTTAGTTTTACTTCTTAACACAAAAGCATTTTATGCTCTTCCTCCATGCTTTAGTCATGAATAATACTTTTAATAACATCATTTATCCATTCGAGAAATAATTTTTGAGCTTCTACTCTTGCCAGATGCTACACCAGGTTCTAGAAATACAAAGATAAATCAGAGATATGTCCCCTGCCCTCCATAGTTTACAGTTGAATGGGAGGAAAATTTTCTTAGAAAATAAGTAGACAAGCAAATAAATAAAATAATTATTAGGGGACATAGAGCTATAAAGGGTGTTCACATGAATGGGAGTAAGGGAAACCCACATTACTCAAGGAAGGCATCTCTGGGAAGGCAGAATTTACCGCGAGACCTGAAGGATGAAAAGATGGGAATTTAGGGAGTACTGGGAAGAACCTTCCCAGCAAAGGCATCCTCAAAGCAGCCCTTCCATGACAACTCAACAACTCAGGGTATACAGGACACCCCTTGTCCCCCAGCATGAATCCTCTTTAAAATGAGCTTATAGACAAAAGTTGCCAAATACAGGGAAAGCCAAGAATGAGTAAGGAAAATGAAAATTCCAAATGGAGATAATTCTTTGGAAAAGTCTTGCTTGGAAGAAGATCAGAGAAAAGGAGGTTTTGGCTAGAATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACGTGGATCTTGACTGCTTTGCTGAAAGAGTGCAGTGGCTGATAGGCACGCATTACTTTCCTCCAGAAGCTGTGAGAGCGTGGAAGGCCTGAACCCTGCAGGAATAGCTCCCATCGTAGTTAACACATCAACAGTGTTTATCTGCTGAAGACAGTAACATCAAAATGGATTTGTTTTCAGTCATGTTTCTGCATCTCTATAATACTTTATCACTAGAGTAACTATAACCCAAAAAAGAAAAATATAAACATACAGACTTTAGTGGAAGAATAATACGATTTGGCCCCAAATTCCTGAGAGGATGCCATCACAGCACCCTGGCCTCTCCTAAGGACCTAAGCCCCATACAGTGCCCAGCGTGCAGAGCTGTGTGTTCCGGAGCAGCTGCTTCAAGTATACCCTTATCAAAATGTCCCTGCTCCTGTCCTGCTCCACCCTGCGCTTCCATTTCACAGGTAAGTTAATGTCTATTGGCAAATCACATGCACTGAAGAATTAATGGATTTTTTTTGTATACACATACACACTACTCATAGACACACACCCTCACACATACAAGGATGTACTTATAAGTAATAAATAACGAAAAAGGTCAGGAAGGACACGTACTAAATTGTTAATGGTGATTACTTATGAGTTTGAGGAAGAGAATTTTCATTTGGCTATGTAATTATTTTTTTGTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGAGTATTCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTACAGACATGCGCTACCACGCCCAGCTAATTTTTCTATTTTTAGTCGAGGTGAGGTTTCGCTGTGTTGACTAGGCTGGTCTTGAACTCTTGACCCCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCATGAGCCACTGTGCCCGGCCTGTAATTTTTTTTTAATGACAGAATTATGGATCATTTCTCCTTTAAAAAAATGTAATTAATTACTTTTTTTTTTTTAAGACAGGGTCTTGCCCTGTCACTCATGCTCTGGAGTGCAGTGGCACAATCACAGCTCACTACAGCCTTGACTTCCCAAACTCATGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGAGCCACCACACCTGGCTAATTTTTCTTATTTTTTGTAGGATAGGGTCTCACTATGTTGCTCAAGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCTTCCCAAAATGTTGGGATTACCAGTGTGAATCACCATGCCTGGCCAATTTCTTACTTTTTATTAAAGGCTTTCAGGATTTTTCGAATAGTAAATAAAATTTAACATCTGTTTCCACTCAAATGATAGGAAAGCAGGATCAATGAGAATGTTTCCAAGTCCTCAAGTGACACCATGAATTATCTATTCTTTTTGTACAAAAAAAAAAAAAAACTAATGAGAAATGTTACTTGGAGCACAGGCTTAGAAACCAGAAATATACGTCCTCTGCTCTGTACATTCCATGCCCTGAACCCTGTTTCAGATCCATTGGTGTCTTCCACAGTCTCCATCCTATTTCGCATCAGAACTATTAGGTAGCAAAACGAGACATGATTAACAAGACAGAAGATGCCCGCCTCTGAAATCGCTTTCTGAACAGCACTCCAGTGGGGATCAGTTCTGGGGAGACAAAATAGCAAAGTGAGTCAGGTCAGGTTATGCCTATTCACTCAATTAGGGAACTTCTTTAATCACAGTTGATAATCATCAGTAAGTTTTGAAAATCTAACAGTTTCCAGATGAAAACGAGGTAGAGCTAAATGTATTAAAAATAATTACAAAACTAAAACAGTAATGATCTTTAAGCAGACAATAGTATGAAAAGCTCTCCAGGTACAAGTTGTCTCCATTTCAAGAAAGTATTGAATTAGTTATAATAATAAAAATAAACAAATAAAATGTTTCCTAAACCTACTTTGATATCCTTTCCCACTTTTGTACCTTTGCTTAACTTCTGCTCCATCTGCTGTTTCATCCACCGCCTC
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Task1_train_3961
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Here’s a variant in BUB1 (BUB1 mitotic checkpoint serine/threonine kinase) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Colorectal cancer with chromosomal instability, somatic
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GAGTCTGTCATTGTCTATTGGCCTTTCCGAGTCTTTTTTGTACTGACACTTTTGAACACTAGTCAGAAACTCCGTAGAATGTCCCTACACAGTTTGGGCTTATTTGATGTTTTCTCATGATTAGACTGGGGTTACAGATTTTTGGGAAGGATATCAGAGGTGAAATGTTCTTCTCATTACATCATATTAGGGGATATCTGCTGTCAACATGACTTATTCCTGGTTAACCCAATCACTTGATTAGGCAGAATCTCCCATGTTTCCCTACTGTAATCTAATTTTCCCTTTCCCTTTGCTTTTTGTCTGAAGCAAGTCACCAAATCTAGCCACACTCAAAAGGAGATGAATTAAACTGGAGGAAAAAAATTCAAAGAATTTGTGGATAAATGTGAAACCACCACAGTAATGAATATTAATAAATAATTTTGGTAGGACACTTGGAAAATATGCACATACCCTGTTTCTTCTTGAATAATTATTAAATAATGTCCTAAAAGAAACATATTCTTCCTATGTTTCATAGTTTTTAGCATAGTTTCACATACACAATATCCTCTGACTGGCATAATCATTTGGTAGAATAAAGCGGATGGGTTGTAGGACCCATTTCATAGATAAAACAGGTTTGTTTACCTTTGGTTTTGAAGGAAGTCTGCTGACAGAGCGTTCTCCAAAGGTCCTGGCTCCTGTGGGTTTATTTTTAGGCTGTGGTAATCTAAGGAAAGATTTGCTAAATTATAAATAGTAAAATATGCTAAGGAAATAAATGCTATCACTTGACCATTAGAAAAGTTCTCTACTTATCCTATTTAATGAGTTAATCTTTATATAGATATTCCTTGCTTTTATAGCAGTTCTAGCAAAACTGAGTGTAATCAAATTAACATGACTTATAAAAGTAGACCTATCATTACTTGAGGGTGGGAAGTACAGAAATTTCTGTCACATAACTTTTAGAAGCCAAAAATGAATTCCTGCAGTACTGTAAATCTGGAGAACTTTGGCAACACCCCCCTGGTTGTGTGGTCAAAAGGCTCATTTGACCATGTGATTGGCAGTTCACATTCTCTCCTCACCACCCCACCACCTCTGGTCCCAGAGAAAACTCGGCAGCATCCCATTAACTAGATGGTATTTTTTTACCCATAATTTTCTTTGTTTCCATCTTCAAACACATGAAAAGCAGATGACAAAGAAGAGATGATCTTATTGACTCCCCAAGCCCCAGATGACCTTACATTTTCTGCAACAGAATAAAAAATAGCATCTAATTATTGTACTAGGAAAAAACATCCTTTATATTAAACTTCAACTACAAATAAGAAAAAGGACTAACAGCTGACAGAAAAGAACTAATATCAGCTTTTCAAATACTAGGCAGTAAGTCACTATAGTGAGATGAAGTGACTTAACTATGGTAACAGGGTTTTGTACTCAAGTCCCAGGTCACGAGTCCCTGCCACATATCAGCAAGGTGTTAATCATTCTCCTAAATCAGTACTATTGTCACCTGACTCACTCAATAAACGCTCTCAGGGTTTCGTTTTCCATTTCCTTCAAGAAAGAATTAAGCTCTTAGCTTTACATTTCAAGTCCTCCTGAGTCTAATTGGCTTCTACTTATCTTTATCATGATCTCTGGCTTCTAGCATGAATCCCCTGACTCTAGACAAATGTGGGCTAGCTGCCAGCCTCCTCTAATACTCTGCCCCAGCCATTCCTCTACCAGTGAAGGCTCAAGTCACACCTTGAGTACTCAGCCCTTCTTATCCATGGGGGTTTTGTCCTTCTTTAGCACTATTCTTTTTTTTTTTTTCCCTTTAATCAAGCAAATCTATCACACACATTGAGTACCTTGTCAAGAACTGTCTTATTTTTATTTCATGCATTCCCTGCCTTTATGTGACAAGCTAATCAAGGGCAGGGTCACCTCTTAAATAATTCTTGATATTTTCTGTGATAACCACCTATAATGCTATGCACTTAGTAGCTTTTAAATAGTTATTACTTTGAAACTGGGCTTCAAATGCATCTTCATTTTGATCTAGAGATTGCCATTCATCTTTGTCATCAGAAATATCAGGAAGTGTAGGAGCCTGAAACATATTCATGATGAAACCTTAAAGAACAAAAAGAATAATTGTAAACAGGTTGCAAAAGAGCTTTCATTAACTTGTCATCAGGTGCTACACACTCAGATAAAATACTTTACCTAATGCTTCTTTTGTGTGCACGGTGGGTGATGGCTGCACTTTGGATGGCGTTGCCTGAACCATTCCCAGTGATGTGTTTGGAGTTGTGTGAAAAGAACTTGTGTTGGCAACCTTATGTGTTTCACACCCTAGCAAAGAAATGGAGACAAAATGTGGTATCAGTAGGGAAATCAGAATAACTTAAAAGACACACAATTTAAGTAAGTTACAATTAAAACAGTTTGTCATTGTTAAAAATTATCACTAAGAATTTCCAGTATTATAGTGCTTTCATATATTTCATTTTTATCTTTATAATAGTCCTATGAAGTAAATGAGGTGAAAATTATCCTTTTACAGAAAAGGAAATGAAGGCTGAGAGAGATTGAGTGGTTGGTCTGGATTATACCAGATTAGCAACTTTGTCATAAATTATACCCTTAGTGCCACTGTATCCCAAGTTCATAGTCACAATGTAAATCTTAAGATTGGCTTCCCATCTCATTCCACTGCAGTCAGGCATAGAATACAAGGCCCTGCACAGCCTGGGTCCTGTTTGGTCAGGCCTCACCTTCCTCCTCTCCCTGCTTACCTCCCCACATTGGTCCCTTTGCTGTGCTTAGAATATATCAGAGATTTTCCTGCTTGAGGGCTTAGCACTTAATATTCCCTCTGTCTGAAAAGTTGCCCAAGCTAATGGCATGGTAGCTCCCTAACTTTAGCCCTTTACCCAAATATCACCTTGACTGAAATTTCAACCCCATAACTCCAATAGTACATTTCTTTCCCCCTCTGTGTGGGTGGAGATTTTTTGTTCATGACTTCATCCCTAACTATGTATAACAGTGCCTGGCACCTACAGAGCAGGCTCAGTAAGTCTTGGTTCAGTTAATGAACCTCCAGCTATTTCAAACAGCCCTCCTCCTCACCAAACTGTCCAGAAAAAAAATGTCCCAGTCACACAGCGGAGAAGTGAAAGCCCAACCTGTGCATCTTATTATTTATAAGACTTATCTCCTATGCAAATGCCTCTAACAAAGTAGTACCGAATAACAGTGTAACACTCCTAATTAAACTTTTGATAACCTTTCCTACCTAACATACTAAAGATGACTCTGTTTTGGATTAATTTCCTGAGAAATTTACTAGAAATGTATTCACAAATTACATTTCCAAAGAATGTTAAAGAAGATGAGACTAACAAGTGGATTTCTACATTTATTTGAAATGGTTCAGGGATAAATAACCTATACTCTAAGAATAGGAAATCTAACACTCAGGTTCATTAAGGCCTGAAGCCTTCATAAACCACAGCCACAAAATACACCTCTGAGTGATACAGAGGAATCTGGACAGAAACACATTTATTATAATTAAACATTACCTTCTTTGATCTCTGCTCCACTCTGTGGCTTGAATTCATGAGTACTCTTATTCACACATCTGGAAGAGAAAACTCTTGAGACACACTAGAGAATAAAATGCTTGATCTAGGCTGGGTGCGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTACTAAAAATACAAAAAAACATTAGCGGGGTGTGCTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAACAAAAAAAAAACAAAACAAAAAAATGCTTGATCTATTAGAATTTTTAACTGACTCTCAAGAAATAATAGTAGAAAGAAAAAAGAATCAGTCAATAATTACAAGCCTGTTAAAATACAG
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GAGTCTGTCATTGTCTATTGGCCTTTCCGAGTCTTTTTTGTACTGACACTTTTGAACACTAGTCAGAAACTCCGTAGAATGTCCCTACACAGTTTGGGCTTATTTGATGTTTTCTCATGATTAGACTGGGGTTACAGATTTTTGGGAAGGATATCAGAGGTGAAATGTTCTTCTCATTACATCATATTAGGGGATATCTGCTGTCAACATGACTTATTCCTGGTTAACCCAATCACTTGATTAGGCAGAATCTCCCATGTTTCCCTACTGTAATCTAATTTTCCCTTTCCCTTTGCTTTTTGTCTGAAGCAAGTCACCAAATCTAGCCACACTCAAAAGGAGATGAATTAAACTGGAGGAAAAAAATTCAAAGAATTTGTGGATAAATGTGAAACCACCACAGTAATGAATATTAATAAATAATTTTGGTAGGACACTTGGAAAATATGCACATACCCTGTTTCTTCTTGAATAATTATTAAATAATGTCCTAAAAGAAACATATTCTTCCTATGTTTCATAGTTTTTAGCATAGTTTCACATACACAATATCCTCTGACTGGCATAATCATTTGGTAGAATAAAGCGGATGGGTTGTAGGACCCATTTCATAGATAAAACAGGTTTGTTTACCTTTGGTTTTGAAGGAAGTCTGCTGACAGAGCGTTCTCCAAAGGTCCTGGCTCCTGTGGGTTTATTTTTAGGCTGTGGTAATCTAAGGAAAGATTTGCTAAATTATAAATAGTAAAATATGCTAAGGAAATAAATGCTATCACTTGACCATTAGAAAAGTTCTCTACTTATCCTATTTAATGAGTTAATCTTTATATAGATATTCCTTGCTTTTATAGCAGTTCTAGCAAAACTGAGTGTAATCAAATTAACATGACTTATAAAAGTAGACCTATCATTACTTGAGGGTGGGAAGTACAGAAATTTCTGTCACATAACTTTTAGAAGCCAAAAATGAATTCCTGCAGTACTGTAAATCTGGAGAACTTTGGCAACACCCCCCTGGTTGTGTGGTCAAAAGGCTCATTTGACCATGTGATTGGCAGTTCACATTCTCTCCTCACCACCCCACCACCTCTGGTCCCAGAGAAAACTCGGCAGCATCCCATTAACTAGATGGTATTTTTTTACCCATAATTTTCTTTGTTTCCATCTTCAAACACATGAAAAGCAGATGACAAAGAAGAGATGATCTTATTGACTCCCCAAGCCCCAGATGACCTTACATTTTCTGCAACAGAATAAAAAATAGCATCTAATTATTGTACTAGGAAAAAACATCCTTTATATTAAACTTCAACTACAAATAAGAAAAAGGACTAACAGCTGACAGAAAAGAACTAATATCAGCTTTTCAAATACTAGGCAGTAAGTCACTATAGTGAGATGAAGTGACTTAACTATGGTAACAGGGTTTTGTACTCAAGTCCCAGGTCACGAGTCCCTGCCACATATCAGCAAGGTGTTAATCATTCTCCTAAATCAGTACTATTGTCACCTGACTCACTCAATAAACGCTCTCAGGGTTTCGTTTTCCATTTCCTTCAAGAAAGAATTAAGCTCTTAGCTTTACATTTCAAGTCCTCCTGAGTCTAATTGGCTTCTACTTATCTTTATCATGATCTCTGGCTTCTAGCATGAATCCCCTGACTCTAGACAAATGTGGGCTAGCTGCCAGCCTCCTCTAATACTCTGCCCCAGCCATTCCTCTACCAGTGAAGGCTCAAGTCACACCTTGAGTACTCAGCCCTTCTTATCCATGGGGGTTTTGTCCTTCTTTAGCACTATTCTTTTTTTTTTTTTCCCTTTAATCAAGCAAATCTATCACACACATTGAGTACCTTGTCAAGAACTGTCTTATTTTTATTTCATGCATTCCCTGCCTTTATGTGACAAGCTAATCAAGGGCAGGGTCACCTCTTAAATAATTCTTGATATTTTCTGTGATAACCACCTATAATGCTATGCACTTAGTAGCTTTTAAATAGTTATTACTTTGAAACTGGGCTTCAAATGCATCTTCATTTTGATCTAGATATTGCCATTCATCTTTGTCATCAGAAATATCAGGAAGTGTAGGAGCCTGAAACATATTCATGATGAAACCTTAAAGAACAAAAAGAATAATTGTAAACAGGTTGCAAAAGAGCTTTCATTAACTTGTCATCAGGTGCTACACACTCAGATAAAATACTTTACCTAATGCTTCTTTTGTGTGCACGGTGGGTGATGGCTGCACTTTGGATGGCGTTGCCTGAACCATTCCCAGTGATGTGTTTGGAGTTGTGTGAAAAGAACTTGTGTTGGCAACCTTATGTGTTTCACACCCTAGCAAAGAAATGGAGACAAAATGTGGTATCAGTAGGGAAATCAGAATAACTTAAAAGACACACAATTTAAGTAAGTTACAATTAAAACAGTTTGTCATTGTTAAAAATTATCACTAAGAATTTCCAGTATTATAGTGCTTTCATATATTTCATTTTTATCTTTATAATAGTCCTATGAAGTAAATGAGGTGAAAATTATCCTTTTACAGAAAAGGAAATGAAGGCTGAGAGAGATTGAGTGGTTGGTCTGGATTATACCAGATTAGCAACTTTGTCATAAATTATACCCTTAGTGCCACTGTATCCCAAGTTCATAGTCACAATGTAAATCTTAAGATTGGCTTCCCATCTCATTCCACTGCAGTCAGGCATAGAATACAAGGCCCTGCACAGCCTGGGTCCTGTTTGGTCAGGCCTCACCTTCCTCCTCTCCCTGCTTACCTCCCCACATTGGTCCCTTTGCTGTGCTTAGAATATATCAGAGATTTTCCTGCTTGAGGGCTTAGCACTTAATATTCCCTCTGTCTGAAAAGTTGCCCAAGCTAATGGCATGGTAGCTCCCTAACTTTAGCCCTTTACCCAAATATCACCTTGACTGAAATTTCAACCCCATAACTCCAATAGTACATTTCTTTCCCCCTCTGTGTGGGTGGAGATTTTTTGTTCATGACTTCATCCCTAACTATGTATAACAGTGCCTGGCACCTACAGAGCAGGCTCAGTAAGTCTTGGTTCAGTTAATGAACCTCCAGCTATTTCAAACAGCCCTCCTCCTCACCAAACTGTCCAGAAAAAAAATGTCCCAGTCACACAGCGGAGAAGTGAAAGCCCAACCTGTGCATCTTATTATTTATAAGACTTATCTCCTATGCAAATGCCTCTAACAAAGTAGTACCGAATAACAGTGTAACACTCCTAATTAAACTTTTGATAACCTTTCCTACCTAACATACTAAAGATGACTCTGTTTTGGATTAATTTCCTGAGAAATTTACTAGAAATGTATTCACAAATTACATTTCCAAAGAATGTTAAAGAAGATGAGACTAACAAGTGGATTTCTACATTTATTTGAAATGGTTCAGGGATAAATAACCTATACTCTAAGAATAGGAAATCTAACACTCAGGTTCATTAAGGCCTGAAGCCTTCATAAACCACAGCCACAAAATACACCTCTGAGTGATACAGAGGAATCTGGACAGAAACACATTTATTATAATTAAACATTACCTTCTTTGATCTCTGCTCCACTCTGTGGCTTGAATTCATGAGTACTCTTATTCACACATCTGGAAGAGAAAACTCTTGAGACACACTAGAGAATAAAATGCTTGATCTAGGCTGGGTGCGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTACTAAAAATACAAAAAAACATTAGCGGGGTGTGCTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAACAAAAAAAAAACAAAACAAAAAAATGCTTGATCTATTAGAATTTTTAACTGACTCTCAAGAAATAATAGTAGAAAGAAAAAAGAATCAGTCAATAATTACAAGCCTGTTAAAATACAG
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Task1_train_3962
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Given this variant in gene BUB1 (BUB1 mitotic checkpoint serine/threonine kinase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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CTGCCTAAAAAGCAATATTTACTTCTAGCTATCACCTCGGTATATGAATGAAATCAATGTTTCTTATGACTCAAAATCCAGAAGCCACAAAAGAAAAGCTAAATAAAGACAACTATATATAAATAAAAACTTCTCCATGGCAAATAACCAAAACAAACAAAAAAACCACAAAATAGTCAAAAGAGAAATGATAAACTGGAAAAACAATGAGCTTTTAGAAGCTGAGAAAAAAACTATTAACCTATTTTTTTTTAATGAGCAAAGGGCATAATAAATTATTTCACAGAAAAAGATACATGGCTCACAAACATGAAAAATGTTCAGTCTCTCATAACAGAAATTCACTTCGCTGAGAAACAATTCTTCACTCATCAGATTGGCAAAACTAAAAAACATGTGAAAAGATTGTGTAGGTGCAGCAATAAGAAACAGGCTCTCTGTCGCATCTTGCTTGTAGGTGGGCATGTGCTCAATTCCTGCCAAGGGAATTATCTACCAAAACTGGACTGATTTGCTTTTGATCCAACAAACCGCTTCTGCAGATCTAGAAGACACATACACATGTGTATCCGCAAAATGTTATGTACAAGATTTTTCACCGTGCCACTATTTGAAACAGATTGTCAACAACCTGTGTTGACTGCTTAGATCAATTAGGGTACATGAAGTATTACACAGCTGTAAAAAAAGAATAAGAAAGAACTTTATGTATTGGTAGAGATCTCCAGGGATATTGTTAGGCAAAAGAGCAGCGTATATATATACTGTTATATTTTATGTGTGGTAAAGGCAAAAAATGTATACAAACGTGCAGACATTTAATATATTATAATAATGTAAATATTTATATTTCCAAAAAGAAACTAGAAAAACGGTTACATGTGACAGAGTGGGACAGTAGTCAGGTACAGGAGTTCTCGGTAAATACTGTTCTAAATCTTCTTTTAGTCATATAAACGCATTGCTTATTTTTAAAACTAAAAAAAATAATAATTCTGAAGTTTGAATGTCTCTCATGTCTTATAGCAGAGGGACAAATCCCTATTTCAGAACCTTTCTTCCAAAATATGTCTAGTAGGCTCGCCCAAGGTAAACATTTCATATTCTAACACCAACCACATTTCTCTAGTAAAATGACCTAAATGCACTGTAATAGTAAAACATCCAGTTCATTAAAGCACATTAATCTTTAGTAAGTCAAAACAGGACCAGGAATATCTGCTTTACCTTTAAAAAAGGGGCGGGGGACTTCTGAAAGAAAATAATTTGCTGGCTAGGTTGAAGGTTACAGAAAAAGTCTTAGAGCAAATGGATTTTTGTTTTGACTGCATTTAACAATCTCGGTCTTCTGATCGCAAAGAACTGATAAAACGGACCAGTTTTACTTCCTGAACCTATGACTTAATTGTTTTAAATGCCTTTAAGTAACAGTCTGGGTAAATCATCTAAGTCATAAAACAAAGGCGTGGGAACTTTAAGTAAAAAGTGAGTGATGTTAGCAGGTTGGCACACATCACTCAATAATGAGCAAAGCTATTTTTTTTCAATTTTTTTTTCTTAAAGTACCCTGTATTCAAAGACTTTTAAAAAATAGCAGTGAGATTATGGATAGGAGAGCAACTTTAAATTCGTTCCCTACTGTAGTCGAATTGTTAAATACGTGACTTTGAAAACGTATCACAAAATCTAAACACAAGGTTCAGGATTTTTGTTAGGTTGAACTGTCAGGAGGGGATTCCTTACAAAGAATAAACGAGAGCTCTGAGGGCCTAACGAATTATCCAGATTGCTCCAAACGGCCACCGCGGCGCAGATGGGCGGACAAGCGCCGGGCCTCAGCGGAACCCAAGGTGCCGGAGCCCTCCCCGGCTCTCAAGCAGCCCACGGCCTTGCTGGGTGGGACACATTCCAAACCCAGGAAGGGGGCGAAGGGGGCAAAAGAAGGCAGGTCTGGGGCGGGCCGGGCCCGAACCCCAGGCGCCCCAGCCCCCTGGGCTTCCCCACCCCACCAGACGGACACTTACTGAAGGACATTTTCCGGGGTGTCCATGGCCAGAGGACGCTGGCCGGCAGCGGCCAAACCTGAACCGCAAACTAGAAGCCGCCGCCGATTCGAATACCCCGCGCAGCCGCAGTCGGCTCGCCGAACGTTTCAGGGCGCCTGCCCATTGGTGGCGGCGGCAGAAGGTTGGCCAATCACCGGGGCCGTTGCTCGGAGGTCAAGTCCCACCTCCCTCCCTTGAGCCAGTAGCTCCTCCCACTTCCCGTGGTTTTCGGTTGAACCGAAACCTGGCCGTTGGCTGAGCGAGCGCGGGGTGTTTGGGATGCGGCACGGCGAGGGGGAGCAGGCTTGGCTCGGGCGTAGGGAATTGGTTTTTTTGTTTTAGCTATCCAGGTTGTGACTGGTTTACATAATTACACGATTAAGCCATCATTGTAGGAAAGGCTTTGCAGGAGAAAAATGTCTTAACTGGAGGTCTTTGAGACAGAAAAACCCTGCCTCAGCCCTTGGGTCCTGAGAGTCGCGTTTCTTCTCCCCTTCGCTTAAATATGTAAACCAGAATCATTATGTTTGGTTCATGGAACGGAGGAAAAAAATCCGTGTGCAGGGTCGAGACTGTCGTGGCGGAAGCCGCAGCACCCGGGAGGCAGGTGGGGAGAAAAAACGGGACCTGCTGCCGGGGACCCCTCCCGCTTTCTGGCAGTTTTCTATTCAGCGTCCTCGGCTGTGAGAAAACATCCCAGATGCTGAAACCAATAGTCTTAGCCCAGAATCTCAAACGCCGTGGCAAAGAGGGAGTGACGACGGCCTGTGGAAAAACCTGAGGAGTTTTGGGCTTAGCGCCTTCATGTAGAGGGGACGTGGAGGCGGGGAGGGCGTTCTAGGGTCGGCTGCGTAATTATACGAGGCACTGGAAAGTGATGGGTTAGTGTCCTTGGAGTAGACCCCTGGGTTTTATTGAACTGATCTGAAAGGCTGGGCCCTGAGCCACACAGGGGACCTGTCAAACAGCTTCAAGCGGAAGATGGGGCTCACGGGACTGGACTCTCTCTGCAGCCAGCTGTAATTAACACAAAAGCAGAAGAGTTTGGGTAGATTATAGAATGCCAGCTTTGAACATCTTTTGGGGGACAGGGCACTCTGGGAGACCAAGTTCTTAGACACCATAAAATCAAAAATAGACACCTCTTTGTAGAGGAGTCCAGATGTCTAAAGAGGAAATATGTAATAGGCTGATGTTTCTTTTGTTTTTTGTTTGTTTGTTTTTTGAAAAGTTAAAATACTAAGTTTATAAAGTGAAAAAGTTACAGTAAGCTAAGGTTGACTTATTGGAAAAAATGTGCTTATACTATGGAATGAGACCACCACTTCTCCTGTTGTCCCTCCCAGCTTCTTCTCCACCACCTCCCCTTTTCCCTAGTTTATAAGACAGGAGAAAAGTGAGACAGCAAAAAGTTAGAAAGAAACAGAAGTAAGATAAATAGCTAGACGACCTTGGCGCCACCACCCGGCCTTGGTGGTTAAAATAATAATAATAATGTTAACCCCTGACCAAAACTACTTGTGTTATCTGTAAGTTCCAGACATTGTATGAGAAAGCGCTGTAAAACTTTTTGTTCTGTTAGCCGATGCATGTAGCCCCCAGTCACGTTCCCCACGCTTGCTCCATCTATCACAACCGTTTCACATGGACCCCCCCCTTCAAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTTGGGGAGCTCGGCTTTTAAGATGCGAGTCTGCCAACGCTCTCGGCCGAATAAACTTCTTCCTTCTTTAATCCAGTGTCAGGAGTTTTGTCTGCGGCTCGTCCTGCTACAATATGTATATCAAGGGTTTCTTGTTGGTGTCTGACACAGACACAGAACCACTGATGCCCAAGCCAGTGCTCTCTACACACAGAAGCCTCCAACCTCATCTTGAGAAACGGGGCCATGAGGCCACCCCAGACACCGAGGGCTCCATGGAGGCTGGGGGGTCCGTGGGACTGGGCACATCCCAGCGGGTCTTGGATCCTGGCCTTTCCCCTTCTTGATGCCAGGACCTACTGAGTGCTCGCAGGTG
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CTGCCTAAAAAGCAATATTTACTTCTAGCTATCACCTCGGTATATGAATGAAATCAATGTTTCTTATGACTCAAAATCCAGAAGCCACAAAAGAAAAGCTAAATAAAGACAACTATATATAAATAAAAACTTCTCCATGGCAAATAACCAAAACAAACAAAAAAACCACAAAATAGTCAAAAGAGAAATGATAAACTGGAAAAACAATGAGCTTTTAGAAGCTGAGAAAAAAACTATTAACCTATTTTTTTTTAATGAGCAAAGGGCATAATAAATTATTTCACAGAAAAAGATACATGGCTCACAAACATGAAAAATGTTCAGTCTCTCATAACAGAAATTCACTTCGCTGAGAAACAATTCTTCACTCATCAGATTGGCAAAACTAAAAAACATGTGAAAAGATTGTGTAGGTGCAGCAATAAGAAACAGGCTCTCTGTCGCATCTTGCTTGTAGGTGGGCATGTGCTCAATTCCTGCCAAGGGAATTATCTACCAAAACTGGACTGATTTGCTTTTGATCCAACAAACCGCTTCTGCAGATCTAGAAGACACATACACATGTGTATCCGCAAAATGTTATGTACAAGATTTTTCACCGTGCCACTATTTGAAACAGATTGTCAACAACCTGTGTTGACTGCTTAGATCAATTAGGGTACATGAAGTATTACACAGCTGTAAAAAAAGAATAAGAAAGAACTTTATGTATTGGTAGAGATCTCCAGGGATATTGTTAGGCAAAAGAGCAGCGTATATATATACTGTTATATTTTATGTGTGGTAAAGGCAAAAAATGTATACAAACGTGCAGACATTTAATATATTATAATAATGTAAATATTTATATTTCCAAAAAGAAACTAGAAAAACGGTTACATGTGACAGAGTGGGACAGTAGTCAGGTACAGGAGTTCTCGGTAAATACTGTTCTAAATCTTCTTTTAGTCATATAAACGCATTGCTTATTTTTAAAACTAAAAAAAATAATAATTCTGAAGTTTGAATGTCTCTCATGTCTTATAGCAGAGGGACAAATCCCTATTTCAGAACCTTTCTTCCAAAATATGTCTAGTAGGCTCGCCCAAGGTAAACATTTCATATTCTAACACCAACCACATTTCTCTAGTAAAATGACCTAAATGCACTGTAATAGTAAAACATCCAGTTCATTAAAGCACATTAATCTTTAGTAAGTCAAAACAGGACCAGGAATATCTGCTTTACCTTTAAAAAAGGGGCGGGGGACTTCTGAAAGAAAATAATTTGCTGGCTAGGTTGAAGGTTACAGAAAAAGTCTTAGAGCAAATGGATTTTTGTTTTGACTGCATTTAACAATCTCGGTCTTCTGATCGCAAAGAACTGATAAAACGGACCAGTTTTACTTCCTGAACCTATGACTTAATTGTTTTAAATGCCTTTAAGTAACAGTCTGGGTAAATCATCTAAGTCATAAAACAAAGGCGTGGGAACTTTAAGTAAAAAGTGAGTGATGTTAGCAGGTTGGCACACATCACTCAATAATGAGCAAAGCTATTTTTTTTCAATTTTTTTTTCTTAAAGTACCCTGTATTCAAAGACTTTTAAAAAATAGCAGTGAGATTATGGATAGGAGAGCAACTTTAAATTCGTTCCCTACTGTAGTCGAATTGTTAAATACGTGACTTTGAAAACGTATCACAAAATCTAAACACAAGGTTCAGGATTTTTGTTAGGTTGAACTGTCAGGAGGGGATTCCTTACAAAGAATAAACGAGAGCTCTGAGGGCCTAACGAATTATCCAGATTGCTCCAAACGGCCACCGCGGCGCAGATGGGCGGACAAGCGCCGGGCCTCAGCGGAACCCAAGGTGCCGGAGCCCTCCCCGGCTCTCAAGCAGCCCACGGCCTTGCTGGGTGGGACACATTCCAAACCCAGGAAGGGGGCGAAGGGGGCAAAAGAAGGCAGGTCTGGGGCGGGCCGGGCCCGAACCCCAGGCGCCCCAGCCCCCTGGGCTTCCCCACCCCACCAGACGGACACTTACTGAAGGACATTTTCCGGGGTGTCCCTGGCCAGAGGACGCTGGCCGGCAGCGGCCAAACCTGAACCGCAAACTAGAAGCCGCCGCCGATTCGAATACCCCGCGCAGCCGCAGTCGGCTCGCCGAACGTTTCAGGGCGCCTGCCCATTGGTGGCGGCGGCAGAAGGTTGGCCAATCACCGGGGCCGTTGCTCGGAGGTCAAGTCCCACCTCCCTCCCTTGAGCCAGTAGCTCCTCCCACTTCCCGTGGTTTTCGGTTGAACCGAAACCTGGCCGTTGGCTGAGCGAGCGCGGGGTGTTTGGGATGCGGCACGGCGAGGGGGAGCAGGCTTGGCTCGGGCGTAGGGAATTGGTTTTTTTGTTTTAGCTATCCAGGTTGTGACTGGTTTACATAATTACACGATTAAGCCATCATTGTAGGAAAGGCTTTGCAGGAGAAAAATGTCTTAACTGGAGGTCTTTGAGACAGAAAAACCCTGCCTCAGCCCTTGGGTCCTGAGAGTCGCGTTTCTTCTCCCCTTCGCTTAAATATGTAAACCAGAATCATTATGTTTGGTTCATGGAACGGAGGAAAAAAATCCGTGTGCAGGGTCGAGACTGTCGTGGCGGAAGCCGCAGCACCCGGGAGGCAGGTGGGGAGAAAAAACGGGACCTGCTGCCGGGGACCCCTCCCGCTTTCTGGCAGTTTTCTATTCAGCGTCCTCGGCTGTGAGAAAACATCCCAGATGCTGAAACCAATAGTCTTAGCCCAGAATCTCAAACGCCGTGGCAAAGAGGGAGTGACGACGGCCTGTGGAAAAACCTGAGGAGTTTTGGGCTTAGCGCCTTCATGTAGAGGGGACGTGGAGGCGGGGAGGGCGTTCTAGGGTCGGCTGCGTAATTATACGAGGCACTGGAAAGTGATGGGTTAGTGTCCTTGGAGTAGACCCCTGGGTTTTATTGAACTGATCTGAAAGGCTGGGCCCTGAGCCACACAGGGGACCTGTCAAACAGCTTCAAGCGGAAGATGGGGCTCACGGGACTGGACTCTCTCTGCAGCCAGCTGTAATTAACACAAAAGCAGAAGAGTTTGGGTAGATTATAGAATGCCAGCTTTGAACATCTTTTGGGGGACAGGGCACTCTGGGAGACCAAGTTCTTAGACACCATAAAATCAAAAATAGACACCTCTTTGTAGAGGAGTCCAGATGTCTAAAGAGGAAATATGTAATAGGCTGATGTTTCTTTTGTTTTTTGTTTGTTTGTTTTTTGAAAAGTTAAAATACTAAGTTTATAAAGTGAAAAAGTTACAGTAAGCTAAGGTTGACTTATTGGAAAAAATGTGCTTATACTATGGAATGAGACCACCACTTCTCCTGTTGTCCCTCCCAGCTTCTTCTCCACCACCTCCCCTTTTCCCTAGTTTATAAGACAGGAGAAAAGTGAGACAGCAAAAAGTTAGAAAGAAACAGAAGTAAGATAAATAGCTAGACGACCTTGGCGCCACCACCCGGCCTTGGTGGTTAAAATAATAATAATAATGTTAACCCCTGACCAAAACTACTTGTGTTATCTGTAAGTTCCAGACATTGTATGAGAAAGCGCTGTAAAACTTTTTGTTCTGTTAGCCGATGCATGTAGCCCCCAGTCACGTTCCCCACGCTTGCTCCATCTATCACAACCGTTTCACATGGACCCCCCCCTTCAAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTTGGGGAGCTCGGCTTTTAAGATGCGAGTCTGCCAACGCTCTCGGCCGAATAAACTTCTTCCTTCTTTAATCCAGTGTCAGGAGTTTTGTCTGCGGCTCGTCCTGCTACAATATGTATATCAAGGGTTTCTTGTTGGTGTCTGACACAGACACAGAACCACTGATGCCCAAGCCAGTGCTCTCTACACACAGAAGCCTCCAACCTCATCTTGAGAAACGGGGCCATGAGGCCACCCCAGACACCGAGGGCTCCATGGAGGCTGGGGGGTCCGTGGGACTGGGCACATCCCAGCGGGTCTTGGATCCTGGCCTTTCCCCTTCTTGATGCCAGGACCTACTGAGTGCTCGCAGGTG
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Task1_train_3963
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Here is a variant affecting MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Retinal dystrophy
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ACTAAAAACATAAAAATTACCCGGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGTTTGCAGTGAGCTCAGATCGCGCCACTGCACCACTCCAGTCTGGGTGACAGAGCACGACTTCGTCTCAAAAAAAAAAAAATTCCACACTGCCATCATGGATATCCTCAAAAGAGTGGTAGGAGGAGTACAGTGGAAAATTAAGAGCAGCACACAAGATCAGAATGAGCAAAGACCAAATGATCTGGGAGCATACCTATGTTTTAAGAAAAGCAGATTGTCTCACATGGCAACAGCAAAGCAATGGAAGGATAGGAGGAGGGGTGATAAAACAGGAAAGAGAAGTTGGGGTCAATGTTTAGGTTCTACAACAAGTAGAATGACTTCACCAGCATGTAATACAAAACCCAACTCAAAATGACTTTCAACGGAGATACAGGATCTCATGCAATAAAGCCCAGAAGTAGCACAGTTCCAGAGTTGGCTAGGTGGGTGCTTGAGGAATTAATTGAGAAATTAAAGGGCTACAATTGCATTTGTAGCCCAAGCTATTAAAACAGCTCCTACACAAGAAGAAGGAGGAGGAGAAGAAAGAATTTTCTTAATTTCATTTTCAGATTATTCATCACTAGTATATAAAAATACAGTTGATTTTTGTATGTCCATCTTGTATCCTACAACCTTGCTGAACTCATTTATTAATTCTGCTATACAATTATTTTTTAAGTGACTTTTGGTCACAGTCTCCAGGAATAACAGAAGTGTTCTAGGAAAAAACAGCACAAATGAATAGTACCTGATACTCATTACATCTTCATGAATGACAGCAAGATGCAATATTTCTTATGACCCAAATCCTTTCCTGGAAATCAGTATCTAGAAAACCAAATACCCAAATAATACAGAATAGAGGCATAAAACTTCCATACTTAAAGATTAAGACATTTCATTTATTTATACAGTATGTAATTGACATGTGTCTTGGAGTATAAAATCATTGAAAATGCAATGTCTTTCCAAAATGAGTACCATTTTGGAAAACTCATGTTTGGAAAGGAAGCCATGGCAAATTCAGTGCCTTGGGGAGGGTACATAATGGATGGACCCATTCATGACTGCCAGGGACTTGTGCAAATCCTTTTCTGCAGGGCCATGATTGCACTAAAACACTTAATTACTACATGGAAGTTTTATCAGCAGTCATCCTCATAACTGATTCCAACAGTGGCTGGTTTTCTAACACAGCAATCTAGTTTGATTTTTATAAGCTAGAGAAAACACTAGACTGTTGAAACTTATAGGCAGGGCCTACGGGAGCAAAATGAAAATTCCTGAATATGTACTTGTGGTGCTTTGGTCCTGTGATAATTGGTGAAGACTCTCCTAATTTCTGTTTAGAAGAAACGAGTATCTTTCAAAACATTTCGTAGTAAAATGGTAGCAGATAGGGGTGCCTAATTGGAAACAGCTCATCCTAAGTGGACTTTTCCCCTCCGAAACATTAGACCCCTGACACACACACACACACACACCTCGCCGCTGCTGAAGCCAGACCACCTGTCCCTTTCCCTCCTCTGTGCAATGCGTGTGCTCTGTCCCACTCTGAAGGATACACGGAAGGATCACGTTTGACCTCATACCTTCTAAAAAGAAACAATGTCATTCACTGTAAATACTTTTAAAGATGGGGAAAAGAGAATATGATGTTTGCCAAGAAGTTTAAGGTTTTTCTCATTCCTTTTTAAAAACCTTATTTGTGATATTAGTGATATGGAAATAAAAGATTTGTTTCCTTATTTCATCACTACACTGTAATAAATTAAAGCATCCTTTCCCCCCCCGGCAGAAACTGCTTGCAAGTTTTCCTTTTTAAAAGATAGTCTTTCTTCTTGTTTCCTCTATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCTTCCAAAGCTTTCCCTTATGACTCCAGTTTTACCTTCACTCTCTCACTCGGTAGGAATGCAAGGTGTGACCCTTGTGATCCTTCCCCAGCCATCAGCTAGCTTTGGACCTAGAGTTATGTGTACGTCAGCTCCTCTTAAAGACAGCAGTGAAAATCATAAAGGCTTTTCCCTAAGTTTTCACAACACTTCCTTAGGAAGAAGTTTTGTACTTTGAATACATGGAAGCTGTCCTTTCACAGCAGACAATGGCTTCATTATACAAGAAATGTGGACTTAGGTTCTCCCTATTTCTTCAACCTGCTTCAGCAGAGCCATTGTCTGCTGTAAATCTTCAAAAACAATAACTATGTCTTGATTTTAAGTTTTTTATTGCAAGAAGAGGGAGTGGTCCTTCAATGTATTTTGTCATTTGTTTTTCTTGGTCAGAGATGTGACAATGGGGCCTGCCCCCTCCCGCCTCCCAGCCGACCCTGCCCCTAGGGCTCCTACCTCTTTCACCTCATTTTTGAAAACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTTGGGCTACAAATGCAGTTGTAGCCCTTTAATTTCTCATTTAATTCCTCAAGCACCCACCTGGCCATCTTAGCAAGAAGCCCAGCATCTTGCTCTTACTGCAGGTAATTCCCCATCTTCCCCAAACTCTCAGGGGGCTTACTTAGTCCTCAGGGCCAGTGCTGCTTCCAGACCTCTGGGAGGAAGGCTGCTGGGGTCCTGGATCAGTCCACCAGAGGGCTCTGGTTTTGAGCTGCTGCTCTTTCTGCTCCTGCTATGCTGCGTCTCCATGTTCTCCAGCTGTTTCTATCCACTGTGCACAGGTGCCCTTGCTAGTCCACATCCCACACAGATCAGAGCGATGCAAGACTGCATCACTTGAGGCTAGGCGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGAATGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGACACTCCATGTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGCTGTGGTAGTGTGTACCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCGGGAAGCAGAGTTTGCTGTGAGCCGAGATCATGCCACTGCACACCAGCCTGGGTGACAGGGTGAGACTCTATCTCAAAAGTCTCAAAAAAAAAATTGCATCACTTGCTCTTGCTCTTGCTCTGCTGTTGGTCCTCACTTGCTCTGCCATTGGTCCCAATGCAGCATGCTCACAGGCTGGTGGTGTCTCTGTGTTCTTTTGGTCAATTATCATAAGTGTTTTCACCTGTGTCTGATACAGACCAGTAATTTAAGGCATTGCCTCTGACGCTGCTGAAGACGTAACCTGCTCTCTGTAGGTTGCGAGATGACATGACTGTCTGTGTTGCGGACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCTAAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTC
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ACTAAAAACATAAAAATTACCCGGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGTTTGCAGTGAGCTCAGATCGCGCCACTGCACCACTCCAGTCTGGGTGACAGAGCACGACTTCGTCTCAAAAAAAAAAAAATTCCACACTGCCATCATGGATATCCTCAAAAGAGTGGTAGGAGGAGTACAGTGGAAAATTAAGAGCAGCACACAAGATCAGAATGAGCAAAGACCAAATGATCTGGGAGCATACCTATGTTTTAAGAAAAGCAGATTGTCTCACATGGCAACAGCAAAGCAATGGAAGGATAGGAGGAGGGGTGATAAAACAGGAAAGAGAAGTTGGGGTCAATGTTTAGGTTCTACAACAAGTAGAATGACTTCACCAGCATGTAATACAAAACCCAACTCAAAATGACTTTCAACGGAGATACAGGATCTCATGCAATAAAGCCCAGAAGTAGCACAGTTCCAGAGTTGGCTAGGTGGGTGCTTGAGGAATTAATTGAGAAATTAAAGGGCTACAATTGCATTTGTAGCCCAAGCTATTAAAACAGCTCCTACACAAGAAGAAGGAGGAGGAGAAGAAAGAATTTTCTTAATTTCATTTTCAGATTATTCATCACTAGTATATAAAAATACAGTTGATTTTTGTATGTCCATCTTGTATCCTACAACCTTGCTGAACTCATTTATTAATTCTGCTATACAATTATTTTTTAAGTGACTTTTGGTCACAGTCTCCAGGAATAACAGAAGTGTTCTAGGAAAAAACAGCACAAATGAATAGTACCTGATACTCATTACATCTTCATGAATGACAGCAAGATGCAATATTTCTTATGACCCAAATCCTTTCCTGGAAATCAGTATCTAGAAAACCAAATACCCAAATAATACAGAATAGAGGCATAAAACTTCCATACTTAAAGATTAAGACATTTCATTTATTTATACAGTATGTAATTGACATGTGTCTTGGAGTATAAAATCATTGAAAATGCAATGTCTTTCCAAAATGAGTACCATTTTGGAAAACTCATGTTTGGAAAGGAAGCCATGGCAAATTCAGTGCCTTGGGGAGGGTACATAATGGATGGACCCATTCATGACTGCCAGGGACTTGTGCAAATCCTTTTCTGCAGGGCCATGATTGCACTAAAACACTTAATTACTACATGGAAGTTTTATCAGCAGTCATCCTCATAACTGATTCCAACAGTGGCTGGTTTTCTAACACAGCAATCTAGTTTGATTTTTATAAGCTAGAGAAAACACTAGACTGTTGAAACTTATAGGCAGGGCCTACGGGAGCAAAATGAAAATTCCTGAATATGTACTTGTGGTGCTTTGGTCCTGTGATAATTGGTGAAGACTCTCCTAATTTCTGTTTAGAAGAAACGAGTATCTTTCAAAACATTTCGTAGTAAAATGGTAGCAGATAGGGGTGCCTAATTGGAAACAGCTCATCCTAAGTGGACTTTTCCCCTCCGAAACATTAGACCCCTGACACACACACACACACACACCTCGCCGCTGCTGAAGCCAGACCACCTGTCCCTTTCCCTCCTCTGTGCAATGCGTGTGCTCTGTCCCACTCTGAAGGATACACGGAAGGATCACGTTTGACCTCATACCTTCTAAAAAGAAACAATGTCATTCACTGTAAATACTTTTAAAGATGGGGAAAAGAGAATATGATGTTTGCCAAGAAGTTTAAGGTTTTTCTCATTCCTTTTTAAAAACCTTATTTGTGATATTAGTGATATGGAAATAAAAGATTTGTTTCCTTATTTCATCACTACACTGTAATAAATTAAAGCATCCTTTCCCCCCCCGGCAGAAACTGCTTGCAAGTTTTCCTTTTTAAAAGATAGTCTTTCTTCTTGTTTCCTCTATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCAAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCTTCCAAAGCTTTCCCTTATGACTCCAGTTTTACCTTCACTCTCTCACTCGGTAGGAATGCAAGGTGTGACCCTTGTGATCCTTCCCCAGCCATCAGCTAGCTTTGGACCTAGAGTTATGTGTACGTCAGCTCCTCTTAAAGACAGCAGTGAAAATCATAAAGGCTTTTCCCTAAGTTTTCACAACACTTCCTTAGGAAGAAGTTTTGTACTTTGAATACATGGAAGCTGTCCTTTCACAGCAGACAATGGCTTCATTATACAAGAAATGTGGACTTAGGTTCTCCCTATTTCTTCAACCTGCTTCAGCAGAGCCATTGTCTGCTGTAAATCTTCAAAAACAATAACTATGTCTTGATTTTAAGTTTTTTATTGCAAGAAGAGGGAGTGGTCCTTCAATGTATTTTGTCATTTGTTTTTCTTGGTCAGAGATGTGACAATGGGGCCTGCCCCCTCCCGCCTCCCAGCCGACCCTGCCCCTAGGGCTCCTACCTCTTTCACCTCATTTTTGAAAACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTTGGGCTACAAATGCAGTTGTAGCCCTTTAATTTCTCATTTAATTCCTCAAGCACCCACCTGGCCATCTTAGCAAGAAGCCCAGCATCTTGCTCTTACTGCAGGTAATTCCCCATCTTCCCCAAACTCTCAGGGGGCTTACTTAGTCCTCAGGGCCAGTGCTGCTTCCAGACCTCTGGGAGGAAGGCTGCTGGGGTCCTGGATCAGTCCACCAGAGGGCTCTGGTTTTGAGCTGCTGCTCTTTCTGCTCCTGCTATGCTGCGTCTCCATGTTCTCCAGCTGTTTCTATCCACTGTGCACAGGTGCCCTTGCTAGTCCACATCCCACACAGATCAGAGCGATGCAAGACTGCATCACTTGAGGCTAGGCGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGAATGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGACACTCCATGTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGCTGTGGTAGTGTGTACCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCGGGAAGCAGAGTTTGCTGTGAGCCGAGATCATGCCACTGCACACCAGCCTGGGTGACAGGGTGAGACTCTATCTCAAAAGTCTCAAAAAAAAAATTGCATCACTTGCTCTTGCTCTTGCTCTGCTGTTGGTCCTCACTTGCTCTGCCATTGGTCCCAATGCAGCATGCTCACAGGCTGGTGGTGTCTCTGTGTTCTTTTGGTCAATTATCATAAGTGTTTTCACCTGTGTCTGATACAGACCAGTAATTTAAGGCATTGCCTCTGACGCTGCTGAAGACGTAACCTGCTCTCTGTAGGTTGCGAGATGACATGACTGTCTGTGTTGCGGACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCTAAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTC
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Task1_train_3964
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A genomic change on Chromosome 2 affects MERTK (MER proto-oncogene, tyrosine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Autosomal recessive retinitis pigmentosa
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TATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCTTCCAAAGCTTTCCCTTATGACTCCAGTTTTACCTTCACTCTCTCACTCGGTAGGAATGCAAGGTGTGACCCTTGTGATCCTTCCCCAGCCATCAGCTAGCTTTGGACCTAGAGTTATGTGTACGTCAGCTCCTCTTAAAGACAGCAGTGAAAATCATAAAGGCTTTTCCCTAAGTTTTCACAACACTTCCTTAGGAAGAAGTTTTGTACTTTGAATACATGGAAGCTGTCCTTTCACAGCAGACAATGGCTTCATTATACAAGAAATGTGGACTTAGGTTCTCCCTATTTCTTCAACCTGCTTCAGCAGAGCCATTGTCTGCTGTAAATCTTCAAAAACAATAACTATGTCTTGATTTTAAGTTTTTTATTGCAAGAAGAGGGAGTGGTCCTTCAATGTATTTTGTCATTTGTTTTTCTTGGTCAGAGATGTGACAATGGGGCCTGCCCCCTCCCGCCTCCCAGCCGACCCTGCCCCTAGGGCTCCTACCTCTTTCACCTCATTTTTGAAAACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTTGGGCTACAAATGCAGTTGTAGCCCTTTAATTTCTCATTTAATTCCTCAAGCACCCACCTGGCCATCTTAGCAAGAAGCCCAGCATCTTGCTCTTACTGCAGGTAATTCCCCATCTTCCCCAAACTCTCAGGGGGCTTACTTAGTCCTCAGGGCCAGTGCTGCTTCCAGACCTCTGGGAGGAAGGCTGCTGGGGTCCTGGATCAGTCCACCAGAGGGCTCTGGTTTTGAGCTGCTGCTCTTTCTGCTCCTGCTATGCTGCGTCTCCATGTTCTCCAGCTGTTTCTATCCACTGTGCACAGGTGCCCTTGCTAGTCCACATCCCACACAGATCAGAGCGATGCAAGACTGCATCACTTGAGGCTAGGCGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGAATGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGACACTCCATGTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGCTGTGGTAGTGTGTACCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCGGGAAGCAGAGTTTGCTGTGAGCCGAGATCATGCCACTGCACACCAGCCTGGGTGACAGGGTGAGACTCTATCTCAAAAGTCTCAAAAAAAAAATTGCATCACTTGCTCTTGCTCTTGCTCTGCTGTTGGTCCTCACTTGCTCTGCCATTGGTCCCAATGCAGCATGCTCACAGGCTGGTGGTGTCTCTGTGTTCTTTTGGTCAATTATCATAAGTGTTTTCACCTGTGTCTGATACAGACCAGTAATTTAAGGCATTGCCTCTGACGCTGCTGAAGACGTAACCTGCTCTCTGTAGGTTGCGAGATGACATGACTGTCTGTGTTGCGGACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCTAAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTCTACACAAGTAAAAGTGATGTGGTATGTACACAGCTTTGATTCAGGGGTCCCACAGCACAAAGAGGAGGGCATATTGAAAGAAATGACCTCAGCTGGTATGGCAAGACATTTTACTCTTTGATAAACTGAGGGTTGGCAGCTTGCTCAGATCTCTTTTATATCTTACCATCAGATACTTTAATTCAAGTGGAACAGTAGATTCTGATGAAGTGTCCTGACATTCAGAAGATGTGTGCTTTGCAAAAGCCCTTAATTTCTTCCCATTTTTCCTTGCCGTCAAAGGATGACTCATTGCCCACAACTAGGATATTTCATAGTCACATTAAATTGAATGAGTTCATCCACTGGCTCTTGGAACCTAGATGCTATATGAAAGGTGCTGTGTAATTACGCCCTTGACCCGAGATAAGGAAAAAAAAGCACCTCACAGCAACAGTGGAGGAGAGCACTAAGCAGATGTGTGACGAGGCTGTTTCTGCCTTTGCCAGATTTCCCAGAACAGCTTTTGTAGAAGTGGGGAACTGTGACACTCCAACCCCACGTTATTGCCGCGTTGGGAGAGCAGTGCGTCTCACACATAATTGCCAGCTTTGTGCATGATCATCAGTGTTTAAGGAAATGACCTTTCCCAGTGAAAAAGTCCATTCAGGCTTTGTGGAAAGGCTTGCATCCTAACTTGTTGTTGCTTTGTTCCCAGTGGGCATTTGGCGTGACCATGTGGGAAATAGCTACGCGGGGAATGACTCCCTATCCTGGGGTCCAGAACCATGAGATGTATGACTATCTTCTCCATGGCCACAGGTTGAAGCAGCCCGAAGACTGCCTGGATGAACTGTGAGTGGGCTTCTCTGTCTCCCTTCCATACTCTGCATGGGGCAGCCACCTGGCTCTGCACTGACCTCGGAAACACAGCCATGGGAGGGGAAAGGGACTGCTGTTAGCCAGGTGGGCATGTGCAGAGGGGTGGAACCCACAGACACCCCAGCCCAGGAGCCATTCCTGATGTGGGAGATAGTGTGTGGTATCTCCAGTGAGCCCACTGAGGCTCACTCATCCAAAGGGCCTCAGTCTCGAACGACAGGCACGGTCAAGACAAGGCAATGGCACCTGTCCTAAAATTCCTTACACACCTCTAGGAAATATATCCACAGATAATAGCTTCGCCTTGTAGTGCATGAGGTCCTTGAATGATTCCTCACCCTCTTTTGGTCCAGTTATCTTTCTCCTTCTATGTAGCATTTCAAACACTCCACTCACAGTAGTAGCCTTCATCAGGAAACTCAGAAATCTAAACCAATGACTTTGGGGTCAGGCTGCTCATCAGAATCGCTTGGGAGATAGTGTAACAATACGATTCCTCGGCCCTGTTCCCGGAAATTATGATGCTTTCGGTACAAAGTGGGCCCAGAAATGTGTGTTTTAGAATGCTCCCTGGGGCTGGGCGCAGTGGCTCATGCACGTTATCCCAACACTTTGGGAGGCCAAAGAGGGCAGATCGTTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACATAGAGAGACCCTGTCTTTATTAAAAAATAATAAAATAAGGCCGAGTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGACGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTCGCTAACACAGTGAAACCCCGTCTCCGCTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTAAAACTCCATCTCAAAAAAAATAAAAAATAATAAAATAATAAAATAAAGTGCTCCCTGAGAGATCATGTGTTTAGACAGGAGAAAGAACTACCAGCTG
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TATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCTTCCAAAGCTTTCCCTTATGACTCCAGTTTTACCTTCACTCTCTCACTCGGTAGGAATGCAAGGTGTGACCCTTGTGATCCTTCCCCAGCCATCAGCTAGCTTTGGACCTAGAGTTATGTGTACGTCAGCTCCTCTTAAAGACAGCAGTGAAAATCATAAAGGCTTTTCCCTAAGTTTTCACAACACTTCCTTAGGAAGAAGTTTTGTACTTTGAATACATGGAAGCTGTCCTTTCACAGCAGACAATGGCTTCATTATACAAGAAATGTGGACTTAGGTTCTCCCTATTTCTTCAACCTGCTTCAGCAGAGCCATTGTCTGCTGTAAATCTTCAAAAACAATAACTATGTCTTGATTTTAAGTTTTTTATTGCAAGAAGAGGGAGTGGTCCTTCAATGTATTTTGTCATTTGTTTTTCTTGGTCAGAGATGTGACAATGGGGCCTGCCCCCTCCCGCCTCCCAGCCGACCCTGCCCCTAGGGCTCCTACCTCTTTCACCTCATTTTTGAAAACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTTGGGCTACAAATGCAGTTGTAGCCCTTTAATTTCTCATTTAATTCCTCAAGCACCCACCTGGCCATCTTAGCAAGAAGCCCAGCATCTTGCTCTTACTGCAGGTAATTCCCCATCTTCCCCAAACTCTCAGGGGGCTTACTTAGTCCTCAGGGCCAGTGCTGCTTCCAGACCTCTGGGAGGAAGGCTGCTGGGGTCCTGGATCAGTCCACCAGAGGGCTCTGGTTTTGAGCTGCTGCTCTTTCTGCTCCTGCTATGCTGCGTCTCCATGTTCTCCAGCTGTTTCTATCCACTGTGCACAGGTGCCCTTGCTAGTCCACATCCCACACAGATCAGAGCGATGCAAGACTGCATCACTTGAGGCTAGGCGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGAATGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGACACTCCATGTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGCTGTGGTAGTGTGTACCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCGGGAAGCAGAGTTTGCTGTGAGCCGAGATCATGCCACTGCACACCAGCCTGGGTGACAGGGTGAGACTCTATCTCAAAAGTCTCAAAAAAAAAATTGCATCACTTGCTCTTGCTCTTGCTCTGCTGTTGGTCCTCACTTGCTCTGCCATTGGTCCCAATGCAGCATGCTCACAGGCTGGTGGTGTCTCTGTGTTCTTTTGGTCAATTATCATAAGTGTTTTCACCTGTGTCTGATACAGACCAGTAATTTAAGGCATTGCCTCTGACGCTGCTGAAGACGTAACCTGCTCTCTGTAGGTTGCGAGATGACATGACTGTCTGTGTTGTGGACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCTAAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTCTACACAAGTAAAAGTGATGTGGTATGTACACAGCTTTGATTCAGGGGTCCCACAGCACAAAGAGGAGGGCATATTGAAAGAAATGACCTCAGCTGGTATGGCAAGACATTTTACTCTTTGATAAACTGAGGGTTGGCAGCTTGCTCAGATCTCTTTTATATCTTACCATCAGATACTTTAATTCAAGTGGAACAGTAGATTCTGATGAAGTGTCCTGACATTCAGAAGATGTGTGCTTTGCAAAAGCCCTTAATTTCTTCCCATTTTTCCTTGCCGTCAAAGGATGACTCATTGCCCACAACTAGGATATTTCATAGTCACATTAAATTGAATGAGTTCATCCACTGGCTCTTGGAACCTAGATGCTATATGAAAGGTGCTGTGTAATTACGCCCTTGACCCGAGATAAGGAAAAAAAAGCACCTCACAGCAACAGTGGAGGAGAGCACTAAGCAGATGTGTGACGAGGCTGTTTCTGCCTTTGCCAGATTTCCCAGAACAGCTTTTGTAGAAGTGGGGAACTGTGACACTCCAACCCCACGTTATTGCCGCGTTGGGAGAGCAGTGCGTCTCACACATAATTGCCAGCTTTGTGCATGATCATCAGTGTTTAAGGAAATGACCTTTCCCAGTGAAAAAGTCCATTCAGGCTTTGTGGAAAGGCTTGCATCCTAACTTGTTGTTGCTTTGTTCCCAGTGGGCATTTGGCGTGACCATGTGGGAAATAGCTACGCGGGGAATGACTCCCTATCCTGGGGTCCAGAACCATGAGATGTATGACTATCTTCTCCATGGCCACAGGTTGAAGCAGCCCGAAGACTGCCTGGATGAACTGTGAGTGGGCTTCTCTGTCTCCCTTCCATACTCTGCATGGGGCAGCCACCTGGCTCTGCACTGACCTCGGAAACACAGCCATGGGAGGGGAAAGGGACTGCTGTTAGCCAGGTGGGCATGTGCAGAGGGGTGGAACCCACAGACACCCCAGCCCAGGAGCCATTCCTGATGTGGGAGATAGTGTGTGGTATCTCCAGTGAGCCCACTGAGGCTCACTCATCCAAAGGGCCTCAGTCTCGAACGACAGGCACGGTCAAGACAAGGCAATGGCACCTGTCCTAAAATTCCTTACACACCTCTAGGAAATATATCCACAGATAATAGCTTCGCCTTGTAGTGCATGAGGTCCTTGAATGATTCCTCACCCTCTTTTGGTCCAGTTATCTTTCTCCTTCTATGTAGCATTTCAAACACTCCACTCACAGTAGTAGCCTTCATCAGGAAACTCAGAAATCTAAACCAATGACTTTGGGGTCAGGCTGCTCATCAGAATCGCTTGGGAGATAGTGTAACAATACGATTCCTCGGCCCTGTTCCCGGAAATTATGATGCTTTCGGTACAAAGTGGGCCCAGAAATGTGTGTTTTAGAATGCTCCCTGGGGCTGGGCGCAGTGGCTCATGCACGTTATCCCAACACTTTGGGAGGCCAAAGAGGGCAGATCGTTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACATAGAGAGACCCTGTCTTTATTAAAAAATAATAAAATAAGGCCGAGTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGACGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTCGCTAACACAGTGAAACCCCGTCTCCGCTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTAAAACTCCATCTCAAAAAAAATAAAAAATAATAAAATAATAAAATAAAGTGCTCCCTGAGAGATCATGTGTTTAGACAGGAGAAAGAACTACCAGCTG
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Task1_train_3965
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The gene MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Retinitis pigmentosa
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GATAAATTATTTAAATACTTTCTCCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCT
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GATAAATTATTTAAATACTTTCTCCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTACTGGAGAACCGATCCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCT
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Task1_train_3966
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Here is a mutation in MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Retinitis pigmentosa 38
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CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCTGTGCCAGGCATGGCACTCATTTA
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CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACTGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCTGTGCCAGGCATGGCACTCATTTA
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Task1_train_3967
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Located on Chromosome 2, this mutation impacts MERTK (MER proto-oncogene, tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Retinal dystrophy
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CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCTGTGCCAGGCATGGCACTCATTTA
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CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCTGGAAAGTGGACAGATGAAAAGATATTATTATACATCTACGTGAATGAGATCTGCATGTTGTGTGTGAAGTAACATGTTAGTAGAATTAGCCAAAAGTTCTATAGGCTGTAACTAAATGTCAATATGGAAATTGCATATTTCTGTTCGTAAGATGCTAGTAATTTATTGCATGGGTCAGATGATTTAAATTTGGGTCATTTTTTTGTCCAATGACGTATGAATTATCAGTTTCTCAAAACAGAAAAGCATCAAAATGAAATGATGCCTAGGCATGCTGGTGTGTACCTGTAATTCCAGCTACTCTGGAGGCTGAGGCAGAAGATCACTTGAGCCCAGGAGTTCAGGGGTTCTCCACCAGCCTGGGCAAAATAGCAAGACTTCGTCTTATTAAAAAAATAAATACATCTATTTTTAAAATTTTATATATATATATACACACACACACACACACATTTTTATATATATACACATTTTCAGGCCAGGCATATTAATTGGCATGCATATATATATATGCCATATATGTGTATATATATGCCATATATGTGTGTGTATATGTGTGTGTGTGTGTATATATATACACACACATATGGCATATATATACACACATGCCAATTAATATGCCTGGCCCTGAAATGTCAGGTCTATCAATTATAAGAAAAAAAACATTTTTAATGAAATGATGGTATAACTCACTCTTCATCTCAGCCTATTGATTCCTAATTGTCATCTGTCTTACTGTGCTCCATTAAATGTCCCTCCATTGGAATTCTTAACTATATTAGACACTGGGATGAAAAAACCACCCAGAAGAGAGTTGCCCTCTATAAAACAAAGTGGAAGGAGTTGTGAGGAGCACTTGGACGCAGGAGTTGTCCAATCTGAATCTGAATCCCTGGCTACCCACATGGCCATGGCATGTTCTGTAATGTCCCTGAGCCCACTGTCATCTTCATTACAAAGTGACAATGACAGGGCTGTTGAGAAGACTAGATGGAGTGATACGCAGCACACAACTACCCCCTGCCCTCACCCCTGCTCCTGATCTTCTTAGCCCTAGCCCCAGGGCCCCAACTAACTCAGCTGTCCTGGTAACAACTCAGTTTGATGGCATAGGACAGAGGTCAGCAAACTTTTCCTATAAAGTGCCAAATAGCAAATATTTTTGGCTTTGCAGGCCTTTTAGCACCTGCTCAACTCTGCCATTGTGACATAAGAAGTCATAGATAACGTGTAAACAAATAAGGATAGCTGTGTTCCAATAAAACTTTATTTACAAAGTAGACAGTGGGCTGGATTTGGCTCATGGGCCATAGTTTGCCCGCCGCCATATAAAGAAAGAGACCTAAATACTCCTTATCTGCAAAGTTAGATATAACTGCCACATATGTGCTCTTCCTAGAAACAGAATCACTTTTTTGTCAAATACCATGGAACATTTACAAAAGTTGTATAAATATTAGGCCACCAAAAAAGTCTCAATAATTTTTATAAAAAGTAGAATGAATGCTGATTAAAATGTGATAAAGATTCTGTAAAAACAAAGGCATGGATTGCACAAAGAGATGGGTGCCATGCTGGGAGACAATCCACTTCTTTTTAACTTTCAGGTATGAAATAATGTACTCTTGCTGGAGAACCGATCCCTTAGACTGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGTTTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGCTCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGACTCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCATGACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGATCTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGAGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCATTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGAGGAGAGGTGCGGGGAGACATTCCAAAAATCAAGCCAATTCTTCTGCTGTAGGAGAATCCAATTGTACCTGATGTTTTTGGTATTTGTCTTCCTTACCAAGTGAACTCCATGGCCCCAAAGCACCAGATGAATGTTGTTAAGTAAGCTGTCATTAAAAATACATAATATATATTTATTTAAAGAGAAAAAATATGTGTATATCATGGAAAAAGACAAGGATATTTTAATAAAACATTACTTATTTCATTTCACTTATCTTGCATATCTTAAAATTAAGCTTCAGCTGCTCCTTGATATTAACATTTGTACAGAGTTGAAGTTGTTTTTTCAAGTTCTTTTCTTTTTCATGACTATTAAATGTAAAAATATTTGTAAAATGAAATGCCATATTTGACTTGGCTTCTGGTCTTGATGTATTTGATAAGAATGATTCATTCAATGTTTAAAGTTGTATAACTGATTAATTTTCTGATATGGCTTCCTAATAAAATATGAATAAGGAAGGATATGTTGAACTTACTTGAGACTTGAAAGACAGTGGTCGGCAGCGGCCTTGTGGCCTTTGCAAAGGAATTCCCTTAATGCCTGGTCCTTGGGGCAATTGCTCTGACCATTCTTGGCATTGCTTTATAGAGATATGGAAAAACCACACCAGGGTCTGTAGATAAGGAATAAAGAATATTGAAGGATTGAAAAATACTGTGTGAATGGAAAGATTTAAAATCAGCTGAAGAAGAGAATCTGGCAGGTGAAGCACTTTTCTGTTTGGGAGGGGTAGCTCATGGGAGGTAGGCATGGGCAGTGGGGCAGGGCATAGCTGAGCTCACGTTCTGCCTCTGCCACTTCGTAATAGCTATCATTTGTAGAGTACTTGTTTCAGGAACTTTATGTGAACCATCTTATTTAATCTGTATGTCATTATAACATGGTACAAATGCCATCATCATGTATGAGCCAAGAAATCCAGGCTTAGAGAGACTGAGTAACCTGCTTGTAGCCCACATCTAAACAGTGGGGGAGCCAGAATTTAGAACATCTGATTCTGGCTAGTTCTATGCCTGTGATTTGGGGGTTGTATTAGTCCATTCTTGTATTGCTATAAAGAAATACTTGGGACTGTGTAATTTATAAAGTAGTTTAATTGGCTCACAATTCTGCAGGTTATATAGGAGGCACAGTGCTGGCATCTGCTCAGCTTCTGGGGAGGCCTCAGGAAGCTTGCCATCATGGCAGAAGGCAAAAGGGGAGCAGATGTCTCACATGCAGGAGCAGGAGCAAGAGGGAGAGGGGAGGTACTCCACACTTTTCAACGACCAGATCTCACAAGAACTCACTCGGTATCACGAGAACAGCACCAAGGGGCAGATACCAAATCATTCATGAGAAATCCACCCCCATGATCCAATCACCTCCCTCCAGACCCCACCTTCAACGCTGGAGATTACAACTGAACAAGAAGTTTGGGTGGGGACACAGATCAAAACCATATTAGAAATCTACTCCAGAGCTTCTCAACATTTTTACTTTATTTAATAAACATATATCTCTTACTCTGTGCCAGGCATGGCACTCATTTA
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Task1_train_3968
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Here’s a variant in POLR1B (RNA polymerase I subunit B) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Treacher Collins syndrome 4
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ATGTTCAAGCAATTCTCCTGCCTCGGTCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGGTAATTTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGCCCCGGCTGGTCTCGAACTCCTGACCTCAAATGAGCTACCTGCCTCATTAGTCTCAGATTTTATCTTTTTTATAGAGAATTTATTTTCATTCTCTTTTTTTTGGTTAGCATTGTGGAGCATCGGAGGATGAGGACACTTAAGATCTGCTCTCTTAGTAAATTTCAAGCATGCAATATAGTATTCTTAACTATAGTCACATGCTGTACATGAGATCTCCAGAAACTTAATTTTGTTGCATAACTGAAGCTTTATACTCTTTGACCAACATCTCCCCGTGTCCCCCTCCACCAAACATTCTCTCATTTTTAATGATAATGCATCTAGCTGTGAATCCCCATGAGTTCTGACACATGGGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTCAGGTTTCTGTAATTTAGGTTTTTATTTCTCCTTTCACCCAGGAGTTTGTTGGAGTTTTTTTGTTTTGTTTTTGAGACAGGGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGATTAGCTGGGACTACAGGCACGTACCACCACACTCAGGTAATTTTTTAATTTTTGTAGAGACGGGGTTTCATCATGTTGCCCAGGCTGGTCTTGAACCTCTGGGCTCAAGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGTATAAGCCACCCCCGGCCCACCCATGAGTTTTTGGTTTATTAAATTTACAAATAAAACCAGTAATCTACTGTATTTTAGATCACAGAGGACAGAATTTCCTTTAGTGTATCGACACGTGCATTCATGGTGTGCTTTATCCTTAGCCTCAGTAGTTAGTGATTTGCCTACTAGCTGGGGTGAGCACCCAAGGAAGTAGGGCTTTTACCATGGCTGAGTGTGGATGAGTGGTATTCCATGGGGCATAAGACTGGCAGCGACAGCCATGGCCTTGGGACAGGTTTGTTAAACTCTGTTTTTGTTAAAAACAGGTGTTGAGAGAGAAAAGAATTCCTCCCTGGATGGAAGTGGTCCTTATACCCATGACAGGAAAACCAAGTCTGTACCCAGGATTGTTCCTTTTTACCACTCCTTGTAGACTGGTACGGCCTGTGCAGAACTTAGCATTGGGCAAAGAAGAGCTAATTGGAACTATGGAACAGGTAAATACATATGTGTGATGGATGAGTGTATGTGCTTGTTTGTATAGTATACAACTTTCAGAGACTTAACTCTTCCTTTTTTAAAAGGGTTGTTAATGTTACAACAACAGTTGGACATTTGAAAGAAAGTCAGACTTTCCACCTCCTCTATGATCAGCACAGAGCAATTTCCATGTCTGATCTCACTCCACAGAACCTGAGAGAGGGCTGGTGGTCACATTACCTGCCTCCCATCTTATCTAGCTCCCAGAACTCCTTTGTACCTGGCTCTGCCTCAGCCGTGAAGTGAAAACATTCCATTAGATTCACACTCAGTCTTTGCCTACATATTTACAGTTGCAAAATTATAGGCTTTGTGCTACTTAAAAATTTTTCTTCCTATTCCCCTTCACAATTGGTCTGGGGTAGTTTTAGAGTGAGATACGTAAAGCAAGTGGTATTTCTAACTGGTCGCTTCCCTGTGCTTCCCAGTTGATCCCTTCAGCACTCATGATGCTGGGTGGGGATGGTTTTCTCTTGAGTCTTTGAGTACTGAACTCTGAGAAATGGTAAGAGTAAATGTGTAACCAGTTGCAGTTATTTTGTGCCTTGGACATCTGCTCTTCCAGATCTTCATGAATGTCGCTATCTTTGAGGATGAAGTTTTTGCTGGAGTTACCACACACCAGGAACTCTTTCCACACAGCCTGCTGAGTGTGATTGCCAACTTCATCCCTTTCTCTGATCACAACCAGAGTCCACGGAACATGTACCAATGCCAGATGGGTAAGGAAGAGGGATGATGTTACAGTCACAATCAGGAAAGTAAACTTGATACTAGCACACTCTTTTATTGTCCTTATTTACATATGCTGACCATTTGTTCCAAAAATACAGTTTATGGCAAGTTTTTCTTTTTTCTGTGCCACAAGCAACCAGCCCAGGATCACTCATTGTATTTAGTTGGCATGTCTATTTAGTTTCCTGTAATTTATGACAGATCTTTAAACATTCTTTGTCTTTGACATTGACATTTTTGAAGAAAAAGGTATAGAATGTCCATAGATTTGGGTGTGCCTGAGGTCTTATTATTTGATTTTTTGAAGAATACAAGCAATTATAGTCACCCGCATATTTATCACTTCCAGTCCTCTTCATTCCTGCTGCAAGATTCAAGTTTTCATTGTATACAATTTTCCTTCAGCCTGATAATCTTCCTTTAGCATTTTTTTATAGTGCAGGTTGCTGGCCACAAATTCTCTTTGTTTTCATTTATCTGAAAATGTCTTTATTTTGCTTCACTTGAAGGAATCTTTCACTGGATATACAATTCTGAGTTGACAGTTATTTTTCTTCCAACACTTAAAAGTTGTTGTTACACTGTCTCTTCTTAGTCTCTGTCATTTCTAGTTAGAAGGCAGCAGTCTTCTGAATATAGTGTGTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGGTCTACAGGGACTCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCACTTTGGCCTCCCAAAGTGCTGTATTACAGGCGTGAGCCACTGCGCCCGGCCTCAAATTTTGTTTTTTTTCAGTTTAATTAAATTGCTAAACTCTTCTGTCATTATTTTTAAAAACATTGCTCCTATCCTTTTCTCTCTTTCCTCCTCTTCTATCAGTTATTCATATATTTAAACCTTTTGATATTGTTCCATAAGACATTGAGTTTCTGTTCTCTTTTTTCTTTATTTTCTTCAGATTGGATCTTTTTTTTTTTTTCCCGAGATGGAGTCTCACTTTGTTGCCCAGACTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCATGTTCAATAAATTCTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTGTTTTAGTAGAGATACGGTTTCACCATGTTGGCCTGGCTGGTCTCAAACTCCTGACCTGAAGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGGTTACAGGTGTGAGCCACTGCACCTGGCCCAGATTGGATTATTTTTATTGACCTATTATCACAGTCACTTTTTATTCTGTCTTCTACTGAATTTTTGCTTACAGTCATGTGCCCTTAACGACAGGGATACCTTCGAAGAAGTGAGTCATATGTGATTTTGTCGTAGTGTGAACATCATAGAGTGAACTTACACAAACCTAGATGGCAGAGACTACTACACACCTAGTATATGGTATAGCCTGTTGCTCCTAGGCTACAAACCTGGGTGGCATGTAACTGTACTGTGTACTGTCTACAGTTGTAAGACAATGGCAAGGATTTGTGTAGCTAAACATAGAAAAGGTACAGTAAAAATATGGGATCACCATAGTATATATGCCATCCTGCATTGACTAAAACATTGTTATGCAGTGCATGCCTGTATTTTTCAAGTCCAGCACTTCTACTTGTTTCTTTTTTTTTTCTTTTTTTTTTTTTTGAGACAGGGTATCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCAATTTTCCTGCCTCTACCTCCTGAGTAGCTGAGATTACAG
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ATGTTCAAGCAATTCTCCTGCCTCGGTCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGGTAATTTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGCCCCGGCTGGTCTCGAACTCCTGACCTCAAATGAGCTACCTGCCTCATTAGTCTCAGATTTTATCTTTTTTATAGAGAATTTATTTTCATTCTCTTTTTTTTGGTTAGCATTGTGGAGCATCGGAGGATGAGGACACTTAAGATCTGCTCTCTTAGTAAATTTCAAGCATGCAATATAGTATTCTTAACTATAGTCACATGCTGTACATGAGATCTCCAGAAACTTAATTTTGTTGCATAACTGAAGCTTTATACTCTTTGACCAACATCTCCCCGTGTCCCCCTCCACCAAACATTCTCTCATTTTTAATGATAATGCATCTAGCTGTGAATCCCCATGAGTTCTGACACATGGGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTCAGGTTTCTGTAATTTAGGTTTTTATTTCTCCTTTCACCCAGGAGTTTGTTGGAGTTTTTTTGTTTTGTTTTTGAGACAGGGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGATTAGCTGGGACTACAGGCACGTACCACCACACTCAGGTAATTTTTTAATTTTTGTAGAGACGGGGTTTCATCATGTTGCCCAGGCTGGTCTTGAACCTCTGGGCTCAAGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGTATAAGCCACCCCCGGCCCACCCATGAGTTTTTGGTTTATTAAATTTACAAATAAAACCAGTAATCTACTGTATTTTAGATCACAGAGGACAGAATTTCCTTTAGTGTATCGACACGTGCATTCATGGTGTGCTTTATCCTTAGCCTCAGTAGTTAGTGATTTGCCTACTAGCTGGGGTGAGCACCCAAGGAAGTAGGGCTTTTACCATGGCTGAGTGTGGATGAGTGGTATTCCATGGGGCATAAGACTGGCAGCGACAGCCATGGCCTTGGGACAGGTTTGTTAAACTCTGTTTTTGTTAAAAACAGGTGTTGAGAGAGAAAAGAATTCCTCCCTGGATGGAAGTGGTCCTTATACCCATGACAGGAAAACCAAGTCTGTACCCAGGATTGTTCCTTTTTACCACTCCTTGTAGACTGGTACGGCCTGTGCAGAACTTAGCATTGGGCAAAGAAGAGCTAATTGGAACTATGGAACAGGTAAATACATATGTGTGATGGATGAGTGTATGTGCTTGTTTGTATAGTATACAACTTTCAGAGACTTAACTCTTCCTTTTTTAAAAGGGTTGTTAATGTTACAACAACAGTTGGACATTTGAAAGAAAGTCAGACTTTCCACCTCCTCTATGATCAGCACAGAGCAATTTCCATGTCTGATCTCACTCCACAGAACCTGAGAGAGGGCTGGTGGTCACATTACCTGCCTCCCATCTTATCTAGCTCCCAGAACTCCTTTGTACCTGGCTCTGCCTCAGCCGTGAAGTGAAAACATTCCATTAGATTCACACTCAGTCTTTGCCTACATATTTACAGTTGCAAAATTATAGGCTTTGTGCTACTTAAAAATTTTTCTTCCTATTCCCCTTCACAATTGGTCTGGGGTAGTTTTAGAGTGAGATACGTAAAGCAAGTGGTATTTCTAACTGGTCGCTTCCCTGTGCTTCCCAGTTGATCCCTTCAGCACTCATGATGCTGGGTGGGGATGGTTTTCTCTTGAGTCTTTGAGTACTGAACTCTGAGAAATGGTAAGAGTAAATGTGTAACCAGTTGCAGTTATTTTGTGCCTTGGACATCTGCTCTTCCAGATCTTCATGAATGTCGCTATCTTTGAGGATGAAGTTTTTGCTGGAGTTACCACACACCAGGAACTCTTTCCACACAGCCTGCTGAGTGTGATTGCCAACTTCATCCCTTTCTCTGATCACAACCAGAGACCACGGAACATGTACCAATGCCAGATGGGTAAGGAAGAGGGATGATGTTACAGTCACAATCAGGAAAGTAAACTTGATACTAGCACACTCTTTTATTGTCCTTATTTACATATGCTGACCATTTGTTCCAAAAATACAGTTTATGGCAAGTTTTTCTTTTTTCTGTGCCACAAGCAACCAGCCCAGGATCACTCATTGTATTTAGTTGGCATGTCTATTTAGTTTCCTGTAATTTATGACAGATCTTTAAACATTCTTTGTCTTTGACATTGACATTTTTGAAGAAAAAGGTATAGAATGTCCATAGATTTGGGTGTGCCTGAGGTCTTATTATTTGATTTTTTGAAGAATACAAGCAATTATAGTCACCCGCATATTTATCACTTCCAGTCCTCTTCATTCCTGCTGCAAGATTCAAGTTTTCATTGTATACAATTTTCCTTCAGCCTGATAATCTTCCTTTAGCATTTTTTTATAGTGCAGGTTGCTGGCCACAAATTCTCTTTGTTTTCATTTATCTGAAAATGTCTTTATTTTGCTTCACTTGAAGGAATCTTTCACTGGATATACAATTCTGAGTTGACAGTTATTTTTCTTCCAACACTTAAAAGTTGTTGTTACACTGTCTCTTCTTAGTCTCTGTCATTTCTAGTTAGAAGGCAGCAGTCTTCTGAATATAGTGTGTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGGTCTACAGGGACTCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCACTTTGGCCTCCCAAAGTGCTGTATTACAGGCGTGAGCCACTGCGCCCGGCCTCAAATTTTGTTTTTTTTCAGTTTAATTAAATTGCTAAACTCTTCTGTCATTATTTTTAAAAACATTGCTCCTATCCTTTTCTCTCTTTCCTCCTCTTCTATCAGTTATTCATATATTTAAACCTTTTGATATTGTTCCATAAGACATTGAGTTTCTGTTCTCTTTTTTCTTTATTTTCTTCAGATTGGATCTTTTTTTTTTTTTCCCGAGATGGAGTCTCACTTTGTTGCCCAGACTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCATGTTCAATAAATTCTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTGTTTTAGTAGAGATACGGTTTCACCATGTTGGCCTGGCTGGTCTCAAACTCCTGACCTGAAGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGGTTACAGGTGTGAGCCACTGCACCTGGCCCAGATTGGATTATTTTTATTGACCTATTATCACAGTCACTTTTTATTCTGTCTTCTACTGAATTTTTGCTTACAGTCATGTGCCCTTAACGACAGGGATACCTTCGAAGAAGTGAGTCATATGTGATTTTGTCGTAGTGTGAACATCATAGAGTGAACTTACACAAACCTAGATGGCAGAGACTACTACACACCTAGTATATGGTATAGCCTGTTGCTCCTAGGCTACAAACCTGGGTGGCATGTAACTGTACTGTGTACTGTCTACAGTTGTAAGACAATGGCAAGGATTTGTGTAGCTAAACATAGAAAAGGTACAGTAAAAATATGGGATCACCATAGTATATATGCCATCCTGCATTGACTAAAACATTGTTATGCAGTGCATGCCTGTATTTTTCAAGTCCAGCACTTCTACTTGTTTCTTTTTTTTTTCTTTTTTTTTTTTTTGAGACAGGGTATCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCAATTTTCCTGCCTCTACCTCCTGAGTAGCTGAGATTACAG
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Task1_train_3969
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Here’s a variant in POLR1B (RNA polymerase I subunit B) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Treacher Collins syndrome 4
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TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTACGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
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TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTAAGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
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Task1_train_3970
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Gene POLR1B (RNA polymerase I subunit B) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; POLR1B-related disorder
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TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTACGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
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TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTATGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
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Task1_train_3971
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Gene POLR1B (RNA polymerase I subunit B) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Treacher Collins syndrome 4
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TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTACGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
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TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCATGGAAGTGTCTACAAGTCTGAGTTCATAGACCTCTCTGAAAAAATTAAACAAGGAGATAGTAGCCTGGTGTTTGGCATCAAACCTGGTGACCCACGCGTTCTGCAGAAGTTAGATGACGATGGATTGCCGTTTATAGGAGCAAAACTGCAGTACGGAGATCCGTATTACAGCTACCTCAACCTCAACACCGGGGAAAGTTTTGTGATGTACTATAAGTAAGTTTGGGTATCCAAGCTGTTTTGTTTTTGTTTTTGTTTTTGTTTTGAGACAGGGTCTCAGTGTGTCAGCCGGGCTGGAGTGCAGTGGAGTGATCTCAGCTCACTACAACCACCACCTCCCGGGCTCAAGCAATCCTCTCGCCTCAGCCTTTGAGTAGCTGGGACTCCAGGCATGGACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTATAGACGGTTTCACCATGTTGCCCAGGTAGGTCTCGAACTCCTGGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTAGGATTACAGGCCTGAGCCACCATCCCTGGCCTATTTGTGCTTTTTTTAAAAACTGTATTATCCAAACTTTGTCATCTTTCTCACATACAATGTTAGCAATGTTTCCTAGCCAAAATGTTGAGCTCATACCTCTTATTAGAAATGTCTTATTTTAGCTTATTTTACAATATAATTTATTTCAATAGGCTTTCATAATAATTTTTCAGTTGCTTTTGTTGCTAGTTTTCTTTCAGATGAACATAATTCTGTAGTGAATATCACCAATAGCTCTATTCATACCATCTCTGTTTGTATTGGAGAATAAAGGTAAGAATGAGTTTTGCAGGCCAGGCACAGTAGTTCACACCTGCAATCCCAACACTTTGGGAGACCAAAACAGGAGGATTCCTTAAGCACAGGAGTTCATGATCAGTCTGGGCAATGTAGTGGGGCCCTATCTCTACAAAAAAAATTTAAAGACTAGCCAGGCCTAGTGGCATATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGAAAGTCAAGGCTGCAGTGAGCTGTAATTGCACCACCGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTATCATAAAAAAAAAAAAAAAAAAAAAAGTTTTACAAATATCCTTTATGAAGCACTAATTATATCAATGAAACTTATCTCCATAAGTTAAAACAAATAGGTTGACCTTATATGGTTTACTTTTTCCTAGGAGTAAAGAAAATTGTGTTGTGGATAACATCAAAGTGTGCAGTAATGACACTGGGAGTGGAAAATTCAAGTGTGTTTGCATCACTATGAGAGTGCCTCGGAACCCAACTATCGGAGATAAATTTGCCAGTCGCCATGGGCAGAAGGGCATTTTAAGCAGATTGTGGCCGGCTGAGGACATGCCTTTTACTGAGAGTGGGATGGTCCCAGACATTCTGTTCAATCCCCATGGTTTTCCATCCCGCATGACCATTGGGATGTTAATTGAGAGTATGGCCGGGAAGTCTGCAGCTTTGCATGGTCTCTGCCATGATGCTACACCCTTCATCTTCTCAGAGGAGAACTCGGCCTTAGAATACTTTGGTGAGATGTTAAAGGCTGCTGGCTACAATTTCTATGGCACCGAGAGGTTATATAGTGGCATCAGTGGGCTAGAACTGGAAGCAGACATCTTCATAGGAGTGGTTTATTATCAGCGCTTATGCCATATGGTCTCAGACAAATTTCAAGTAAGGACAACTGGAGCCCGAGACAGAGTCACCAACCAGCCTATTGGGGGAAGAAATGTCCAGGGTGGAATCCGTTTTGGGGAGATGGAACGGGATGCGCTTTTAGCTCATGGTACATCTTTTCTCCTTCATGACCGCCTCTTCAACTGCTCAGATCGGTCGGTAGCCCATGTGTGTGTGAAGTGTGGCAGTTTACTCTCTCCACTGTTGGAGAAGCCACCCCCTTCTTGGTCTGCCATGCGCAACAGAAAATACAACTGTACTCTGTGTAGTCGCAGTGACACTATCGATACTGTTTCTGTGCCTTATGTTTTTCGGTATTTTGTAGCTGAACTGGCAGCTATGAACATCAAAGTGAAACTGGATGTTGTTTAACTTGATGTTGACCTTTTGGATTAAGAGGACTATCAGATTAAAGCAAAATGTAATTTTAATTCAATGAAGATATCATTACCAGGTTACTCTTGAGATTTTTCAACGGTGTTAGAACTCTCAACCAAGACCTGAAAACCAAGTATGCAAGGTTTCTGAATCTCTCTGGTAGATTAACTATTGACAATGATTTTCTGTTATCTTTGTTCAAAAAGTTCATGTCTTCTCAAAATATGAAATATTGATAAATGGAAGAGCATACGGTGACAAGTCTCCTTTCCAACCCCAGGTTCCCTACACCCTGCTCTCAGCAGGCAGTGAGTGTCACACACCTGTTAATCCATCTTGAGCAGGACAGTACTATACAAATAGAATGCAAGCTGTAATGTAATTTTATATTTTCTTATAGCCACGTTGAAGTAAAAACAAACAGGTACAGTGTTTTTTACCAGCTTTATAGAAGTACAGTTGTTACATATTTAATGAATACAATTTGATGGGTCTGACTATATGCACACACCTTTGATACCATCACCACAATCAGGGTAATAAACATACCTGTCATCTCCACAAGTTTCCTCCTGCCCCTTTGTTTTTTGCTTTTTGGTTGCTGTTGAGTTTTTGTTTTGTCTTCTGTGGTAAGAACACTTAACTCAAGACCTACCCTCTTAACAAATCTTTAAGTGCACGATATAGTATTGTTAATTCCAGGCACCATGTTGTACAACAGATCTTTAGACCTTACTTGTCTTGCATAACTGAAGCTTTATACCTGTTGAACAACTCTCCATTTCCCTGGCCCCTAGCAACCACCCTTCTACCCTGTTTCTATGAGTTTGACTATTACAGATATCTCATATAGTGGGATCATGCAATATTTGTCCTGTGACTGGCTTATTTCACTTAGCATAGTGAAATAAGATTCATCCATTTTGGAAGCCAGGCATGGTGCTGTGCATCTATAGTCCCTGCTATTTGAGAGGCTGAGGTGGGAGGATCATTTGAGTGCAGGAGTTCAAGGACAGCCTGGGTAATATAGGAAGACCCTGTCTTGAAGACCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCGAAAGTGCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTCCGGTGAGTATTTTATATTTAGTCTACACTTCCATACTTGGCTTTTTTCTGCTTTTATATTGATCTGCTTTCATAGCAGTGTGTAGAGTGCCACTTATGTTTTCTTTCTTGTGTACAGTATTTTATTGTATGGATTTACCATCCCCTGTGTATTTAAGTTGTTCCATTCTTTGGCCATTATAACTTTTTTCTGCAAATATTCTGGTGACTTATCTTTGGCCATTATAAACTGTTGATAATAGATCATCTTGTATATACTTCTGCAATTATAAGATGTTTTTTGATGATGAAAGCTTTCCTAAGGTAATTCTTTCCTGAGTTTGGTTCAGATGGTCTGTCACTAATTATAAGGCAGATAGGAACAGACAGAAAAATCTATCATTTCAAGATAGGCTTAGCAGGATGGGCGCAGTGGCTCACGCCACTAATCCCAACATTTTAGGAGGCCTAGGCAGGAGCAATCACTTGTGCCTGGGAGTTCTAGACTAGCCTGGGCGAGACTTCATCTCTACAA
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Task1_train_3972
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A mutation on Chromosome 2 affecting CKAP2L (cytoskeleton associated protein 2 like) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Filippi syndrome
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GAAGCTTTCTCTGCCGCTCTTCTGCAACACAGGCAAGCAAACAAACGACATAACTTTAGTTCAAGATTTTAACCAGTTCATTAATATTCTAAAAGATGACACTTTTCTCTAGTGATTTTGCCTTTGCAACATAATGTTATAAAATCCCTAGTCCTATAAATGTGCCTTCAAGCTAACATCAACATCAACAATATCATTTATATGCCAGGCCTACACTAAGTTCTTTAAACTTACTACTTTTTTTTTTTTTTTTGAGACAGGGTCTTCCTCTGTCACTGAGGTTGGAGGGCAGTGGCACAACCACGGCTCACTGTTGACTTGATCTCCCAGGTTCTAGCAATCCTCACACCTCAGTCTCCTGAGTAGCTGGGAATACAGGCGTGTACCACCATGCTGGATAATTTTAAAAAAATTTTTTGTAGAGACAGGATCTCACTATGTTGCCAGGGGTGGTCTCAAATTCCTGAGCTCAAGTGACCCTCCTGCTTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTAAGTCAAAGCACTCGGCCTAAATTTACATTATTGCTTTCAATCCACAAAACAATCCAATGAGTTTTTGCAATCTGAAATTCAGAGAGAGTAAATGTCATGCCCAAAGTTACCCAGCTAATATGTGGCAATTCCAGGACTTGAAAACAGGCTTTTCTAACCCTGGAGCTCACAGCCACTGTTCTCAGCTACAACAGTCTGTTTTGAAGAATTTCTGTTACTGGCCCACCTGAGCTGGTGAGCCAGGCCTGGTCTTACGTCTTTTGTTTTTTTACAGGGATGATGATTTTTACCCACAAACCCTTATATGGCTTCCTTTGTTGGTACTAAGGATAAAATACGCCCGGTCTGCTCACGGCAGACACCTATACTATGGTGACTTTCTACGCAAGCCATTTGTGAGGGGATGACAAGTCAATAATTTCTGCCTTCAAGAACTTTCAAACTAGTAGTGGAGATAAAATCAACACAGCAACAATTACAGTATAAGGTAAAATCTAAGGGCCATAAGAGACGAAAAGAAGTATGGGAGTTCAGAGGTAGGGCATAAATGAGGGGAGTAGGTGGCTAGAAAAGGTTAAAAGTAAATAATGATGTGAAGGAAGACAAAAAGACGACAGGGGTGCCAAACGACTCTTAACCTCATCTGAACGGAGTTGCCCTGTTTTGCTCTCTGATGCTCATGTATCTATCCTTAGAGACAGCTTGGCGGGCAATGTAGAGCGTAGGGGCTGACATAGGGGGTTGGAGTCCCACCTCCGTGACTTCTAGCAAATTAGCAAACTTTGCTGCTGCTAAGCCTATAAGGCGGACAGAAATGCCATCTTTAAAGCTTGTTATGTAAAGTGCCTAGGACCTCGTAGGCATCAACAGGAATAATGGATGAAACAAAACAACGGTGCGTATCTTGGAGAAAGTGGCATCTGAGCAGGAGTATTTTGAAAGGTAGGAAAGGGCTCCAAGCACATCTAAGAGATTAGGGAACGCAGAAGCCTTAGCCCTGGGTGCAGATTTAACCAATCAACTTCTAACCACCGCAGGCTGAGAGGTGTGGAGTGAGAGCCCCGCCAGAGGCAGGAGACCCGGGCTTCGGCCAGACCCCGCCTCCTGGCACAGAGGACCACGCCCGGCTCTGCCTGGAGCCAAATGTGGATCAAAACAGCGCGCAGCTTCCCACTGCTGGTGAAAACCCGAGCAAGGGGCCTCAGTTTCTTTATCCGGAACGTGGTGACAATGACATCTCTTTGCAAGGCTGCTGCAGGGCTTTCTGGAAATACGCCCGTGAGGTATCTGGGCCTGCGCACAGCCTCCCCCGCCCAGGACCCAGACGTCTACCTGGGGGTCCCGTCTGCGCTCCCGGGATGGAAAACGCCCAGGGGAAACTTAGGCAGGCGAGCGGACGGGCACCTCCCGCGGGACGAACTCACTCGGTGGCCTCCTACTTCCCCGGCCGTGTTCCAACGCCTGAGAATAACGGGAACAGCGGTCGTACTCACCGACAGCGGCAGCAGCGGTAGGCCCGGGCCCCACCATGACTCTTCAGTGACAGTTTTTCTTCAAACGCCGCGCCTGTAGCCAGGACCGGCGTGCCGCGCGTCCACGCGTCCTCATTGGCTCCTGCGGGTTTGAAACTCGCTAGTCGTCAGCACGGGAGGGCGGGACAACAGGCAATAGGCTCTTTGCGGTTGGCTCTGGCCTTGAGAACCCGACCTTGGGGCCCTTTGATTGGAAGAACGTGCAGCGCACCTCGGCATTGAGGGCGGCTTCCTCGGGGCGCGGCGCCGCCCGCCTCTGAGTGCGCCTGTGAGTGCGCCTCCGAGTGGGCGTGGGACCCTCCGTGGGGGCCTCAGCCGGGCTGGTGGTTGGGGGGCGGTTACGCTGAATCCAGCTGGGGTTGGCGCGCCGGGAGTCCCTGGGCGGAGAGACAGGGCGGTCCTCCCAGGATGCTGGGGCCGCTACCTGATTCTGTCCTTTCAAAGTCTCAGACTCACAGGAGCTGTGAAAAAATAATATTATAAAGAGGACATATGGGTCTTATGCATCTAAAGGCTCCTAGTTCTTAGTACTGCAGGGTGGCTCGTTTAATTGTGGTAAAATATGCATAACATCACATATACCATTTTAACCATTTTAAAGTGTTAAATTTTTCAAAAATGTGCAGTTTAGTGGTATTAAGTACCCTCACATTGTGGCACAGCCACCACTACTGTCCTTTCCAGAACTTTTTCATCTTCCCAAATGAAACCCTGTACCCGTCACTAACTCCGCACTCCTCCCTCCCCCAGCCCCAGGCAATCACCATTCTAGTTTCTGTCTCTATGGATTTGACAACTGTAGGTGCCATATAAGTAGAATCATGCAGTATTTGTTCTGTGACTGGCTTGTTTCACTTAGCATAAAGTATTCAAGGTTCATCCATGTGTAGCATGTGTCAGAATTTCCTTTCCTTTTAAGGGGGAATAGCATTTCGTTGTGTGGAGATGCCACATTTTGCTTCTTGGTCCATCCCTCTCCGGACACTTGAGTTGCTTCCACTTTTTGGCTATTGTGAATAATAATATGAACATGAATGCACAAATAACTCTTTGAGACTCTCCTTTTCATTCTTTTGGGTATATACCACGAAGTGGTATTGTTGGATCAAACGGCAATTCTATTTTTAATTTTTTGAGAAACTGCCTTACTCCTCTCACGGTGATCTCTTGTTCAAGGTATATTTTCGATTTCACCTGATCAGCTGACTATAAGGCCATAAGGCTAACGGAGAAACGCAGGCCTAGTTTCTCCTAGTTACTAGGAGATCGCAGGCCTCGTTGTCCTGAATCCCTAGACACACTTCATTCCCCTTGTTTTAATCCTAAATTTTTTTTCTTTTGAAGTTTGTCCTGTTTCATCTATTCTCCAGTTTCTTAAAGAGGTCTGGAAAATGCTTTTGGCTCCTTGTGTATGAAGGTTCCTCTTCCATGGATGCTGGAGAAGTCGTGTGTGGAGGGGCAGTCATATCTGGGCACCTGTTGGCCAGGTTCAGCTTACCAGTTGGGTACTCAGCAGGGCATGAAGCCACTGCAGCAGCCCTTCTCTTTAGCCGTAAATAGGGAGTTTGGAAGAGAGCCAGGGTTTCTGGATTTATGCATTTTGATATTTTCAATAGTGTATTAAATGTTTAAAATAGGAAAACTGATCATTATTTTTGTTAATGACTGAGAAAGGGACTCCTTCACCAACAGTTTCAGAAAAGTGAAGGCGGTTTTGTTTTGGTCTTTGTAGAATCTAGGTGGTTGAATGCATGTCAGTTGTAGAAGTCACCTTGCCTGATATCCCACGCAGTGCTGGAGTATTCCACAGACCCCATGTAGGTACTGCACCTTTGCAGGTATACTGCTGGTGTTGGTGAGCTGCCTTACCTGTCCTGTTATTGGAGACCCCTGCTTATTAGGAAACTTAAAATGAACTCAAATGAGCTTCCTTGCTTACTGGTCCTAGTCCTTTGGAGCAACATAGGCCAGTTCTGCCTCGTTTTTTTCCATCCTTTGGGTATTTGACGGTCTATTTTGTAGGACACAAAATGTGGGAAAATAG
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GAAGCTTTCTCTGCCGCTCTTCTGCAACACAGGCAAGCAAACAAACGACATAACTTTAGTTCAAGATTTTAACCAGTTCATTAATATTCTAAAAGATGACACTTTTCTCTAGTGATTTTGCCTTTGCAACATAATGTTATAAAATCCCTAGTCCTATAAATGTGCCTTCAAGCTAACATCAACATCAACAATATCATTTATATGCCAGGCCTACACTAAGTTCTTTAAACTTACTACTTTTTTTTTTTTTTTTGAGACAGGGTCTTCCTCTGTCACTGAGGTTGGAGGGCAGTGGCACAACCACGGCTCACTGTTGACTTGATCTCCCAGGTTCTAGCAATCCTCACACCTCAGTCTCCTGAGTAGCTGGGAATACAGGCGTGTACCACCATGCTGGATAATTTTAAAAAAATTTTTTGTAGAGACAGGATCTCACTATGTTGCCAGGGGTGGTCTCAAATTCCTGAGCTCAAGTGACCCTCCTGCTTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTAAGTCAAAGCACTCGGCCTAAATTTACATTATTGCTTTCAATCCACAAAACAATCCAATGAGTTTTTGCAATCTGAAATTCAGAGAGAGTAAATGTCATGCCCAAAGTTACCCAGCTAATATGTGGCAATTCCAGGACTTGAAAACAGGCTTTTCTAACCCTGGAGCTCACAGCCACTGTTCTCAGCTACAACAGTCTGTTTTGAAGAATTTCTGTTACTGGCCCACCTGAGCTGGTGAGCCAGGCCTGGTCTTACGTCTTTTGTTTTTTTACAGGGATGATGATTTTTACCCACAAACCCTTATATGGCTTCCTTTGTTGGTACTAAGGATAAAATACGCCCGGTCTGCTCACGGCAGACACCTATACTATGGTGACTTTCTACGCAAGCCATTTGTGAGGGGATGACAAGTCAATAATTTCTGCCTTCAAGAACTTTCAAACTAGTAGTGGAGATAAAATCAACACAGCAACAATTACAGTATAAGGTAAAATCTAAGGGCCATAAGAGACGAAAAGAAGTATGGGAGTTCAGAGGTAGGGCATAAATGAGGGGAGTAGGTGGCTAGAAAAGGTTAAAAGTAAATAATGATGTGAAGGAAGACAAAAAGACGACAGGGGTGCCAAACGACTCTTAACCTCATCTGAACGGAGTTGCCCTGTTTTGCTCTCTGATGCTCATGTATCTATCCTTAGAGACAGCTTGGCGGGCAATGTAGAGCGTAGGGGCTGACATAGGGGGTTGGAGTCCCACCTCCGTGACTTCTAGCAAATTAGCAAACTTTGCTGCTGCTAAGCCTATAAGGCGGACAGAAATGCCATCTTTAAAGCTTGTTATGTAAAGTGCCTAGGACCTCGTAGGCATCAACAGGAATAATGGATGAAACAAAACAACGGTGCGTATCTTGGAGAAAGTGGCATCTGAGCAGGAGTATTTTGAAAGGTAGGAAAGGGCTCCAAGCACATCTAAGAGATTAGGGAACGCAGAAGCCTTAGCCCTGGGTGCAGATTTAACCAATCAACTTCTAACCACCGCAGGCTGAGAGGTGTGGAGTGAGAGCCCCGCCAGAGGCAGGAGACCCGGGCTTCGGCCAGACCCCGCCTCCTGGCACAGAGGACCACGCCCGGCTCTGCCTGGAGCCAAATGTGGATCAAAACAGCGCGCAGCTTCCCACTGCTGGTGAAAACCCGAGCAAGGGGCCTCAGTTTCTTTATCCGGAACGTGGTGACAATGACATCTCTTTGCAAGGCTGCTGCAGGGCTTTCTGGAAATACGCCCGTGAGGTATCTGGGCCTGCGCACAGCCTCCCCCGCCCAGGACCCAGACGTCTACCTGGGGGTCCCGTCTGCGCTCCCGGGATGGAAAACGCCCAGGGGAAACTTAGGCAGGCGAGCGGACGGGCACCTCCCGCGGGACGAACTCACTCGGTGGCCTCCTACTTCCCCGGCCGTGTTCCAACGCCTGAGAATAACGGGAACAGCGGTCGTACTCACCGACAGCGGCAGCAGCGGTAGGCCCGGGCCCCACCGTGACTCTTCAGTGACAGTTTTTCTTCAAACGCCGCGCCTGTAGCCAGGACCGGCGTGCCGCGCGTCCACGCGTCCTCATTGGCTCCTGCGGGTTTGAAACTCGCTAGTCGTCAGCACGGGAGGGCGGGACAACAGGCAATAGGCTCTTTGCGGTTGGCTCTGGCCTTGAGAACCCGACCTTGGGGCCCTTTGATTGGAAGAACGTGCAGCGCACCTCGGCATTGAGGGCGGCTTCCTCGGGGCGCGGCGCCGCCCGCCTCTGAGTGCGCCTGTGAGTGCGCCTCCGAGTGGGCGTGGGACCCTCCGTGGGGGCCTCAGCCGGGCTGGTGGTTGGGGGGCGGTTACGCTGAATCCAGCTGGGGTTGGCGCGCCGGGAGTCCCTGGGCGGAGAGACAGGGCGGTCCTCCCAGGATGCTGGGGCCGCTACCTGATTCTGTCCTTTCAAAGTCTCAGACTCACAGGAGCTGTGAAAAAATAATATTATAAAGAGGACATATGGGTCTTATGCATCTAAAGGCTCCTAGTTCTTAGTACTGCAGGGTGGCTCGTTTAATTGTGGTAAAATATGCATAACATCACATATACCATTTTAACCATTTTAAAGTGTTAAATTTTTCAAAAATGTGCAGTTTAGTGGTATTAAGTACCCTCACATTGTGGCACAGCCACCACTACTGTCCTTTCCAGAACTTTTTCATCTTCCCAAATGAAACCCTGTACCCGTCACTAACTCCGCACTCCTCCCTCCCCCAGCCCCAGGCAATCACCATTCTAGTTTCTGTCTCTATGGATTTGACAACTGTAGGTGCCATATAAGTAGAATCATGCAGTATTTGTTCTGTGACTGGCTTGTTTCACTTAGCATAAAGTATTCAAGGTTCATCCATGTGTAGCATGTGTCAGAATTTCCTTTCCTTTTAAGGGGGAATAGCATTTCGTTGTGTGGAGATGCCACATTTTGCTTCTTGGTCCATCCCTCTCCGGACACTTGAGTTGCTTCCACTTTTTGGCTATTGTGAATAATAATATGAACATGAATGCACAAATAACTCTTTGAGACTCTCCTTTTCATTCTTTTGGGTATATACCACGAAGTGGTATTGTTGGATCAAACGGCAATTCTATTTTTAATTTTTTGAGAAACTGCCTTACTCCTCTCACGGTGATCTCTTGTTCAAGGTATATTTTCGATTTCACCTGATCAGCTGACTATAAGGCCATAAGGCTAACGGAGAAACGCAGGCCTAGTTTCTCCTAGTTACTAGGAGATCGCAGGCCTCGTTGTCCTGAATCCCTAGACACACTTCATTCCCCTTGTTTTAATCCTAAATTTTTTTTCTTTTGAAGTTTGTCCTGTTTCATCTATTCTCCAGTTTCTTAAAGAGGTCTGGAAAATGCTTTTGGCTCCTTGTGTATGAAGGTTCCTCTTCCATGGATGCTGGAGAAGTCGTGTGTGGAGGGGCAGTCATATCTGGGCACCTGTTGGCCAGGTTCAGCTTACCAGTTGGGTACTCAGCAGGGCATGAAGCCACTGCAGCAGCCCTTCTCTTTAGCCGTAAATAGGGAGTTTGGAAGAGAGCCAGGGTTTCTGGATTTATGCATTTTGATATTTTCAATAGTGTATTAAATGTTTAAAATAGGAAAACTGATCATTATTTTTGTTAATGACTGAGAAAGGGACTCCTTCACCAACAGTTTCAGAAAAGTGAAGGCGGTTTTGTTTTGGTCTTTGTAGAATCTAGGTGGTTGAATGCATGTCAGTTGTAGAAGTCACCTTGCCTGATATCCCACGCAGTGCTGGAGTATTCCACAGACCCCATGTAGGTACTGCACCTTTGCAGGTATACTGCTGGTGTTGGTGAGCTGCCTTACCTGTCCTGTTATTGGAGACCCCTGCTTATTAGGAAACTTAAAATGAACTCAAATGAGCTTCCTTGCTTACTGGTCCTAGTCCTTTGGAGCAACATAGGCCAGTTCTGCCTCGTTTTTTTCCATCCTTTGGGTATTTGACGGTCTATTTTGTAGGACACAAAATGTGGGAAAATAG
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Task1_train_3973
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This gene mutation involves IL37 (interleukin 37) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Inflammatory bowel disease
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TTCCACTCTAGGCACTGCTGAGGGAATGATGCCTCCAGTCAGAGGGTGCAAAAAAGAGAGTTAAGAAAAACAATGATTATAAAAAGTCCTTTTTATACGCCAGACATTTTCTTTGCTCAGGCTAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCTGTCCAAATCTGGAACCCATTTGCTTGCACAGAAAGCTTAATTGCTTGTCCCAGCAAGATAGAAAGCCTGGGAGTGGAAGAAATATTCAGTGGCTGTGATGTCTGAGCCCACAGGCAGGGTGGAGAGCTAGGGCTGGGGCCCTTGGACGTGGGGAAGAAAGGGCTGAGTCTTCCATTTTCAATGTGAAGTGTTGATATCTGGTGATATTGATCTAGGTCCAAAGGTGAAGAACTTAAACCCGAAGAAATTCAGCATTCATGACCAGGATCACAAAGTACTGGTCCTGGACTCTGGGAATCTCATAGCAGTTCCAGATAAAAACTACATACGCCCAGGTGACTCTCAGTTTTGGCTGTGTTTTCTGCCTCCACCTAGCAGGGGTAAGGCCTCCTGCTAGGTGGGCTCAACTCCATGCTATACCATGCCCCATCTCCAGCAGGTGGTGGAAGCGAGGAGGAGAGGCCCCAGGGACTAGGGCATCAGATGAAGGGTCTCTAGCAATGACCAGATCTGAAAGTAGTCTTTCTGGAAGGGCTGGAGAAAAAGAAGGAGGCAGACACTTAGACTGGAAGAAGAGGAGGCTTAAACCAGTGTGATGGAGGGAGAAGTGGACCACAGAGTCAAGGGAGAGGGACTGTGCATCAGGCCTGAAACCCCAGCAGACAGGAGAGACCTTTCCCTGCTCTCAGAACCCACACATGTTCTGACTGTCTTTTTCCAGAGATCTTCTTTGCATTAGCCTCATCCTTGAGCTCAGCCTCTGCGGAGAAAGGAAGTCCGATTCTCCTGGGGGTCTCTAAAGGGGAGTTTTGTCTCTACTGTGACAAGGATAAAGGACAAAGTCATCCATCCCTTCAGCTGAAGGTGAGAGTTCTAGCTCAGTTTCCTGGGCCTTTGGCTACCCCAAAGTAAAAGGCCAAGATCCTCAATGCCTCTCGCTTTCCTGCAAATTCTTATCTTGGCCAATATAACAGGGACATCCACCTTTCTGGAAGCACCAGGCAGAAGAGCCCCATAACTTCTTCTCTGGTTCCTTGCCCCTTCTAGGGAAGGAGGAGAGACTCCTCACAGCGGGGAGACAGCAAGGAGCTGAGCACCTGTTCTCCTCTCCTGGGCTCACTGGTCCTGGCCCTGGGCGGGTGGCGGTCCCCTCCTGCTGTGGCCCTCCATGTGGCAAGCAACACAATTGGGCCAGGACCCTGGCGTGCTGCTGTAGGGTAGGAGGGTGTGAGGGAGCACTCGGAGGGCAGTGTGTCTGCCCTGCAAATTTAGTCCTGGATGGAGCACCTTTCACTTGAGGGGAGAAATCTTAGGAAGCTGAATTAGATACAGATCTAAGCCATATTCTCTAATTTTAAAAACTATAGAGCTGAGATTTTGGTATCCATCTGACTCTTACGTCTCTCTCTCTCTCTCTCTCTCAGTTTATTTTTAATCTGGGGGACAAGAAGGCCTGGAAAAGAGGGCAGGATTGCTTATCATCCCTTAAATACCAGTACCAAGGCTGACACGTCATCTTTCCCAAGGACCATCTGCCTTCTCTCTTTTCCTCCTCTCCTGTGTAAAGGCCTGGAGGATGAGCACATGTGCTGTGTTTTCCTCCCTCTCAAAGCCTGTGCTATCTAATTAATCCCTTTTACCTCACAGAAGGAGAAACTGATGAAGCTGGCTGCCCAAAAGGAATCAGCACGCCGGCCCTTCATCTTTTATAGGGCTCAGGTGGGCTCCTGGAACATGCTGGAGTCGGCGGCTCACCCCGGATGGTTCATCTGCACCTCCTGCAATTGTAATGAGCCTGTTGGGGTGACAGATAAATTTGAGAACAGGAAACACATTGAATTTTCATTTCAACCAGTTTGCAAAGCTGAAATGAGCCCCAGTGAGGTCAGCGATTAGGAAACTGCCCCATTGAACGCCTTCCTCGCTAATTTGAACTAATTGTATAAAAACACCAAACCTGCTCACTAAACTTTCTGTCATTGGGTTTCATTTCTCATTCATGCTTTAAGGATTTGTGTTTTTAGGATATAGCAAGAAGCTTGTTTAATTACAAAGTTCTGGGTTGGAAAGAGACCGGCTTCTGCTTGTGTACTGCTACCCTGAACCATCAGACATGCATGTGTGTGTCATATGCTATGATGTGGCCAGTCTGAGTGCAATACTTGCAGTGGGAAGGAGCAGCTGGGTGCATGCTGTGCTCTAGAATTAGTCTTTCCTACTGGGGTTTGGTAGATTCTGAGGGCATTGATCCTGGGGCAGAAGTGGCTGAGTCTGTGTCTAGGGTACAGTGTGCAAGAAAGAAATGTAACAGCAAGTCACAATCCAGCCAAGTGATAGTGGAAAAGGGGTAGTTAGGTCCCAGATAAGGAGCAGGGTGACTTGACCTGTGGGAAAGGCACAGAGACAAGGAATCTGGGTCAGATGACAGCCAGGAGACCAGGTGAGGGAGGAGCCAGGTACTGTCTGGGAGGCTTGTCAACAAGGGCATGGTCCTATCACTAAGCAGGGCTCAGATCCTCATAATGGGGGAGTGGAAGGCTGGCCGAACAGAAATCAGGGCCTGGAAACAGAGTGAGGGGGTGGAGACAGGAGACTGAGGCTTGGAAATTAGTTTATTAGTTTTAGCTCTTCAGTTACAAGCAATAATAATAGCTTCTAGCTTATTTAAGCAACAAGTATACTACAAAAGGAGCTTTCTAGAAGGATATTGGGTATATTCATTTCTTACTGCTGCTGTAACAAATTACCACCAACTTAGTGGTTTAAACAATGCAATGTATTATCTTGCAGTTATGGAGGTCAGTCTGGAATGTGTCTCACTGGGCCAAAATCAAAGTATCAGCAGGATAGCATTGCTTTGGGAGGCTCTAGGGGAGAGTCAATTTCCTTGCCTTTTCCAGCTTCCAGAGGCCACCTGCATTCCTTGGCTAGTGGCCCACTCCCATCTTCGCTGCTTGGGTTTTTCTCACACTGCTTTGCTCTGACCCTCCTGCCTTCCTCTTTCACATATAAGAACGCTTGCAATTTACATCGGGCTCACGTCAATATCCAGGATACTCTCCCGTCTCAAAGAGGCTTAACTTTAATCACAGATGCAAAGTCCCTTTTGCTATGTCATGTAACATATACACAGGGTCTGGGGATTAGAATGTGGACATTTTCGGGGTGCCATTATTCTGCCTATCATGTGAAGTAACTTTCAAAATGGAAAGACATGCTGAAGAAAAAGTCAGGGATTTCTGGCAGGCCAGAAATGACAGAAGGCAGAAAACGTTGGTCCCATCACTCAGATGGGTAAGAGCCAATCATGCTTTTTGTCAGTTAGCAAAAGATTGAGATTCCAAGCAAAGCATGCAACTGCCCTAGTTTGGGTCATGTGTCGACTCCTTGGTCAGTGAAGGGCAGCACACCTTGATCAATACTCCCTCCAAGACTGTATCCAACGAGGCCAGTGATGTTCCTCAAAGCAGAGCTAGAGAGCTAATCCCAGGAGAGAGGCGTGTGGGTGGTGGGCAGGAAGACAAAGCTCAGCCGTAAAGGAGTAGTAGGGACAGCACCCCAGGCATGGAGGCTCAAGTGAGATGATACCCATGGGAAAAGCTCTGATAAGGTCAGCTCCTTCTGTTTCTGATCCTGATGGTGATGGTGATCAACACCAGCCCAGTGACAAAAAAGTACATAGTATATTTAGTAGATGTTTCCCACACAGAGAAATGGTAAATATTCAAGGCGAGGAATACTCCAAACATCCTACCTTGATCATTACACATTCCGTGCATGTAATGAGTACTTGCATGTATGCCATAAATATGTGAA
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TTCCACTCTAGGCACTGCTGAGGGAATGATGCCTCCAGTCAGAGGGTGCAAAAAAGAGAGTTAAGAAAAACAATGATTATAAAAAGTCCTTTTTATACGCCAGACATTTTCTTTGCTCAGGCTAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCTGTCCAAATCTGGAACCCATTTGCTTGCACAGAAAGCTTAATTGCTTGTCCCAGCAAGATAGAAAGCCTGGGAGTGGAAGAAATATTCAGTGGCTGTGATGTCTGAGCCCACAGGCAGGGTGGAGAGCTAGGGCTGGGGCCCTTGGACGTGGGGAAGAAAGGGCTGAGTCTTCCATTTTCAATGTGAAGTGTTGATATCTGGTGATATTGATCTAGGTCCAAAGGTGAAGAACTTAAACCCGAAGAAATTCAGCATTCATGACCAGGATCACAAAGTACTGGTCCTGGACTCTGGGAATCTCATAGCAGTTCCAGATAAAAACTACATACGCCCAGGTGACTCTCAGTTTTGGCTGTGTTTTCTGCCTCCACCTAGCAGGGGTAAGGCCTCCTGCTAGGTGGGCTCAACTCCATGCTATACCATGCCCCATCTCCAGCAGGTGGTGGAAGCGAGGAGGAGAGGCCCCAGGGACTAGGGCATCAGATGAAGGGTCTCTAGCAATGACCAGATCTGAAAGTAGTCTTTCTGGAAGGGCTGGAGAAAAAGAAGGAGGCAGACACTTAGACTGGAAGAAGAGGAGGCTTAAACCAGTGTGATGGAGGGAGAAGTGGACCACAGAGTCAAGGGAGAGGGACTGTGCATCAGGCCTGAAACCCCAGCAGACAGGAGAGACCTTTCCCTGCTCTCAGAACCCACACATGTTCTGACTGTCTTTTTCCAGAGATCTTCTTTGCATTAGCCTCATCCTTGAGCTCAGCCTCTGCGGAGAAAGGAAGTCCGATTCTCCTGGGGGTCTCTAAAGGGGAGTTTTGTCTCTACTGTGACAAGGATAAAGGACAAAGTCATCCATCCCTTCAGCTGAAGGTGAGAGTTCTAGCTCAGTTTCCTGGGCCTTTGGCTACCCCAAAGTAAAAGGCCAAGATCCTCAATGCCTCTCGCTTTCCTGCAAATTCTTATCTTGGCCAATATAACAGGGACATCCACCTTTCTGGAAGCACCAGGCAGAAGAGCCCCATAACTTCTTCTCTGGTTCCTTGCCCCTTCTAGGGAAGGAGGAGAGACTCCTCACAGCGGGGAGACAGCAAGGAGCTGAGCACCTGTTCTCCTCTCCTGGGCTCACTGGTCCTGGCCCTGGGCGGGTGGCGGTCCCCTCCTGCTGTGGCCCTCCATGTGGCAAGCAACACAATTGGGCCAGGACCCTGGCGTGCTGCTGTAGGGTAGGAGGGTGTGAGGGAGCACTCGGAGGGCAGTGTGTCTGCCCTGCAAATTTAGTCCTGGATGGAGCACCTTTCACTTGAGGGGAGAAATCTTAGGAAGCTGAATTAGATACAGATCTAAGCCATATTCTCTAATTTTAAAAACTATAGAGCTGAGATTTTGGTATCCATCTGACTCTTACGTCTCTCTCTCTCTCTCTCTCTCAGTTTATTTTTAATCTGGGGGACAAGAAGGCCTGGAAAAGAGGGCAGGATTGCTTATCATCCCTTAAATACCAGTACCAAGGCTGACACGTCATCTTTCCCAAGGACCATCTGCCTTCTCTCTTTTCCTCCTCTCCTGTGTAAAGGCCTGGAGGATGAGCACATGTGCTGTGTTTTCCTCCCTCTCAAAGCCTGTGCTATCTAATTAATCCCTTTTACCTCACAGAAGGAGAAACTGATGAAGCTGGCTGCCCAAAAGGAATCAGCACGCCGGCCCTTCATCTTTTATAGGGCTCAGGTGGGCTCCTGGAACATGCTGGAGTCGGCGGCTCACCCCGGATGGTTCACCTGCACCTCCTGCAATTGTAATGAGCCTGTTGGGGTGACAGATAAATTTGAGAACAGGAAACACATTGAATTTTCATTTCAACCAGTTTGCAAAGCTGAAATGAGCCCCAGTGAGGTCAGCGATTAGGAAACTGCCCCATTGAACGCCTTCCTCGCTAATTTGAACTAATTGTATAAAAACACCAAACCTGCTCACTAAACTTTCTGTCATTGGGTTTCATTTCTCATTCATGCTTTAAGGATTTGTGTTTTTAGGATATAGCAAGAAGCTTGTTTAATTACAAAGTTCTGGGTTGGAAAGAGACCGGCTTCTGCTTGTGTACTGCTACCCTGAACCATCAGACATGCATGTGTGTGTCATATGCTATGATGTGGCCAGTCTGAGTGCAATACTTGCAGTGGGAAGGAGCAGCTGGGTGCATGCTGTGCTCTAGAATTAGTCTTTCCTACTGGGGTTTGGTAGATTCTGAGGGCATTGATCCTGGGGCAGAAGTGGCTGAGTCTGTGTCTAGGGTACAGTGTGCAAGAAAGAAATGTAACAGCAAGTCACAATCCAGCCAAGTGATAGTGGAAAAGGGGTAGTTAGGTCCCAGATAAGGAGCAGGGTGACTTGACCTGTGGGAAAGGCACAGAGACAAGGAATCTGGGTCAGATGACAGCCAGGAGACCAGGTGAGGGAGGAGCCAGGTACTGTCTGGGAGGCTTGTCAACAAGGGCATGGTCCTATCACTAAGCAGGGCTCAGATCCTCATAATGGGGGAGTGGAAGGCTGGCCGAACAGAAATCAGGGCCTGGAAACAGAGTGAGGGGGTGGAGACAGGAGACTGAGGCTTGGAAATTAGTTTATTAGTTTTAGCTCTTCAGTTACAAGCAATAATAATAGCTTCTAGCTTATTTAAGCAACAAGTATACTACAAAAGGAGCTTTCTAGAAGGATATTGGGTATATTCATTTCTTACTGCTGCTGTAACAAATTACCACCAACTTAGTGGTTTAAACAATGCAATGTATTATCTTGCAGTTATGGAGGTCAGTCTGGAATGTGTCTCACTGGGCCAAAATCAAAGTATCAGCAGGATAGCATTGCTTTGGGAGGCTCTAGGGGAGAGTCAATTTCCTTGCCTTTTCCAGCTTCCAGAGGCCACCTGCATTCCTTGGCTAGTGGCCCACTCCCATCTTCGCTGCTTGGGTTTTTCTCACACTGCTTTGCTCTGACCCTCCTGCCTTCCTCTTTCACATATAAGAACGCTTGCAATTTACATCGGGCTCACGTCAATATCCAGGATACTCTCCCGTCTCAAAGAGGCTTAACTTTAATCACAGATGCAAAGTCCCTTTTGCTATGTCATGTAACATATACACAGGGTCTGGGGATTAGAATGTGGACATTTTCGGGGTGCCATTATTCTGCCTATCATGTGAAGTAACTTTCAAAATGGAAAGACATGCTGAAGAAAAAGTCAGGGATTTCTGGCAGGCCAGAAATGACAGAAGGCAGAAAACGTTGGTCCCATCACTCAGATGGGTAAGAGCCAATCATGCTTTTTGTCAGTTAGCAAAAGATTGAGATTCCAAGCAAAGCATGCAACTGCCCTAGTTTGGGTCATGTGTCGACTCCTTGGTCAGTGAAGGGCAGCACACCTTGATCAATACTCCCTCCAAGACTGTATCCAACGAGGCCAGTGATGTTCCTCAAAGCAGAGCTAGAGAGCTAATCCCAGGAGAGAGGCGTGTGGGTGGTGGGCAGGAAGACAAAGCTCAGCCGTAAAGGAGTAGTAGGGACAGCACCCCAGGCATGGAGGCTCAAGTGAGATGATACCCATGGGAAAAGCTCTGATAAGGTCAGCTCCTTCTGTTTCTGATCCTGATGGTGATGGTGATCAACACCAGCCCAGTGACAAAAAAGTACATAGTATATTTAGTAGATGTTTCCCACACAGAGAAATGGTAAATATTCAAGGCGAGGAATACTCCAAACATCCTACCTTGATCATTACACATTCCGTGCATGTAATGAGTACTTGCATGTATGCCATAAATATGTGAA
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Task1_train_3974
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The gene IL36RN (interleukin 36 receptor antagonist), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Generalized pustular psoriasis
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GAAAGATGGAAAGAAGGAAGAAAGGGAGGGAGGCAGGGAGGAAAGAAAGTCGCGCTTCCCTTGAGCTGCCATGGGCACTGACTCTTAGGGTCTGAAAGCCCCTGAGATGCAAAAGCCTAGTGCTCACAAAGAGCTGGAAAGCCTCAAGGAAGTTCTTCAATATTTCTGGAAGGAAACTGTCTCCAGAAGCTTCCCTCCCCACGACAGATAATGAGCAGCAAGTGCTTCTGGCGACTTAGGGTGATGTGAAATCACGCTGGGAATCCTGCTCCTCCTCAGGTCCTGGCAGTTTCAGGGCCCCTCCCTAGGCCTTACTTAAAAGGCTGAGGCATCCTTGGAGGAACAGGCAGACTCCACAGCTCCCGCCAGGAGAAAGGAACATTCTGAGGTATGCTCTGGGGCGCTGGTGGTACCGGAGCTCTCTCCTGACCCCAGACCCAGAATCTGCTCCGTGGAGGCTGTTCACATGCTGGGGAGCTCGGTGCAGCTGCTTGCTCCCCAGACCCCAGCCAACTCAGCCTCTCTCTCCATGATTTTCTGTTGTTTATTCCAAAATAGGGGAGTCTACACCCTGTGGAGCTCAAGATGGTCCTGAGTGGGGCGCTGTGCTTCCGGTGAGTGTATGAGGCCCTGGTTTGGTGGTGTCCTCCGGAGGAAGTGAGTTCTGGATAGACCCGTTGTCCAGCTCTGAGCAGGAGGGAGGAAGGGAGGGGCTGCCATTGCAGCTGGGAAATTGTGACCAGCACCTCACTGCTCTTAGAGTTTTCCCAGCCTTTTTCAAATAGGGGCAGGACTGGGGCAGGCCATCTCACAAGGGGTCCCTGATGCTGAGGGGGATAAGTGAACCTCCCAGTCTAGAGCTCCAGCCAAGTCTATCCAAGGTGGGAACGGGGGCCAGGATCCCTGCTCAGAGCTCCGCCATTGTCCCCCATCACAGTGAATGGATGTAAGCTCACCCACTCTGTGCCCCTGCCTCCCTGCTACTCTTTGGGGATAATAATAAAACAAAAACCATTACCATCAGTCAGTCTGTCCACCCACTGGCATGTACCAAGCCAGACACTCTGCCGTGTTCTGGGCTTTACAACAGAGGATGAGAGTGGTCCTTTCTCTCAGTCTAATAAAGCACTTCCCATGATGTGTTCTATGGGACTCGATTAGAGGAGTCCCACAGAGGCATCCAGGAGATGCTTTACACAGTGGAGCTCTCTGATCAAGTAAATGCAGGGAATTCTGCTTTCTACATCCTCTCATAAGAGAACCACAGCCCAGCTCAGCATATGAGTGACTCTGAGGTTTTCTGAAGTAAGGCAACTTGTTGAATTGTATTTAGCCATGCATCGACCCAATTTTTACACTGCATCCTTTTCCCCCATATAACTTTTGGAGAAACCCACTTTAGGATACATCTTCCACCTCATAGGATGCCAGGAAATCAACTGAGTTCAAAGATGAGAAACAACTTTGAAAAGTTAAATAAAAGAAATTTAAATTTAAAGAAACTCCTCACTTAGTAAGGAATATATGACCAAATAGAAATACATGTATCTTGAAGAATTGAAGAATCAGGCTTTAACGTGGAAGAGGCCTGGATGTTATCCAACCCATCATCTTAGTGTAGCAATGGGGAGGCTCAGGCCCAGAGTGGGCGAGAGAGTTGTCTCCTGCGACTCAGCAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTTCAGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTCTATACACTCTCAGGGGAGGGGGCCTGAAGAGGGCTTAGAATAGTCATACAGATTAGCATAGGCCTACAGAGCCCAGGCATTGGGGCAGCACAAACCAGGCTCTAAGCAAAGGCAAATAAAATACTACACCTCTCAGCAAAGTGAAGACACAGGCTCTGGGGCCACCTGAAGCTTCTATGCAGAAGTGGGAATGTTTTCCAAGAGGCTTGTCTTGTCATTCCCTTACAGGTAGATTTAGGTCAAGCATTGCATTCCCTGGGAGCCAGTAAGTACCAAGGAGAGAACTAACGTAGATTCTCTATACCTTTTTTCCCATATGGGAGTGGGTTTCTGCCTCTCCACCCTGGGTCCCCTCTGCTCTCTGAAGATCCTCAGTCACTTAGAGTGGAGGGACCCAGAGAACAGGTGGCATTGTTGGACCTCCTGCTTGCTCACTCTGCCCCATGCACTGCAACACGTCCCTCTCTAAAATAGTTTGCACCTGCCCACCTGGGGCACCCTTGCTGAGCACAGATGCCAGGTAGATCCTTCAGCTAGGCCATATGTGTATGTGTGTGCTTACTGGTGTATGTATGTGTGCATGCAGGCATATATGTGTGAGCATGTGTGCATGCATGTATCTGTGTGTAACCATGTATGTGTGAGTGCAGGTATGTAGGTATGAGCATGTGTGTGTATATGTATATGTGTGCATGCATGTATCTGTGTATGTATGTATCTGATGTATGTGGGTGGTGAGGGGATGTACAGAGAGGAATGAGACCCTCTTTTGCTCTCAGCAACATCACAGGGTGTAGAAAGTTGTCCAAACAATTCCAAAGGGGGGCTTATCAAGACAGGGTTCAGAAAAAGGCCTGAGACCCAAGGGACATTAAAGGAGGGGGTTGAATCTATTTTGGGGTGTAGAGGCTTGAAGATTTGACCCTGAACTAGAGGGTGGAGTGGAGGTGGTACAATGTGCTTCCATGCCTTGATGTCCACTCTGAGCCAGTGGACAGGAGAAGCCATGTCATGACAGCTGCTGAGAAGCCTCCCTTCTGCCCAGCCTGGGGGCAGGCCGTCTTACAGCAGTCCTGTGCCCTAGAGCCCAGGACAGGGGAAGAAGGAGGGAAAGGCATCCAGGGCCCTGCATCTGGCCTCTTTCCCACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGGTGAGACTTGGGGCATCCTCACTGGGGACTCAGCCACAGATGCTGAGCCTACTGAAGCCGGGCAGCCCACAGCCCTGGTGCTGTGGGACACCCTAGCAGGATTCTGTTGATGGCAGCTTTGCCTCCTCCCTAAGGATCCTGCCCAGCCCTCCCTCTGCCCCTGCTTCTGCCCTCACCTGACCTCCCCTCCTCTGCCGGCAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCACGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAATCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTG
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GAAAGATGGAAAGAAGGAAGAAAGGGAGGGAGGCAGGGAGGAAAGAAAGTCGCGCTTCCCTTGAGCTGCCATGGGCACTGACTCTTAGGGTCTGAAAGCCCCTGAGATGCAAAAGCCTAGTGCTCACAAAGAGCTGGAAAGCCTCAAGGAAGTTCTTCAATATTTCTGGAAGGAAACTGTCTCCAGAAGCTTCCCTCCCCACGACAGATAATGAGCAGCAAGTGCTTCTGGCGACTTAGGGTGATGTGAAATCACGCTGGGAATCCTGCTCCTCCTCAGGTCCTGGCAGTTTCAGGGCCCCTCCCTAGGCCTTACTTAAAAGGCTGAGGCATCCTTGGAGGAACAGGCAGACTCCACAGCTCCCGCCAGGAGAAAGGAACATTCTGAGGTATGCTCTGGGGCGCTGGTGGTACCGGAGCTCTCTCCTGACCCCAGACCCAGAATCTGCTCCGTGGAGGCTGTTCACATGCTGGGGAGCTCGGTGCAGCTGCTTGCTCCCCAGACCCCAGCCAACTCAGCCTCTCTCTCCATGATTTTCTGTTGTTTATTCCAAAATAGGGGAGTCTACACCCTGTGGAGCTCAAGATGGTCCTGAGTGGGGCGCTGTGCTTCCGGTGAGTGTATGAGGCCCTGGTTTGGTGGTGTCCTCCGGAGGAAGTGAGTTCTGGATAGACCCGTTGTCCAGCTCTGAGCAGGAGGGAGGAAGGGAGGGGCTGCCATTGCAGCTGGGAAATTGTGACCAGCACCTCACTGCTCTTAGAGTTTTCCCAGCCTTTTTCAAATAGGGGCAGGACTGGGGCAGGCCATCTCACAAGGGGTCCCTGATGCTGAGGGGGATAAGTGAACCTCCCAGTCTAGAGCTCCAGCCAAGTCTATCCAAGGTGGGAACGGGGGCCAGGATCCCTGCTCAGAGCTCCGCCATTGTCCCCCATCACAGTGAATGGATGTAAGCTCACCCACTCTGTGCCCCTGCCTCCCTGCTACTCTTTGGGGATAATAATAAAACAAAAACCATTACCATCAGTCAGTCTGTCCACCCACTGGCATGTACCAAGCCAGACACTCTGCCGTGTTCTGGGCTTTACAACAGAGGATGAGAGTGGTCCTTTCTCTCAGTCTAATAAAGCACTTCCCATGATGTGTTCTATGGGACTCGATTAGAGGAGTCCCACAGAGGCATCCAGGAGATGCTTTACACAGTGGAGCTCTCTGATCAAGTAAATGCAGGGAATTCTGCTTTCTACATCCTCTCATAAGAGAACCACAGCCCAGCTCAGCATATGAGTGACTCTGAGGTTTTCTGAAGTAAGGCAACTTGTTGAATTGTATTTAGCCATGCATCGACCCAATTTTTACACTGCATCCTTTTCCCCCATATAACTTTTGGAGAAACCCACTTTAGGATACATCTTCCACCTCATAGGATGCCAGGAAATCAACTGAGTTCAAAGATGAGAAACAACTTTGAAAAGTTAAATAAAAGAAATTTAAATTTAAAGAAACTCCTCACTTAGTAAGGAATATATGACCAAATAGAAATACATGTATCTTGAAGAATTGAAGAATCAGGCTTTAACGTGGAAGAGGCCTGGATGTTATCCAACCCATCATCTTAGTGTAGCAATGGGGAGGCTCAGGCCCAGAGTGGGCGAGAGAGTTGTCTCCTGCGACTCAGCAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTTCAGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCCAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTCTATACACTCTCAGGGGAGGGGGCCTGAAGAGGGCTTAGAATAGTCATACAGATTAGCATAGGCCTACAGAGCCCAGGCATTGGGGCAGCACAAACCAGGCTCTAAGCAAAGGCAAATAAAATACTACACCTCTCAGCAAAGTGAAGACACAGGCTCTGGGGCCACCTGAAGCTTCTATGCAGAAGTGGGAATGTTTTCCAAGAGGCTTGTCTTGTCATTCCCTTACAGGTAGATTTAGGTCAAGCATTGCATTCCCTGGGAGCCAGTAAGTACCAAGGAGAGAACTAACGTAGATTCTCTATACCTTTTTTCCCATATGGGAGTGGGTTTCTGCCTCTCCACCCTGGGTCCCCTCTGCTCTCTGAAGATCCTCAGTCACTTAGAGTGGAGGGACCCAGAGAACAGGTGGCATTGTTGGACCTCCTGCTTGCTCACTCTGCCCCATGCACTGCAACACGTCCCTCTCTAAAATAGTTTGCACCTGCCCACCTGGGGCACCCTTGCTGAGCACAGATGCCAGGTAGATCCTTCAGCTAGGCCATATGTGTATGTGTGTGCTTACTGGTGTATGTATGTGTGCATGCAGGCATATATGTGTGAGCATGTGTGCATGCATGTATCTGTGTGTAACCATGTATGTGTGAGTGCAGGTATGTAGGTATGAGCATGTGTGTGTATATGTATATGTGTGCATGCATGTATCTGTGTATGTATGTATCTGATGTATGTGGGTGGTGAGGGGATGTACAGAGAGGAATGAGACCCTCTTTTGCTCTCAGCAACATCACAGGGTGTAGAAAGTTGTCCAAACAATTCCAAAGGGGGGCTTATCAAGACAGGGTTCAGAAAAAGGCCTGAGACCCAAGGGACATTAAAGGAGGGGGTTGAATCTATTTTGGGGTGTAGAGGCTTGAAGATTTGACCCTGAACTAGAGGGTGGAGTGGAGGTGGTACAATGTGCTTCCATGCCTTGATGTCCACTCTGAGCCAGTGGACAGGAGAAGCCATGTCATGACAGCTGCTGAGAAGCCTCCCTTCTGCCCAGCCTGGGGGCAGGCCGTCTTACAGCAGTCCTGTGCCCTAGAGCCCAGGACAGGGGAAGAAGGAGGGAAAGGCATCCAGGGCCCTGCATCTGGCCTCTTTCCCACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGGTGAGACTTGGGGCATCCTCACTGGGGACTCAGCCACAGATGCTGAGCCTACTGAAGCCGGGCAGCCCACAGCCCTGGTGCTGTGGGACACCCTAGCAGGATTCTGTTGATGGCAGCTTTGCCTCCTCCCTAAGGATCCTGCCCAGCCCTCCCTCTGCCCCTGCTTCTGCCCTCACCTGACCTCCCCTCCTCTGCCGGCAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCACGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAATCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTG
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Task1_train_3975
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A mutation found in IL36RN (interleukin 36 receptor antagonist) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Acrodermatitis continua suppurativa of Hallopeau
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CAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTTCAGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTCTATACACTCTCAGGGGAGGGGGCCTGAAGAGGGCTTAGAATAGTCATACAGATTAGCATAGGCCTACAGAGCCCAGGCATTGGGGCAGCACAAACCAGGCTCTAAGCAAAGGCAAATAAAATACTACACCTCTCAGCAAAGTGAAGACACAGGCTCTGGGGCCACCTGAAGCTTCTATGCAGAAGTGGGAATGTTTTCCAAGAGGCTTGTCTTGTCATTCCCTTACAGGTAGATTTAGGTCAAGCATTGCATTCCCTGGGAGCCAGTAAGTACCAAGGAGAGAACTAACGTAGATTCTCTATACCTTTTTTCCCATATGGGAGTGGGTTTCTGCCTCTCCACCCTGGGTCCCCTCTGCTCTCTGAAGATCCTCAGTCACTTAGAGTGGAGGGACCCAGAGAACAGGTGGCATTGTTGGACCTCCTGCTTGCTCACTCTGCCCCATGCACTGCAACACGTCCCTCTCTAAAATAGTTTGCACCTGCCCACCTGGGGCACCCTTGCTGAGCACAGATGCCAGGTAGATCCTTCAGCTAGGCCATATGTGTATGTGTGTGCTTACTGGTGTATGTATGTGTGCATGCAGGCATATATGTGTGAGCATGTGTGCATGCATGTATCTGTGTGTAACCATGTATGTGTGAGTGCAGGTATGTAGGTATGAGCATGTGTGTGTATATGTATATGTGTGCATGCATGTATCTGTGTATGTATGTATCTGATGTATGTGGGTGGTGAGGGGATGTACAGAGAGGAATGAGACCCTCTTTTGCTCTCAGCAACATCACAGGGTGTAGAAAGTTGTCCAAACAATTCCAAAGGGGGGCTTATCAAGACAGGGTTCAGAAAAAGGCCTGAGACCCAAGGGACATTAAAGGAGGGGGTTGAATCTATTTTGGGGTGTAGAGGCTTGAAGATTTGACCCTGAACTAGAGGGTGGAGTGGAGGTGGTACAATGTGCTTCCATGCCTTGATGTCCACTCTGAGCCAGTGGACAGGAGAAGCCATGTCATGACAGCTGCTGAGAAGCCTCCCTTCTGCCCAGCCTGGGGGCAGGCCGTCTTACAGCAGTCCTGTGCCCTAGAGCCCAGGACAGGGGAAGAAGGAGGGAAAGGCATCCAGGGCCCTGCATCTGGCCTCTTTCCCACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGGTGAGACTTGGGGCATCCTCACTGGGGACTCAGCCACAGATGCTGAGCCTACTGAAGCCGGGCAGCCCACAGCCCTGGTGCTGTGGGACACCCTAGCAGGATTCTGTTGATGGCAGCTTTGCCTCCTCCCTAAGGATCCTGCCCAGCCCTCCCTCTGCCCCTGCTTCTGCCCTCACCTGACCTCCCCTCCTCTGCCGGCAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCACGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAATCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGAGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGACCAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGACCTGTCACTCACCACTATGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCTCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGCTGATGTCAGAAGAAATGGCTCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCTGGTCTCTATTCCCATGAAAAAGTGCTCATGACATATTGAGAAGACCTACTTACAAAGTGGCATATATTGCAATTTATTTTAATTAAAAGATACCTATTTATATATTTCTTTATAGAAAAAAGTCTGGAAGAGTTTACTTCAATTGTAGCAATGTCAGGGTGGTGGCAGTATAGGTGATTTTTCTTTTAATTCTGTTAATTTACCTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGTAGACATCATCTCTGATTGTCCTCAGCCTCCACTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAACAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTGCTGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCTTTCCTAGAAGGATCACAGCCCCTGGGATTCCAAGGCATTGGATCCAGTCTCTAAGAAGGCTGCTGTACTGGTTGAATTGTGTCCCCCTCAAATTCACATCCTTCTTGGAATCTCAGTCTGTGAGTTTATTTGGAGATAAGGTCTCTGCAGATGTAGTTAGTTAAGACAAGGTCATGCTGGATGAAGGTAGACCTAAATTCAATATGACTGGTTTCCTTGTATGAAAAGGAGAGGACACAGAGACAGAGGAGATGCGGGGAAGACTATGTAAAGATGAAGGCAGAGATCGGAGTTTTGCAGCCACAAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAGGCAAAGAAGAATTCTTCCCTAGAGGCTTTAGAGGGATAACGGCTCTGCTGAAACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTACAGCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTTGTGACCAATAGAATATGGCAGAAGTGATGGCATGCCACTTCCAAGATTAGGTTATAAAAGACACTGCAGCTTCTACTTGAGCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCTGCCATGCTATGAGCAGGCCTATAAAGAGACTTACGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCA
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CAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTTCAGAATGAAGGACTCGGCATTGAAGGTGCTTTATCTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAGGTTGGTGATGAAACATGACCCACTTTCCTTGGTCTCTATACACTCTCAGGGGAGGGGGCCTGAAGAGGGCTTAGAATAGTCATACAGATTAGCATAGGCCTACAGAGCCCAGGCATTGGGGCAGCACAAACCAGGCTCTAAGCAAAGGCAAATAAAATACTACACCTCTCAGCAAAGTGAAGACACAGGCTCTGGGGCCACCTGAAGCTTCTATGCAGAAGTGGGAATGTTTTCCAAGAGGCTTGTCTTGTCATTCCCTTACAGGTAGATTTAGGTCAAGCATTGCATTCCCTGGGAGCCAGTAAGTACCAAGGAGAGAACTAACGTAGATTCTCTATACCTTTTTTCCCATATGGGAGTGGGTTTCTGCCTCTCCACCCTGGGTCCCCTCTGCTCTCTGAAGATCCTCAGTCACTTAGAGTGGAGGGACCCAGAGAACAGGTGGCATTGTTGGACCTCCTGCTTGCTCACTCTGCCCCATGCACTGCAACACGTCCCTCTCTAAAATAGTTTGCACCTGCCCACCTGGGGCACCCTTGCTGAGCACAGATGCCAGGTAGATCCTTCAGCTAGGCCATATGTGTATGTGTGTGCTTACTGGTGTATGTATGTGTGCATGCAGGCATATATGTGTGAGCATGTGTGCATGCATGTATCTGTGTGTAACCATGTATGTGTGAGTGCAGGTATGTAGGTATGAGCATGTGTGTGTATATGTATATGTGTGCATGCATGTATCTGTGTATGTATGTATCTGATGTATGTGGGTGGTGAGGGGATGTACAGAGAGGAATGAGACCCTCTTTTGCTCTCAGCAACATCACAGGGTGTAGAAAGTTGTCCAAACAATTCCAAAGGGGGGCTTATCAAGACAGGGTTCAGAAAAAGGCCTGAGACCCAAGGGACATTAAAGGAGGGGGTTGAATCTATTTTGGGGTGTAGAGGCTTGAAGATTTGACCCTGAACTAGAGGGTGGAGTGGAGGTGGTACAATGTGCTTCCATGCCTTGATGTCCACTCTGAGCCAGTGGACAGGAGAAGCCATGTCATGACAGCTGCTGAGAAGCCTCCCTTCTGCCCAGCCTGGGGGCAGGCCGTCTTACAGCAGTCCTGTGCCCTAGAGCCCAGGACAGGGGAAGAAGGAGGGAAAGGCATCCAGGGCCCTGCATCTGGCCTCTTTCCCACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGTGTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTAGAGGTGAGACTTGGGGCATCCTCACTGGGGACTCAGCCACAGATGCTGAGCCTACTGAAGCCGGGCAGCCCACAGCCCTGGTGCTGTGGGACACCCTAGCAGGATTCTGTTGATGGCAGCTTTGCCTCCTCCCTAAGGATCCTGCCCAGCCCTCCCTCTGCCCCTGCTTCTGCCCTCACCTGACCTCCCCTCCTCTGCCGGCAGCCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTCCTGTGCAGGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGTGGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAGGGCAACGTGCCCCCCAGAACTCCCTGGGCAGAGCCAGCTCGGGTGAGGGGTGAGTGGAGGAGACCCATGGCGGACAATCACTCTCTCTGCTCTCAGGACCCCCACGTCTGACTTAGTGGGCACCTGACCACTTTGTCTTCTGGTTCCCAGTTTGGATAAATTCTGAGATTTGGAGCTCAGTCCACGGTCCTCCCCCACTGGATGGTGCTACTGCTGTGGAATCTTGTAAAAACCATGTGGGGTAAACTGGGAATAACATGAAAAGATTTCTGTGGAGGTGGGGTGGGGGAGTGGTGGGAATCATTCCTGCTTAATGGTAACTGACCAGTGTTACCCTGAGCCCCGCAGGCCAACCCATCCCCAGTTGAGCCTTATAGGGTCAGTAGCTCTCCACATGAAGACCTGTCACTCACCACTATGCAGGAGAGGGAGGTGGTCATAGAGTCAGGGATCTATGGCCCTTGGCCCAGCCCCACCTCCTTCCCTTTAATCCTGCCACTGTCATATGCTACCTTTCCTATCTCTTCCCTCATCATCTTGTTGTGGGCATGAGGAGGTGCTGATGTCAGAAGAAATGGCTCGAGCTCAGAAGATAAAAGATAAGTAGGGTATGCTGATCCTCTTTTAAAAACCCAAGATACAATCAAAATCCCAGATGCTGGTCTCTATTCCCATGAAAAAGTGCTCATGACATATTGAGAAGACCTACTTACAAAGTGGCATATATTGCAATTTATTTTAATTAAAAGATACCTATTTATATATTTCTTTATAGAAAAAAGTCTGGAAGAGTTTACTTCAATTGTAGCAATGTCAGGGTGGTGGCAGTATAGGTGATTTTTCTTTTAATTCTGTTAATTTACCTGTATTTCCTAATTTTTCTACAATGAAGATGAATTCCTTGTATAAAAATAAGAAAAGAAATTAATCTTGAGGTAAGCAGAGTAGACATCATCTCTGATTGTCCTCAGCCTCCACTTCCCCAGAGTAAATTCAAATTGAATCGAGCTCTGCTGCTCTGGTTGGTTGTAGTAGTGATCAGGAAACAGATCTCAGCAAAGCCACTGAGGAGGAGGCTGTGCTGAGTTTGTGTGGCTGGAATCTCTGGGTAAGGAACTTAAAGAACAAAAATCATCTGGTAATTCTTTCCTAGAAGGATCACAGCCCCTGGGATTCCAAGGCATTGGATCCAGTCTCTAAGAAGGCTGCTGTACTGGTTGAATTGTGTCCCCCTCAAATTCACATCCTTCTTGGAATCTCAGTCTGTGAGTTTATTTGGAGATAAGGTCTCTGCAGATGTAGTTAGTTAAGACAAGGTCATGCTGGATGAAGGTAGACCTAAATTCAATATGACTGGTTTCCTTGTATGAAAAGGAGAGGACACAGAGACAGAGGAGATGCGGGGAAGACTATGTAAAGATGAAGGCAGAGATCGGAGTTTTGCAGCCACAAGCTAAGAAACACCAAGGATTGTGGCAACCATCAGAAGCTTGGAAGAGGCAAAGAAGAATTCTTCCCTAGAGGCTTTAGAGGGATAACGGCTCTGCTGAAACCTTAATCTCAGACTTCCAGCCTCCTGAACGAAGAAAGAATAAATTTCGGCTGTTTTAAGCCACCAAGGATAATTGGTTACAGCAGCTCTAGGAAACTAATACAGCTGCTAAAATGATCCCTGTCTCCTCGTGTTTACATTCTGTGTGTGTCCCCTCCCACAATGTACCAAAGTTGTCTTTGTGACCAATAGAATATGGCAGAAGTGATGGCATGCCACTTCCAAGATTAGGTTATAAAAGACACTGCAGCTTCTACTTGAGCCCTCTCTCTCTGCCACCCACCGCCCCCAATCTATCTTGGCTCACTCGCTCTGGGGGAAGCTAGCTGCCATGCTATGAGCAGGCCTATAAAGAGACTTACGTGGTAAAAAATGAAGTCTCCTGCCCACAGCCA
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Task1_train_3976
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Given this context: Chromosome 2, gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Congenital hypothyroidism
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TTCTCAACTCATTCATTTGTTCATTCATTCACTATACCATTACTGTCTATTATAAGGGGGGCACAATGGTAGGTGCTGGGAATAAAAACGATGTTTAACGTTTCATGAGGCTTCCCTGTCCTTAAGGAGTCCGCGTGTCTTTGTACCTGTCTGTCTGCTAGATTATTAAGTGACACTGTGAGAAGCTACTGAGAGCAGCATGTGGGACATGCAGAAGGGCAAGAGGCAGGAGAGATGATTCATGTCGGAGGGGCAGGGGAGGACTGACGGAGAGGGTGATGTTTGGCTGAGTCATGAAGGCTAGTGGTATTTTTCCATGCAGAGAAGTGGGAGGAAAGGCATTCTGTGTGGAGGGCACACAGTGTGCAAGGGCAGAGAGGTGTGAGCGAGGGTGGTGAGCTCGGGGCCATGAGTAATGCAAGAGCATGGGGTGTGCAGGATGAGTGGCCAAAGGTGGGGCTAGGAAATAGTGGCTGAGGTCATTATGTGAAGGCTTTGTGCTACTGCTTCAGAGTTGTGGAACGTGATGTTGCAATCTGGGAAAGACGCTGATGGCAAGGGATAGCATCATCAGGTTGTGCTGCCATCCCTGAAAGGCCCAGGCTCAAAGGTTTTGGGTGAAGGAAGCCAGGAGGGTTAGAAAGGGAGGAAGATGCCAGGGCATCTGGTAAAATAAAGCATGTGTCAGGCTTGGAGTTGCATAAGGCAGGTGCCCTGAGCCCATTGATGCAACTTCCAGCTGCTTTGATGGAGCACAGGCTCATTTGGAGAATAGACCTTCTCTGGCCCTTGCCCACCCTGTTCACCTCCCAGGGCCCAGCTTCTCACCTGCTCGCCTTTGGTGTGGCTGGGGGAGGCATAGGCCTCTGGGTAGTGCTGCCGCTCAAATGGGCACTCGAGCGGCTCGAGGTGGTGCTGGCTGAAGGCATCCGTGCGAAGGTGCTTTCGGGGTCCGCTGCTGCTGCTCTGTGAGTCAATGCTTAGTCGGCAGCTATCCTGATCACCTGGTACCCCCCGGGAAGGAAGAAAGCTTTTAGGGGACCTATCTATTCATGCTCTAGGCCAAAGTAGAGGACTGACTCCAAGCTGACTCACTGTGGAGGGAGAAAAAGGGCCAGCCACGTGGGCCCAGGAGCCTTGGCCAACTGAGGGACAGGACATGTGACAGTCACATGCAGAGCCCCTACAAAGTCCCATATCATAAGTGGAAGGGTTTCTGTCCCCATCAAAGCCTGAGCAAACTGCTCTCGTGCACCGCCCGCTGCCCTCCTGTCCCAGCACTCACTGTCATCCATTTTCCTCTTGTCGCTGCCAGGCTGAGCGATGCCCAGGAGCCCATTGATGGAGTAGGTGGAGCCCAGGGAATCCGACTGGGGTGACTCCGGGGGAGTTACAGCTGAGCTGGGGACTGCAGTGGGGGAGAGGGAGAGGGTCAGGGGTGGGAGTGACACCCCTCACAGCCCTGGGTGACTCTGGGGTAGTTACAGTTGAGCTGGGGACTGCAGGGGCTGGGGGAGAGGGAGAGGAGCAAGGGGTGGGACACCCCTTACAGCCCTGGGGTGACTCTGGGGGGACTGCGGTGGTGGGAAGAGGGAGAGGGTCAGGGAGTGAGAGTGACACCCCTCACAGTCCCTGCTGACACTGTGCAGGAGGCAGCAAGCCGAACCATGGACTGAGCCCTGGAGGGGCTCAGGTCCTTCCTCCAGGGGGCCTCCTGGTGGGAGGGATTCTTGGAGTTAGAGCTGTCTCAAGTGTTTGCACCTCTCCATAGTTCAGTGAATCTGCCCTGGGAACAGGCCAGACTTCGTCGCAGTGGCACAACTCAGTCTACACATGGGTTTGTGAATGGTACTGTGCACAGCTATGTCTGTGTGGGTGTGTCTGTGTGTGCCTCTGTGTATATGTGGGTATGCTGAAGGGGAGGTGTACACGAGCATGTGTGTGTATCCAGGTCTCTCAGCACTCACTCAGCGTGTGTCCGGGACTCAGGGACTTGGTGGCCACGCAGCTGTCCATAGGGAGGTTGAATGGTTGCTGCACTTTGGTCCGGATGATTCTGTGATGAAGAGAAGAAAGGCCATGAGAGAGAAGAGGAGGAAAGAGAACTCATGGCTGCCCCAGACCCAGTCGCCTTTTTGACACCCCTTTTGGGTATCTCCAAGGCACTTGAAACTCAACTGTCCACAGTCAAGTCTGTGACCCTACTCCGCATGCCTAGTCCTCCTCAGTTGTCCGCATTTCATGATTGGTACCATCAGTCACTCAAGGCCAAAACAGAGATGGGGCTTAACCTCTGCTTCCCTCTCTTTCCTATCAAACCCATCATCAAGTTCTGTGTTTTGACCTTGTGAACCTTGCCAACGTTGACCCCTCTCTGCGTCTCTCCATCAGCACCTTAGTGCATGTCATCACCAGTGTTCCAGGGTCACTCAGTGGCCCACGCCCATCCCCTCTTGGCCCTTTCTAAGTGATTCTCCCTACTGCAGCCAGAGTGGACTTTCTGAAATGCAAGTTGGCTTAAAATCTGCCAAGGGTTTCCCATTGCTTTATGACCAAAGGCAAGAAGATATAACACAGCCCCCAGCCTCTGAAAGGTCACCTCTGCTGACATCTTCAACTTCAGCCTACCTTGTGCTCCCCTGCTCTTTATCTACTGGTTTTCTTTTCTTTCTTTCTTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTCCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCATGTTCAAGTGGTTTTCCTGCTTCAGTCTCCCAAGTAGCTAGGATTACAGGCACTCGCCACCACACCCAGTTAATTTTTGCATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACGCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATCTACTGGTTTTCTTTTGATCCTATTAGCCACAGGGCCTTTGCATAACTGTCTGAGCTCTTTTCACCTAGTTCTCTTATTGTTTTTTACTCAAGGGAAGACTTTCATGAACTTCATAAACCAAATAATCCTGTGCTACCTTGCATATCTTCATGTTCCTTTTCTTAGCAGGACTTACAGCTGCATTTTTACAATATTTTTTGTAGGTAGTTGATTAATATCTGTGTTCTCATTAGACTGTAAGCTCCGCAAAGATGGGCTTTGTGTGTCCCAGGGCCTAGCACAAAATGAATGAGTGAATTATGTGTGAATGAATTAATGAACAAGCGAGTGAGTAAGTAAATGATTGATTGAGGCAGTGAGTGAATCATTGAGGGACTAAACGAATGAATGCTTGAATGTGGGCTGGGTTAGGGGTCTGATGGCTTAGAAAAGGATCAATTCATGAAGATTCTTTTATTGAATGAAAGCAGATGTGGTGTTTGAGGAAGGAAACTGTAGATAGCACACTATGGCTGGGGGCCAGGGGGAGGGTGCCCCATAGCATGGGGCAAGGGAGGAGGCAGGGAGGTATGATATCTGCCTGGAGCCAGGTGTGCTCCCTGCCTGATTGTTCAGCATCAGGCCCCTTCCCGGCCTCTGCTCCACCCAAGCCAGGCCTTTCTTGTCTCTTTCCTGATTTCCCCAAAGCCCAGGGGCCCCAGCCTGACACCAGAGGCTGCTTTCTCTCTTACCTATTAATGGAGCTGACACTGGGCACAGTGTCATTGTCACAGACGCCCTCAGCCAGGAGCCGGTCTCGGATCTCCCAGGCAAACATGGTAGGGTTCTGGCGTTTGTAGTCCCCAATCTTCTCCACCACCTTGGGGGTGGCCACCTTGGGCTTGGAGCCCCCTATCACTCCAGGCCGGATGCTGCCAGTCTCGTAGTACCTACTCCAATAGAGAATCCCAAAGAATTACCCAATAAGCAGGTGGGGTCTTTAGACAGGGATTTAGCCAGAGCCTCCCTCCTCTCTGAGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTA
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TTCTCAACTCATTCATTTGTTCATTCATTCACTATACCATTACTGTCTATTATAAGGGGGGCACAATGGTAGGTGCTGGGAATAAAAACGATGTTTAACGTTTCATGAGGCTTCCCTGTCCTTAAGGAGTCCGCGTGTCTTTGTACCTGTCTGTCTGCTAGATTATTAAGTGACACTGTGAGAAGCTACTGAGAGCAGCATGTGGGACATGCAGAAGGGCAAGAGGCAGGAGAGATGATTCATGTCGGAGGGGCAGGGGAGGACTGACGGAGAGGGTGATGTTTGGCTGAGTCATGAAGGCTAGTGGTATTTTTCCATGCAGAGAAGTGGGAGGAAAGGCATTCTGTGTGGAGGGCACACAGTGTGCAAGGGCAGAGAGGTGTGAGCGAGGGTGGTGAGCTCGGGGCCATGAGTAATGCAAGAGCATGGGGTGTGCAGGATGAGTGGCCAAAGGTGGGGCTAGGAAATAGTGGCTGAGGTCATTATGTGAAGGCTTTGTGCTACTGCTTCAGAGTTGTGGAACGTGATGTTGCAATCTGGGAAAGACGCTGATGGCAAGGGATAGCATCATCAGGTTGTGCTGCCATCCCTGAAAGGCCCAGGCTCAAAGGTTTTGGGTGAAGGAAGCCAGGAGGGTTAGAAAGGGAGGAAGATGCCAGGGCATCTGGTAAAATAAAGCATGTGTCAGGCTTGGAGTTGCATAAGGCAGGTGCCCTGAGCCCATTGATGCAACTTCCAGCTGCTTTGATGGAGCACAGGCTCATTTGGAGAATAGACCTTCTCTGGCCCTTGCCCACCCTGTTCACCTCCCAGGGCCCAGCTTCTCACCTGCTCGCCTTTGGTGTGGCTGGGGGAGGCATAGGCCTCTGGGTAGTGCTGCCGCTCAAATGGGCACTCGAGCGGCTCGAGGTGGTGCTGGCTGAAGGCATCCGTGCGAAGGTGCTTTCGGGGTCCGCTGCTGCTGCTCTGTGAGTCAATGCTTAGTCGGCAGCTATCCTGATCACCTGGTACCCCCCGGGAAGGAAGAAAGCTTTTAGGGGACCTATCTATTCATGCTCTAGGCCAAAGTAGAGGACTGACTCCAAGCTGACTCACTGTGGAGGGAGAAAAAGGGCCAGCCACGTGGGCCCAGGAGCCTTGGCCAACTGAGGGACAGGACATGTGACAGTCACATGCAGAGCCCCTACAAAGTCCCATATCATAAGTGGAAGGGTTTCTGTCCCCATCAAAGCCTGAGCAAACTGCTCTCGTGCACCGCCCGCTGCCCTCCTGTCCCAGCACTCACTGTCATCCATTTTCCTCTTGTCGCTGCCAGGCTGAGCGATGCCCAGGAGCCCATTGATGGAGTAGGTGGAGCCCAGGGAATCCGACTGGGGTGACTCCGGGGGAGTTACAGCTGAGCTGGGGACTGCAGTGGGGGAGAGGGAGAGGGTCAGGGGTGGGAGTGACACCCCTCACAGCCCTGGGTGACTCTGGGGTAGTTACAGTTGAGCTGGGGACTGCAGGGGCTGGGGGAGAGGGAGAGGAGCAAGGGGTGGGACACCCCTTACAGCCCTGGGGTGACTCTGGGGGGACTGCGGTGGTGGGAAGAGGGAGAGGGTCAGGGAGTGAGAGTGACACCCCTCACAGTCCCTGCTGACACTGTGCAGGAGGCAGCAAGCCGAACCATGGACTGAGCCCTGGAGGGGCTCAGGTCCTTCCTCCAGGGGGCCTCCTGGTGGGAGGGATTCTTGGAGTTAGAGCTGTCTCAAGTGTTTGCACCTCTCCATAGTTCAGTGAATCTGCCCTGGGAACAGGCCAGACTTCGTCGCAGTGGCACAACTCAGTCTACACATGGGTTTGTGAATGGTACTGTGCACAGCTATGTCTGTGTGGGTGTGTCTGTGTGTGCCTCTGTGTATATGTGGGTATGCTGAAGGGGAGGTGTACACGAGCATGTGTGTGTATCCAGGTCTCTCAGCACTCACTCAGCGTGTGTCCGGGACTCAGGGACTTGGTGGCCACGCAGCTGTCCATAGGGAGGTTGAATGGTTGCTGCACTTTGGTCCAGATGATTCTGTGATGAAGAGAAGAAAGGCCATGAGAGAGAAGAGGAGGAAAGAGAACTCATGGCTGCCCCAGACCCAGTCGCCTTTTTGACACCCCTTTTGGGTATCTCCAAGGCACTTGAAACTCAACTGTCCACAGTCAAGTCTGTGACCCTACTCCGCATGCCTAGTCCTCCTCAGTTGTCCGCATTTCATGATTGGTACCATCAGTCACTCAAGGCCAAAACAGAGATGGGGCTTAACCTCTGCTTCCCTCTCTTTCCTATCAAACCCATCATCAAGTTCTGTGTTTTGACCTTGTGAACCTTGCCAACGTTGACCCCTCTCTGCGTCTCTCCATCAGCACCTTAGTGCATGTCATCACCAGTGTTCCAGGGTCACTCAGTGGCCCACGCCCATCCCCTCTTGGCCCTTTCTAAGTGATTCTCCCTACTGCAGCCAGAGTGGACTTTCTGAAATGCAAGTTGGCTTAAAATCTGCCAAGGGTTTCCCATTGCTTTATGACCAAAGGCAAGAAGATATAACACAGCCCCCAGCCTCTGAAAGGTCACCTCTGCTGACATCTTCAACTTCAGCCTACCTTGTGCTCCCCTGCTCTTTATCTACTGGTTTTCTTTTCTTTCTTTCTTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTCCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCATGTTCAAGTGGTTTTCCTGCTTCAGTCTCCCAAGTAGCTAGGATTACAGGCACTCGCCACCACACCCAGTTAATTTTTGCATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACGCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATCTACTGGTTTTCTTTTGATCCTATTAGCCACAGGGCCTTTGCATAACTGTCTGAGCTCTTTTCACCTAGTTCTCTTATTGTTTTTTACTCAAGGGAAGACTTTCATGAACTTCATAAACCAAATAATCCTGTGCTACCTTGCATATCTTCATGTTCCTTTTCTTAGCAGGACTTACAGCTGCATTTTTACAATATTTTTTGTAGGTAGTTGATTAATATCTGTGTTCTCATTAGACTGTAAGCTCCGCAAAGATGGGCTTTGTGTGTCCCAGGGCCTAGCACAAAATGAATGAGTGAATTATGTGTGAATGAATTAATGAACAAGCGAGTGAGTAAGTAAATGATTGATTGAGGCAGTGAGTGAATCATTGAGGGACTAAACGAATGAATGCTTGAATGTGGGCTGGGTTAGGGGTCTGATGGCTTAGAAAAGGATCAATTCATGAAGATTCTTTTATTGAATGAAAGCAGATGTGGTGTTTGAGGAAGGAAACTGTAGATAGCACACTATGGCTGGGGGCCAGGGGGAGGGTGCCCCATAGCATGGGGCAAGGGAGGAGGCAGGGAGGTATGATATCTGCCTGGAGCCAGGTGTGCTCCCTGCCTGATTGTTCAGCATCAGGCCCCTTCCCGGCCTCTGCTCCACCCAAGCCAGGCCTTTCTTGTCTCTTTCCTGATTTCCCCAAAGCCCAGGGGCCCCAGCCTGACACCAGAGGCTGCTTTCTCTCTTACCTATTAATGGAGCTGACACTGGGCACAGTGTCATTGTCACAGACGCCCTCAGCCAGGAGCCGGTCTCGGATCTCCCAGGCAAACATGGTAGGGTTCTGGCGTTTGTAGTCCCCAATCTTCTCCACCACCTTGGGGGTGGCCACCTTGGGCTTGGAGCCCCCTATCACTCCAGGCCGGATGCTGCCAGTCTCGTAGTACCTACTCCAATAGAGAATCCCAAAGAATTACCCAATAAGCAGGTGGGGTCTTTAGACAGGGATTTAGCCAGAGCCTCCCTCCTCTCTGAGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTA
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Task1_train_3977
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With a mutation on Chromosome 2 in gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
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AGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAA
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AGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCACGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAA
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Task1_train_3978
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A variant on Chromosome 2 in gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
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GGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCT
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GGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGTAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCT
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Task1_train_3979
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This alteration in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
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TGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTG
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TGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCCGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTG
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Task1_train_3980
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Here is a variant affecting PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
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GCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCC
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GCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAAAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCC
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Task1_train_3981
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A mutation on Chromosome 2 affecting PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
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ATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG
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ATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCGGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG
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Task1_train_3982
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This is a variant in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; Congenital hypothyroidism
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CTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTG
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CTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGTTGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTG
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Task1_train_3983
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This sequence variant lies in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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GTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGA
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GTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGTGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGA
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Task1_train_3984
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The gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Hypothyroidism, congenital, nongoitrous, 2
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TAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCGGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAG
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TAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTCAAACTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTCTGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACAGGTTTCACTCAGTTGGCCTGGCTGGTCTTGAGCCCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCCAGCCAATGACTGACTATTTTCTTTGGCCACCTAGAAAGCTAGCCGAGGTCACTGGACCCTCTGCTCTGTCTTGCTGGTTCACCTTTGCTCCCTGCCCTGTCCAAGCCTGAGGCATATCCCTCACCCCCCTGGTCACTGGTTTTCTATCAGGTTTTAGCAGGTTCAAGTTGAAGCTTCTCCTCATGGACTCTGGAATCCTGACCTTGCTTGGATCCCCAGCCAGGTCCAACTTGTTAAGCTGAGCCTCCTCTTCTGGGGCCTCCACCCTTCCCCTCCCTCTATCCTCCAACTAGTTGCTTTGGCAGATCAACCGCCTGTGTCAGCATATCCTCCTCTTCTTGTTGTAGAAACTCTCTGCTCTCATCTGCATGAAAAAGAATCTAGCTCTTTAAAACTCCATTCATCTGTTACTTCCATCCAGGACTCATCTCTTCTGGGACACCACAACCCATCACAGGAATCCCCTCTCCCTAGCCCAGCAAAGGATCATGCCTTTCCCTAACTACTTCAGGAGGGGAGCCAGGGCTTTTCACGGTTCAAAGAACAGTCCAGGTCCCTTTACCTTGTCCAACCAGGGCTCCTCCTAAATCCACCTAAGGGTCAGAGCAGGGGGACAGGCACACGTACACAGAGCTGACTGGAAGCTGTGGCACAGAGGCATTTTTAATGGAAGTGGCTTTGCAGACTGGAATCTGTGACTGCATCAGCTCAGAAGCAGGCCTTTGCTGCTCCTGGTCTCTTCTGAATCTTTGGGTCAGTGGTTCTCAACCCTGGCTGCAGAGAATTAGAGTCACTTGCTGGGGGCGGATGGGCTGGGGAGTTATATGCCAAAACTTGCGCCTATTTCCCTAAAGTTCGGATTTAATTGGTCTGCCCTGGGGCATAAACAGTATTGCTATTTAAAAATCAGGCTTCCCCTGGTGACTGTAATGTGCTACCAGGGCTATGAAGCACTGATCTGGGGTCTTGGGGAATTATGGTTTGAGAAGCACAAACTCAGATATCACTCTTTTAGGGGTTAGACCTTGGGAGCTCATCTGTGTGTCCCCTCCCTAGTGGCCTAATTTCCCTAGGTCTCGGTAGGAGGAGGACCTTGGGGGAAGATTCTCTTGCCTTAGCAGGAGAGAAGCCTATAGCTAATGAGACATGGAGCAAAAGAGAAGAAGGGAGAGGGAGAAACTAAAAGAAGGATAAATGGACAAAGAAAGAAGGAAGGGCAAGAAAACAGTAGAAAAATAGTGGCTGGGTAGAGGCCCAGAAGGACCACCATAACTGTTCAGGTCTCAGGACCAAAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATCAGCTGGAGAAGTCAAGCCCTGCGGGGAAGGCGGCCTGCGGTGAATTTCGTGCTTACCTGCCAAGGATCTTGCTGACGCAGCCATGGCTGACGCGGAGCTGGCGAGAGATGTCGCAGGGCCTTACACCCTGGTGGGCCAGGTCTACGATGCGCTGGCAGACCACTTCCGGCAGAGGTCTGCCATTCACAAAGGCCCCTCCCAGCTGGTTCAGCCCTCCATGGCCTAAGGAGACAATATTCCCAGGGACAGCTGTCAGGGTCAGGTAGGAGTTTGGGTGGGGATTAGCTATGAGTACAGGTGCTGGTGTGTGTGTGTGTGTTTGACTGTGACCATGAAATCCCACGGCCAGGCCCTGTGGGCCCCTCTGCACCCCTTCCCCAGTTCTCACTCCCAAGATGCTGGCACAAATGGTATGTGATGCTCATCCCCCACGATGGGATGGTGTCACAGGAGCACCTTGGGCTTGGGGACTCTTCAGGCAGACTCAGCCCTTCACTCCAAATCACAATCCCCTATTTTCTTCCCTCCCTCTGAAAAGTGTGTAAGGAATTGAGGATGTGGGGTCTTCCCATACCAATACTGAGCCGTTTGACCTTGGGGAAAACCCCTTCTCTTCTGAGAGTCTCTTTTCCTTTTGTAAAATGACGGCACAGGTGATTTTCACCTTTCTCCTTCTCCTCATGGAACCAGATTTTAAAACACTACCTCATTGAGAAAAAAAAATACAAAAGAATAAAAGCAGAAACTCTCTGGTAGAGCTTGGGCAGAGAAGGCCTGAGCTCTGTCTGTGGACTTCTGGCCTGAATGACCCCCAAGGTTCCTTCTTTCTCTAATAGGCCAGAGCAGCAGGGACCTGGTGCAGGGTCCTCACAGGCATAGATAGCACTGGGTTCCAGGACTGACACAGGGGCTACAGGCCACTGTGGGAATCTATCCACGTCATGGATGTGTGTACACGTTCCCTTAGCTGCTTTCCTGACTTGGCCTCTGCTCTCTGGCCCCAGCCTGTGTTTCATTCTGAGCCCATCTATCCAGTCAAATCCATTTGTATTGAGTGCTAACTATGTGCCACGCACTGCACAGGTCCCTGATGATGCCAAGGTGAATAAGGCAGACATGATCCCTATTCTTCCCTCATGGGGTTTATTACAGTGAGGTCCTAGACCAGCAAACAGCCAGTTAACATATTTTGTGACCACTTTTGGGACTGGTGACATGCAGAGAGTTATGGGAACCACTGGAGGGGAACTTGACTTGGCTCAAGGAAACACAGAAGGGTTCCTGAGGAGGTCTAAGCTGAGACTGAAGATAAACAGGTACTAGCCAAGTGAGGGAGAGAGGGGAGAAAACTGTTCCAGGCAGTGGGAACAGAATGTGCAAAGACTCAGAGGCAAGAGGATACTTGTCTGTTAGATTTTCCAACATATTCAACTCTATAGTACCTAGAGCCATACTGGGCTAATTTCAGGGCCGAGATTTCCATTTTTCTCATGAGGAGACTGGGGCTCAGAGAGTTTTAGTGCTCTGATTTATATGACTTGTCTAACTCAGCTTATATGAGGAGGAGCTGAGATCCATCCAGAATTTAAGGCTCAGATCAGGGCTGCTCCTTGAGGGGAGCCCTGTTCTGGGGCTAGAGCTATGCCTGGATGCTTGTCATTGGCTCTGCTGTTTTGTGCTGAACATGCCATGGTCTTTTTCACACCAAGGGCAGGATTTGGTGATATGACTGGGAAGGTAGAGCCCTGCAGTGTGGGAGTCAGGGAGCAGGCAGGTGAGAAGGAAGAGCCAACCCCAGCCTTCTGTGTGAACCAGTTAAAGACTGTTTATGGCCGAGGGTGGGAAGTGCCTTTGCTGGGCACACAGTGCCCATTATCACCCACTGACTTAGCACATTCAGAACTGCCTTGCAATGTCTCCTCAGGGGCCCAAGCTGTCTTCAGCAGAACACTCAATTTCCCTTTAATAAAGGGGGTGGGGGCCAGGTGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAAAAACTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAG
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Task1_train_3985
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This alteration in GLI2 (GLI family zinc finger 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Holoprosencephaly 9
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GATCTCAAACTTAATTTTTCAACTTGTACCACCTCTTTGGGGTAAACAAGCCCTAGATGGAGCAGGGACCGTGGAGCTGTGAGTTGCAGAACAAATCAGTTAGATGAAAGGAGGAGAGAGGGACAGTCTCTCAGGCCAGGGGAAGGCCAAAGCCAGAGCATGCAGATGAGGATGTCAAAGACGTGCTCTGTGATAAGTGGGTCAGCCCCAAAGAGCAGGCACGGAATTCCTCAGATGAATGCGGAGGGTCCCCAAACTGGGAGGAGGGCTTTAGCCAGGGGCTTCTGCCTGTGCCCTGGACTGTCCTGGAGCTATAGGTGGCCACCTCCACCAGGCCCTGGAAAAAGCAGACCCCTTCACCCAGCTCTGTCTGTCTGTCTCTCTCTGTTTCTCTCTGCTCCCTGGAAAGATGGATGGAGCAGGCGCACAGGCGAGCTGGAGCCCCTGGTCGATTATTAACAATTTGTTGCTAAGTAAACCAATAAGAAAAAAATGAAAGCCATTGTCAGGAAGCATTTTTATCATTTGAAAGGCTTTAAAAATGGAAAGTGAGGCTAATATGATAAGATTTCCCTGGAAGTTCAAAGCGCTGGAGATTTCACATGCTCCAGCAGGGGCATCTGTACGCGTGACAGTTGGGCGAGTCGCACAGGGCATGAGGGCCTGGCAGTTTTCTGTCTTCTGGGGCAAGGTGCTGCCAGTGCCTGATGCTTGGCTCTTGGGACAGCCTCTTTTGGTGGCAGAGTTCCACAGCAGAATGTCCAGCAGAACAATATTACAGGCCACAAATGCCAGCTATCCATGTAATTTACATTTCCTAGGAGTGCATTTAAAAGTAAAAAGAAACAGGTGAAGTTAATTTTAATATTTTTTATCCAGCCCAATATATCTGAAATATCATTTAGCAGGTAGTCAATAGAAAAGAAAGTTATTGAGATATTGTATATTCTTTTTTTTCCATTCTAAGTCTTTGAAACTGGTGTGTAGTTTGCACTTCTAGCCCATCCCAGCTCAGGCCAGCCACATTTCAAGTGTGCAAGAGCCCCACATGGGGCAAGTGGTCACTGCATTAGACAGTGTGGGTCTAGAGGTTGTGGGAGGGGGGCTGGGAGGAAGTGAAGACGGGGGAGGAAACTGAGAACAGAGGAGGAAGGGGAGGCCTCTAAGACCTGAGTGTCCTGGCCTCGCCACCAGGCTGGGGAAGTAAACCCAGCCTTACCCGAGATACGCGGCAGGGTTAGTCGTGCTGCGCTGGCTGTCCCAACTCACTTGCCTGGGGCCGTTTTCTCCCAGGATAAGCTTCACACAGTGCCCAGAGCCCACCATTAAGGTCAGTTCTGGCTCCACCACGCCGACTGCCAGGGCCCTGTGCAGGCCACTGAACTCTCTGTGCCTTTGTGGAAAGGGGACAAAGCCATTATCTCATGGGTCAATGCCAAAAATAGAGATAAGCATGTGTTATTTTTCTATTGAAACAAAATATGTTATTTACAAACCTCTGAAACAATAGGGGCAAGCTTAGGAGAGGCTTCTCATGCACCCACTACGGGCACGTTTGCCTCGCTGCGGTTAGTGCCTACTGTTTGCAGCCTGGGAGCGTCATCACACCAGAGCCCAGGCTGCGGTGCACAGGATGGCTTTGCCCAATATAGACGGTCACTTTGAGGACTGATTGGAAAATGCAGGGCAGATAAGCGGCACGCAGTAGGCCTTCATTTAAGGGCAGCTAGTGATGATTCATGAGGAGGCGTGGCCCGGCTCGTAGGGGTGGTCTTGTTGGGTCAGTGGTCTGCGTATAGTAGGTGGGATGGGCAATGAGGAGCACGGTCTGAACATAATAGGTGTGGTCAGCAGGGTGGATGGTCTGCACACAGGTCGGGGAGGGCTGGGGGGGTGCCGGTGCAGGTGGTCAGCTGACAGCAGGGGGTGGTCTGTGGGCCTCTGGCCCTGCTTACCCTCTTCTGGGCATGTCCCTCCGGCAGCACATCAACAACGAGCACATCCACGGGGAGAAGAAGGAGTTTGTGTGCCGCTGGCAGGCCTGCACGCGGGAGCAGAAGCCCTTCAAGGCGCAGTACATGCTGGTGGTGCACATGCGGCGACACACGGGCGAGAAGCCCCACAAGTGCACGGTGAGTGGCCTTCTCCCCACCCCCGCCGCAGCATCAAGACTGGCCTGTCAGCCAGGCCGGGGGGATCATGTTTGGAGGTGGCTGGCCACAGGCACACCTGGGTGGGGCAGACCACAGCAGGGGCTCTGGGACAGGAGCCTGTTCCCACCCTGCCTGTTTGGGTCCTGGAGGCCCCTCGCCTCGTGCCGTCCCAGACCTTGATGGACTTGCTCTCTGGGTGTGAGCATCTCGGTAAGCATGGCAAAAATGTGTGGGTGTGTCTGTGATTGTGAGTCCAAAGGCATATCTGCACCCTGCAGTTTGCTTGGCTGGGTGACGCTGGGAAGAGGGACAGCTCCATAGTGCTCTGCAGAGAAAAAAACATCATTGGTGATTCAGAGCTTGAGCAATGATGGGTTAAAATGGTTGAGGGTTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTTTGCTACCCAGGCAGCTCATTGCAGCCTCCACCTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCCACCAACCCAGCTAATTTTTGTATTCTTTTGTAGAGATGGGGTTTTGCCATGTTGCTCTTGAACTCCTGGGCTCAAGCAGTCTGCCTGCATCAGCCTCCCAAAGTGCTGGGATTCGTCTTGAGCCACAGCTCCCAGCTGAGTTATTTTTTTTTTAAGTGAGCTCAATGATAAGACCTTTTCTATGGTCTCCTTTAGAAGGTCAACAGGATTTATGACTATAGTTGGAGAGACTTATTTTTTTAACACACAGAAACTGCTGCCCCACAAATGCACACGTGGTTTCAGCTGTAGCTGAAACATCTGGGAACTCCTTTTTGTGAATTCTTGTTTCATAGATTCTGAGACATACATTTTGTTTTCACCTTAATATCTCTGAAGTCAGACTGTCTTAAAATCAGTGGTGTCCAGGATCCAATGAAATATGCTACCTTTGCTGGCAAGTCAGTTTTTTTATTGAGAAATAGCTGACATACCATAAAGTTCACCCTTTTCGGAAAATGTGCAATTTAGTTGTTTTTAGTACATTCACAGATTTGTACAACAATCACTACTAGTTAATTTCAGAACATTTTCATCACCCCAGAAAGATACCCTGTACTCATTAGCAGCCACTCCTAATTCTGTCCTTCCCACAGCCCCTCCTAATTCTGTCCTTCCCACAGCCCCTCCTAATTCTGTCCTTCCCACAGCCCTGGACAATTACTAATCTGCTTTCTGTCTGTATGGATTTGCCTGTTCTGGAAATTTCATAAAAACTGAAATCATACAATATGTGCATTTGTGTCTTGCTTCTTTCAGTTAACACGTTTGCAAGGTTCACCTGCGTTGTAGCATGCACGCGTACTTTCTTTCTTTTTGTGGCTGCATAATACTCCATTGTATGGATAGACCATGTTTTGTTTATGCATTCATCAGTTGATGGATATTTGCATTGTATTCACTTTGAGGCTATTATGAATAATGCTGCTATGAACATGTGCGTTCATGTTTTTATATGGACAGAACGTTTTCACTTCTCTTGGGTATGTGTAACTAGGAGTGGAATTGGTGAGTCGTATGGCAGTTGAGGAACTGCTAGTCTGTTTTCCAAAAACGCTGCTCCATTTTACCTTTCCACCCACAATGAATGAGGGTTCTGATTTCTCCAAATCCTCACCAACACTGGTTGTTACCTGTCTTTTTTATTCTAGCCATATCCTAGTGGGTATAAAGTAGTATTTTATTGTGTTTTTGATTAGCACTTCCCTAATTAGTGATTAATAATGTTAAACATCTTTTCAGGTGCTTATTGGCCATTTGCGTATCTTCTCTGGAGAACTGTCTACCCAAATATTGCCCATTTTGAAACCTGGTTGTCTTTTTGCTGTTAAATTGTAAGAATTTTTCATATATCTGGTTACTAGACCCTTGTCAGATAT
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GATCTCAAACTTAATTTTTCAACTTGTACCACCTCTTTGGGGTAAACAAGCCCTAGATGGAGCAGGGACCGTGGAGCTGTGAGTTGCAGAACAAATCAGTTAGATGAAAGGAGGAGAGAGGGACAGTCTCTCAGGCCAGGGGAAGGCCAAAGCCAGAGCATGCAGATGAGGATGTCAAAGACGTGCTCTGTGATAAGTGGGTCAGCCCCAAAGAGCAGGCACGGAATTCCTCAGATGAATGCGGAGGGTCCCCAAACTGGGAGGAGGGCTTTAGCCAGGGGCTTCTGCCTGTGCCCTGGACTGTCCTGGAGCTATAGGTGGCCACCTCCACCAGGCCCTGGAAAAAGCAGACCCCTTCACCCAGCTCTGTCTGTCTGTCTCTCTCTGTTTCTCTCTGCTCCCTGGAAAGATGGATGGAGCAGGCGCACAGGCGAGCTGGAGCCCCTGGTCGATTATTAACAATTTGTTGCTAAGTAAACCAATAAGAAAAAAATGAAAGCCATTGTCAGGAAGCATTTTTATCATTTGAAAGGCTTTAAAAATGGAAAGTGAGGCTAATATGATAAGATTTCCCTGGAAGTTCAAAGCGCTGGAGATTTCACATGCTCCAGCAGGGGCATCTGTACGCGTGACAGTTGGGCGAGTCGCACAGGGCATGAGGGCCTGGCAGTTTTCTGTCTTCTGGGGCAAGGTGCTGCCAGTGCCTGATGCTTGGCTCTTGGGACAGCCTCTTTTGGTGGCAGAGTTCCACAGCAGAATGTCCAGCAGAACAATATTACAGGCCACAAATGCCAGCTATCCATGTAATTTACATTTCCTAGGAGTGCATTTAAAAGTAAAAAGAAACAGGTGAAGTTAATTTTAATATTTTTTATCCAGCCCAATATATCTGAAATATCATTTAGCAGGTAGTCAATAGAAAAGAAAGTTATTGAGATATTGTATATTCTTTTTTTTCCATTCTAAGTCTTTGAAACTGGTGTGTAGTTTGCACTTCTAGCCCATCCCAGCTCAGGCCAGCCACATTTCAAGTGTGCAAGAGCCCCACATGGGGCAAGTGGTCACTGCATTAGACAGTGTGGGTCTAGAGGTTGTGGGAGGGGGGCTGGGAGGAAGTGAAGACGGGGGAGGAAACTGAGAACAGAGGAGGAAGGGGAGGCCTCTAAGACCTGAGTGTCCTGGCCTCGCCACCAGGCTGGGGAAGTAAACCCAGCCTTACCCGAGATACGCGGCAGGGTTAGTCGTGCTGCGCTGGCTGTCCCAACTCACTTGCCTGGGGCCGTTTTCTCCCAGGATAAGCTTCACACAGTGCCCAGAGCCCACCATTAAGGTCAGTTCTGGCTCCACCACGCCGACTGCCAGGGCCCTGTGCAGGCCACTGAACTCTCTGTGCCTTTGTGGAAAGGGGACAAAGCCATTATCTCATGGGTCAATGCCAAAAATAGAGATAAGCATGTGTTATTTTTCTATTGAAACAAAATATGTTATTTACAAACCTCTGAAACAATAGGGGCAAGCTTAGGAGAGGCTTCTCATGCACCCACTACGGGCACGTTTGCCTCGCTGCGGTTAGTGCCTACTGTTTGCAGCCTGGGAGCGTCATCACACCAGAGCCCAGGCTGCGGTGCACAGGATGGCTTTGCCCAATATAGACGGTCACTTTGAGGACTGATTGGAAAATGCAGGGCAGATAAGCGGCACGCAGTAGGCCTTCATTTAAGGGCAGCTAGTGATGATTCATGAGGAGGCGTGGCCCGGCTCGTAGGGGTGGTCTTGTTGGGTCAGTGGTCTGCGTATAGTAGGTGGGATGGGCAATGAGGAGCACGGTCTGAACATAATAGGTGTGGTCAGCAGGGTGGATGGTCTGCACACAGGTCGGGGAGGGCTGGGGGGGTGCCGGTGCAGGTGGTCAGCTGACAGCAGGGGGTGGTCTGTGGGCCTCTGGCCCTGCTTACCCTCTTCTGGGCATGTCCCTCCGGCAGCACATCAACAACGAGCACATCCACGGGGAGAAGAAGGAGTTTGTGTGCCGCTGGCAGGCCTGCACGGGGGAGCAGAAGCCCTTCAAGGCGCAGTACATGCTGGTGGTGCACATGCGGCGACACACGGGCGAGAAGCCCCACAAGTGCACGGTGAGTGGCCTTCTCCCCACCCCCGCCGCAGCATCAAGACTGGCCTGTCAGCCAGGCCGGGGGGATCATGTTTGGAGGTGGCTGGCCACAGGCACACCTGGGTGGGGCAGACCACAGCAGGGGCTCTGGGACAGGAGCCTGTTCCCACCCTGCCTGTTTGGGTCCTGGAGGCCCCTCGCCTCGTGCCGTCCCAGACCTTGATGGACTTGCTCTCTGGGTGTGAGCATCTCGGTAAGCATGGCAAAAATGTGTGGGTGTGTCTGTGATTGTGAGTCCAAAGGCATATCTGCACCCTGCAGTTTGCTTGGCTGGGTGACGCTGGGAAGAGGGACAGCTCCATAGTGCTCTGCAGAGAAAAAAACATCATTGGTGATTCAGAGCTTGAGCAATGATGGGTTAAAATGGTTGAGGGTTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTTTGCTACCCAGGCAGCTCATTGCAGCCTCCACCTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCCACCAACCCAGCTAATTTTTGTATTCTTTTGTAGAGATGGGGTTTTGCCATGTTGCTCTTGAACTCCTGGGCTCAAGCAGTCTGCCTGCATCAGCCTCCCAAAGTGCTGGGATTCGTCTTGAGCCACAGCTCCCAGCTGAGTTATTTTTTTTTTAAGTGAGCTCAATGATAAGACCTTTTCTATGGTCTCCTTTAGAAGGTCAACAGGATTTATGACTATAGTTGGAGAGACTTATTTTTTTAACACACAGAAACTGCTGCCCCACAAATGCACACGTGGTTTCAGCTGTAGCTGAAACATCTGGGAACTCCTTTTTGTGAATTCTTGTTTCATAGATTCTGAGACATACATTTTGTTTTCACCTTAATATCTCTGAAGTCAGACTGTCTTAAAATCAGTGGTGTCCAGGATCCAATGAAATATGCTACCTTTGCTGGCAAGTCAGTTTTTTTATTGAGAAATAGCTGACATACCATAAAGTTCACCCTTTTCGGAAAATGTGCAATTTAGTTGTTTTTAGTACATTCACAGATTTGTACAACAATCACTACTAGTTAATTTCAGAACATTTTCATCACCCCAGAAAGATACCCTGTACTCATTAGCAGCCACTCCTAATTCTGTCCTTCCCACAGCCCCTCCTAATTCTGTCCTTCCCACAGCCCCTCCTAATTCTGTCCTTCCCACAGCCCTGGACAATTACTAATCTGCTTTCTGTCTGTATGGATTTGCCTGTTCTGGAAATTTCATAAAAACTGAAATCATACAATATGTGCATTTGTGTCTTGCTTCTTTCAGTTAACACGTTTGCAAGGTTCACCTGCGTTGTAGCATGCACGCGTACTTTCTTTCTTTTTGTGGCTGCATAATACTCCATTGTATGGATAGACCATGTTTTGTTTATGCATTCATCAGTTGATGGATATTTGCATTGTATTCACTTTGAGGCTATTATGAATAATGCTGCTATGAACATGTGCGTTCATGTTTTTATATGGACAGAACGTTTTCACTTCTCTTGGGTATGTGTAACTAGGAGTGGAATTGGTGAGTCGTATGGCAGTTGAGGAACTGCTAGTCTGTTTTCCAAAAACGCTGCTCCATTTTACCTTTCCACCCACAATGAATGAGGGTTCTGATTTCTCCAAATCCTCACCAACACTGGTTGTTACCTGTCTTTTTTATTCTAGCCATATCCTAGTGGGTATAAAGTAGTATTTTATTGTGTTTTTGATTAGCACTTCCCTAATTAGTGATTAATAATGTTAAACATCTTTTCAGGTGCTTATTGGCCATTTGCGTATCTTCTCTGGAGAACTGTCTACCCAAATATTGCCCATTTTGAAACCTGGTTGTCTTTTTGCTGTTAAATTGTAAGAATTTTTCATATATCTGGTTACTAGACCCTTGTCAGATAT
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Task1_train_3986
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This variant impacts the gene BIN1 (bridging integrator 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Myopathy, centronuclear, 2
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GCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGGATTGCTTGAGTTGGGGAAGTCAAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCAGGGGAACGGAGAGAAACCCGTTCAAAAAAAAAAAAAAAATAGAAAAAGAAATTGGACAGCAAGCCATGCCAAGCCCACCCAGAGCTCTCCACGTCACAGGCACTCAATGAAGATGATGAAATCAAGAGGAGGCTCCGAAAAAATGGGGCAGCTGCCCAGAGAGAAACCCAACCTCCGGGGCCGGGCCCCTATCGCCAGCCTCTCGGGAATATGGAGAAGTGTGAGGGCCACATCCAGGCTGTGACTACACTGACCTGAAATGTGCCTCAGTTTCATTGGCGAGAAAACCACATGACCCACCTCTCACAGGGCACTGCATCCAGTGGTCCCTGGCCACACTGTAACCCATTTGGAGGGCAGGGGGCTGAGAAGACCATAGCCTCTATGGCCAGGATGGTGAGATGGCCCAGGAGTTTTGTAAAAAAGCCTCCTCCGGGAAGCCCCCCAGGAACACTGTGGTGCTGGTCACTTGCCCTCCATGAATCCCCAAAGGCCAAGGACCCATGCTTCCCCTCCACGTCTCAGCATCCCATCCAGACTGGAGGGTCCTCCCAGTAACTCCTCCAGAGTCACCACGGGGACCACAAGTCCGAGGAAAATGACGCAGGGGCTTCAGTCAGGAGAGCCCCAACCCTGCCCCTAACCGGCTCTGGGGCCCTGGGAGGAGGCTGTGATGTGCCTCTCTGGGCAGCTTTCTCTGCTCAGTAAATTCAAGATGATCTCAGAGTTGTCATGTGGCTTGAAGGACAGGCATGGCAGTACAGGGGCCTGATGATGTCGCCTCCCTCCCCAGAGGAGCCCTCACAGAGGACAATGGCTCAAAGGCATTCCTGGACCACTAGGATTTCAGAGGAGTCTCCAGGAATGACCACAGATGCAGCCACGGAGCGGGCATAGCTATGCCCCCACCCAGGTCACACAGAGCCCCTCAGCCGGTTCTTTGACCCCTACATTTGACTTCAGGTCTCCTCTGAAGCAGAGCTCTCCCAGCAGAGGCCTTTGAAAAACCCTGCCCCAGCTGGGCTCAGATGCCAGCCCTGCATTCCACCGCAGGGCGAGAGGACAGGACGACAGACCGGAAGGCGCCAGCACGTGCAAGGTTAGAAGCCAGTGTCACCTGATTTCGGAGCAGGTTAGTTTGAGCTACGAGATGAGCCTGCAGTTTGCCTTGGCACCACTGGGGGGCGGCTTTCTCAAGCAGCGAGACAGGCTGGGGTGGGGAGGTCAAGGCAAAGGAAGGTGGAGAGACCAGGGAGGTGGGGAGAGAGAAACAGAGACACACAGATTAAATGCAGGTCCACACGCCCCACGCGCGGGGGCCACCCCAAGCAGATATGGGCCCTTGAGGCCGAGAGAATTAGGGGGAGCCCGGGGGGTAAGGAAAGGGGGTGAACTCCAACTGCAGAGGCAAAAGGTGAGCGTGGTTAGCAGCACAGGGGGCCCAGCAAGCACGGCCCTGCCCGGAGGACGGGGCCACCCCAGCCCCTCACCAAAGGATGAGTGGGGCCAGCTCTGCACCTACTGGCTCGCTCCAGCCAGGGACAGGTCGCCTGGGATCGCGTGACGAATTCCACCCGGCTCGCCAGGCAGGGCGGCGCCGTTCCAGGGAAACCCAGGAGGCCCATTCTCAGGCTGGCAGGTGGCCTGGATCAGGGCTGAGGGGCCAGGGTGGCACGGGGGGCAGGAATGGGCCTAGGGTGGACCTCACCCAGGCACCCACAAGGGCCTCTCACTCACCGGCCTGGGCCCTGTATCGTCCCCACCCCCAGTTCAGCCACCTGGGGCCAGGCAGGAGGAAGCCTCCACCCTCGGGGTCCTAGACACCCGCCCTCTCTCAGCCCCCTGCAGACGCTGCCCCGACCCGCCTCCAGCCCTTACCTTGGCAATTTTGGCTTCATCCTTCTTTTTGGCAGTTTGAAGGGACTCGTAGTGGTGCCGGGCACTGTCGTAGTCCACCAGCTTGCGCCCCCGCTTGGCAATGCGTGACTGGGGCAGACAGAGGAGGGCACTAAGCGGGGCCTGGCACCCCTGCTGAGACTCCAGGTCCAGTGGATCCTGGAGGGACCCGCAGGGCGGGCAGGAGACCCCAGCTCCACAGGAACCCTTGAGCCCTTGTTGCTGGAACCCTCCTCGTGGCAGAGAGCTCACCCCCTCCTGGCCGTCCAGCCCCACTGTGTGAAACCACTTCCTTGCACATGAGCCCATGTGTCCGTGTCCACCAGCTGGTGACGTGTCAGCCAAGTCTTTTCCTTGGCCTGGCCCCTGGCTTCTCATCTCCACAGCCACCAACATCAGACTCAGGGAGCTTGAGGCATCTGCACTGGGGACCCCTGAGGCTAGCATGAGCATGACACCCCCATCCTGCCCACCAAGGGGATCTCGTCCAACCCAATGGTCAACCCAGGCTTCCATGTGCACGTTACCGGGGACCACTCGCCTCGGTGGATACCAGAGACACTGCCAGCTCCGAGCACCAACCCAGGCCTGGCAGAGACAGCAGGCTTTGCGAATGCACACAACCACACGCACACACCCACACATGTAGACCCAGACAACAGGTGACATGCACACATACCCTTCCAAGCACCCATGGTGTAAACACAGGGGACCTGCAGGCACACACATGTGTAGGCCCTACTCACCCTTCTACACCTTCCACAATCATATAGCCAGCCACTCCGCAGCAACACACACACACACACACACACACACACACACACGTGCCGTGAGGCTTCCTCCCATAGCCCTGAGACCCAAAGGGACAGGAAAGGAATGGGGGGCCGTGGGCTGGTGGCAGAGGGAGCAACCCCGGAGGGGTGAAACACCGGGCCAGGCGCTTCCTGCCTCCAGGACAGCCTCCTCCTGGCCTGAGCCGCACGTCCTAGGCCCTGTCCTCTCTCCAGTTCCCTCCAGGCCAGAGCAGGGCAGATCTGCAAGTGGGTCTCTCACCTTGATGTCGGGGAACTGGCCCAGGTACGTGTCCATGGTCAGCAGCGCCTGGTCCACCAGCTTCTGGTGGTAATCCATCCACAGCAGGTCGTTGTTCTGAGACAGGCAAGAGCACGACAGTGCCACCAGGAGGGCTGGGCCACACCCGCCCCAGCGCTCACCTCGCAGGGACCAGCCCCAGCCCCATCTCTTCACAGCTCAGTGGCTTCTCAGAGCCTCAGTTTCCCCATCTGTAAGATGGGGGCAAATGTTCCTGCCCTATTGGGGTGACTGTGAGGATCAGATACGCTGAGGACTGGGGTCAGCCAGGGAGGCTTTGTGAGTTGTGAGCCATAACACACAAATAAGGACGACCACGACCCACCATCTGACCCACCTTGGTGTGAGGGCGTGTCAGGAGAAAGGCCCTCAGAGAGGGAGGGCAGCTTGCCCCAGGGCACACAGCACGCGAATGCCCGAGAACCAGAGAGGCTTGTCCCAGAGGGCACGGCAGAGTGGGACAGGAGCTGAGACCAGAGGGCCCTCTGAGAAGGGCAGGCCCACCTGTCCCATGCTCACCTCTGCGATCTTGTTTGCCTCATCCCTGCCGGGCCAATCGGGCTCATACACCTCCTGCAGACACTCATTCAGCTTCTTGGAAGCCTCGTGCATGGCTGTGGGGCAGAAAGGAAGTATGTGGGCCTCCCACTGATAGCGCTTGTCCCACCCTCCCCAGCTCTGCACCCACCAGCTCTACACGGGCCAGGTGCGCTCTGCCTGCCTCCTACCTTTGACGGAGGCCAGGTAGGTCCGGAGATCCTTCTGCAGCCGGGTGCCCTCCGTCTGCAAAGAGAAGGACAAGGACCAGGTCAGGGACTGGTGGCACACCCAGTCCCTGACCCTCTCCTTCCTGCCACCCTCACGTGAATGAACCAGGCTGCTCTCCTGACAGCAGCCACTGATCAGCTGACCTCCCAACAGGACAGCAGCTACGGTCACCACCCCTGCCTCAGAAGCCCTGCGTCCATAGGCACCCTTGCCCATGCTTGTGGGCACCTGCCATCTT
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GCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGGATTGCTTGAGTTGGGGAAGTCAAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCAGGGGAACGGAGAGAAACCCGTTCAAAAAAAAAAAAAAAATAGAAAAAGAAATTGGACAGCAAGCCATGCCAAGCCCACCCAGAGCTCTCCACGTCACAGGCACTCAATGAAGATGATGAAATCAAGAGGAGGCTCCGAAAAAATGGGGCAGCTGCCCAGAGAGAAACCCAACCTCCGGGGCCGGGCCCCTATCGCCAGCCTCTCGGGAATATGGAGAAGTGTGAGGGCCACATCCAGGCTGTGACTACACTGACCTGAAATGTGCCTCAGTTTCATTGGCGAGAAAACCACATGACCCACCTCTCACAGGGCACTGCATCCAGTGGTCCCTGGCCACACTGTAACCCATTTGGAGGGCAGGGGGCTGAGAAGACCATAGCCTCTATGGCCAGGATGGTGAGATGGCCCAGGAGTTTTGTAAAAAAGCCTCCTCCGGGAAGCCCCCCAGGAACACTGTGGTGCTGGTCACTTGCCCTCCATGAATCCCCAAAGGCCAAGGACCCATGCTTCCCCTCCACGTCTCAGCATCCCATCCAGACTGGAGGGTCCTCCCAGTAACTCCTCCAGAGTCACCACGGGGACCACAAGTCCGAGGAAAATGACGCAGGGGCTTCAGTCAGGAGAGCCCCAACCCTGCCCCTAACCGGCTCTGGGGCCCTGGGAGGAGGCTGTGATGTGCCTCTCTGGGCAGCTTTCTCTGCTCAGTAAATTCAAGATGATCTCAGAGTTGTCATGTGGCTTGAAGGACAGGCATGGCAGTACAGGGGCCTGATGATGTCGCCTCCCTCCCCAGAGGAGCCCTCACAGAGGACAATGGCTCAAAGGCATTCCTGGACCACTAGGATTTCAGAGGAGTCTCCAGGAATGACCACAGATGCAGCCACGGAGCGGGCATAGCTATGCCCCCACCCAGGTCACACAGAGCCCCTCAGCCGGTTCTTTGACCCCTACATTTGACTTCAGGTCTCCTCTGAAGCAGAGCTCTCCCAGCAGAGGCCTTTGAAAAACCCTGCCCCAGCTGGGCTCAGATGCCAGCCCTGCATTCCACCGCAGGGCGAGAGGACAGGACGACAGACCGGAAGGCGCCAGCACGTGCAAGGTTAGAAGCCAGTGTCACCTGATTTCGGAGCAGGTTAGTTTGAGCTACGAGATGAGCCTGCAGTTTGCCTTGGCACCACTGGGGGGCGGCTTTCTCAAGCAGCGAGACAGGCTGGGGTGGGGAGGTCAAGGCAAAGGAAGGTGGAGAGACCAGGGAGGTGGGGAGAGAGAAACAGAGACACACAGATTAAATGCAGGTCCACACGCCCCACGCGCGGGGGCCACCCCAAGCAGATATGGGCCCTTGAGGCCGAGAGAATTAGGGGGAGCCCGGGGGGTAAGGAAAGGGGGTGAACTCCAACTGCAGAGGCAAAAGGTGAGCGTGGTTAGCAGCACAGGGGGCCCAGCAAGCACGGCCCTGCCCGGAGGACGGGGCCACCCCAGCCCCTCACCAAAGGATGAGTGGGGCCAGCTCTGCACCTACTGGCTCGCTCCAGCCAGGGACAGGTCGCCTGGGATCGCGTGACGAATTCCACCCGGCTCGCCAGGCAGGGCGGCGCCGTTCCAGGGAAACCCAGGAGGCCCATTCTCAGGCTGGCAGGTGGCCTGGATCAGGGCTGAGGGGCCAGGGTGGCACGGGGGGCAGGAATGGGCCTAGGGTGGACCTCACCCAGGCACCCACAAGGGCCTCTCACTCACCGGCCTGGGCCCTGTATCGTCCCCACCCCCAGTTCAGCCACCTGGGGCCAGGCAGGAGGAAGCCTCCACCCTCGGGGTCCTAGACACCCGCCCTCTCTCAGCCCCCTGCAGACGCTGCCCCGACCCGCCTCCAGCCCTTACCTTGGCAATTTTGGCTTCATCCTTCTTTTTGGCAGTTTGAAGGGACTCGTAGTGGTGCCGGGCACTGTTGTAGTCCACCAGCTTGCGCCCCCGCTTGGCAATGCGTGACTGGGGCAGACAGAGGAGGGCACTAAGCGGGGCCTGGCACCCCTGCTGAGACTCCAGGTCCAGTGGATCCTGGAGGGACCCGCAGGGCGGGCAGGAGACCCCAGCTCCACAGGAACCCTTGAGCCCTTGTTGCTGGAACCCTCCTCGTGGCAGAGAGCTCACCCCCTCCTGGCCGTCCAGCCCCACTGTGTGAAACCACTTCCTTGCACATGAGCCCATGTGTCCGTGTCCACCAGCTGGTGACGTGTCAGCCAAGTCTTTTCCTTGGCCTGGCCCCTGGCTTCTCATCTCCACAGCCACCAACATCAGACTCAGGGAGCTTGAGGCATCTGCACTGGGGACCCCTGAGGCTAGCATGAGCATGACACCCCCATCCTGCCCACCAAGGGGATCTCGTCCAACCCAATGGTCAACCCAGGCTTCCATGTGCACGTTACCGGGGACCACTCGCCTCGGTGGATACCAGAGACACTGCCAGCTCCGAGCACCAACCCAGGCCTGGCAGAGACAGCAGGCTTTGCGAATGCACACAACCACACGCACACACCCACACATGTAGACCCAGACAACAGGTGACATGCACACATACCCTTCCAAGCACCCATGGTGTAAACACAGGGGACCTGCAGGCACACACATGTGTAGGCCCTACTCACCCTTCTACACCTTCCACAATCATATAGCCAGCCACTCCGCAGCAACACACACACACACACACACACACACACACACACGTGCCGTGAGGCTTCCTCCCATAGCCCTGAGACCCAAAGGGACAGGAAAGGAATGGGGGGCCGTGGGCTGGTGGCAGAGGGAGCAACCCCGGAGGGGTGAAACACCGGGCCAGGCGCTTCCTGCCTCCAGGACAGCCTCCTCCTGGCCTGAGCCGCACGTCCTAGGCCCTGTCCTCTCTCCAGTTCCCTCCAGGCCAGAGCAGGGCAGATCTGCAAGTGGGTCTCTCACCTTGATGTCGGGGAACTGGCCCAGGTACGTGTCCATGGTCAGCAGCGCCTGGTCCACCAGCTTCTGGTGGTAATCCATCCACAGCAGGTCGTTGTTCTGAGACAGGCAAGAGCACGACAGTGCCACCAGGAGGGCTGGGCCACACCCGCCCCAGCGCTCACCTCGCAGGGACCAGCCCCAGCCCCATCTCTTCACAGCTCAGTGGCTTCTCAGAGCCTCAGTTTCCCCATCTGTAAGATGGGGGCAAATGTTCCTGCCCTATTGGGGTGACTGTGAGGATCAGATACGCTGAGGACTGGGGTCAGCCAGGGAGGCTTTGTGAGTTGTGAGCCATAACACACAAATAAGGACGACCACGACCCACCATCTGACCCACCTTGGTGTGAGGGCGTGTCAGGAGAAAGGCCCTCAGAGAGGGAGGGCAGCTTGCCCCAGGGCACACAGCACGCGAATGCCCGAGAACCAGAGAGGCTTGTCCCAGAGGGCACGGCAGAGTGGGACAGGAGCTGAGACCAGAGGGCCCTCTGAGAAGGGCAGGCCCACCTGTCCCATGCTCACCTCTGCGATCTTGTTTGCCTCATCCCTGCCGGGCCAATCGGGCTCATACACCTCCTGCAGACACTCATTCAGCTTCTTGGAAGCCTCGTGCATGGCTGTGGGGCAGAAAGGAAGTATGTGGGCCTCCCACTGATAGCGCTTGTCCCACCCTCCCCAGCTCTGCACCCACCAGCTCTACACGGGCCAGGTGCGCTCTGCCTGCCTCCTACCTTTGACGGAGGCCAGGTAGGTCCGGAGATCCTTCTGCAGCCGGGTGCCCTCCGTCTGCAAAGAGAAGGACAAGGACCAGGTCAGGGACTGGTGGCACACCCAGTCCCTGACCCTCTCCTTCCTGCCACCCTCACGTGAATGAACCAGGCTGCTCTCCTGACAGCAGCCACTGATCAGCTGACCTCCCAACAGGACAGCAGCTACGGTCACCACCCCTGCCTCAGAAGCCCTGCGTCCATAGGCACCCTTGCCCATGCTTGTGGGCACCTGCCATCTT
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Task1_train_3987
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Given a variant located on Chromosome 2 and affecting BIN1 (bridging integrator 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Myopathy, centronuclear, 2
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GGCCACACAGAGTCTCAGCTCCCAACTGTGCTTCCCTCACTCTGCCAAAGCTCAGCCTGTTTTTTGTTTGTTTGTTTGTTTTGAGACCGGAGTCTTGCTCTGTAGCCCAGGCTGGAGTCCAGTGGCATGATCTCGGCCCACCGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTTCTGCCCCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCTACAGTGCCCGGCCAGCTCAGCCTGTTCTAAGGGGCCCCCACCACCTCCACCCCTAACCTGTCTCCCCAGCCTAGCCAGCTGCCCTCAGGACAAGGGATCAGCTCCAGAGAGGAAACTCGATAGTGAACCAAAGGCCACAGAGCCTGGATTTCAATCCCCAACACCCACACCAGCTACATAGCCTTGGAAGATGTGCTTAACTTCTCTGAGCCTCAAGTGCCTCATCTGCAAAATGAGAATATCAGCCCCATCTCAAGGATTGCATAGATCTCTGTCAAACACAGCAGCTCTGGCCCATGGCCACAGCAACTCCCTAAAGGTCCTTCAGAGCAACCCACAGCCTGATGAAGCCAGCTGAGTAGGGACATGCCCTGGGGCTTCCCAGAGATGGAATCAGAACCTAAGACCAGGTTTCTTGTTCAAGCCTCTATTCTGCAGGTGAGGAAACTGAGGCCCAAGAAGCTCTGGGAAGGAATTGCCCAGAGCCACAGAGGCAGTAGATATCCCTGCCACAGGGTCTACCTGGGCCTTGAAACTCCTCCCATAACTGGCCTAAAGGACAATCAGCTAAGGGGGCTCCCCAATCCCTGTCCAGGGAAGCCTGTCAGGCTGAGCCCCTCTGGCAAGCCAAGGCCAACTTGGCCCTGGGGCCTCTCCCCTCTGCTCCCAGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCTCCCAGCCCTCTCCCAGAATGCTCCCCGGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCCCCCCACCACCCTCTCCCAGAATGCTCCCGGCCCTCCCAGCTGCCCCCCCCACCGCCCTCTCCCAGAATGCTCCCCGGCCCTCTCCCAGAATGCTCCCAGTTGTTCCCTGGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCCCCCAACCGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGTTGCTCCTGGTCCTGTCCCAGAATGCTCCCAGCTCTCCCAGCTGCTCCCCAGCCCTCTCCCAAATGCTCCCGGCCCTCTCCCAGCTACTCCCGGCCCTCGCAGCTGCTCCCAGTCCTCTCCCAGCTACTCCCAGGCCCTCCCAGCTGCTCCCCAGCCCTCCCAGCTGCCCTCAGCCCTCTCTCAAATGCTCCCAGGCCAATTGGAGATGGCTGCGGATGCCTCCCCACAGCCCAGCCTTGAGCCTGCCACACAGCCAGGCACACACCATGCTCAGCAGATGCCCAAATCAAACCCAGCCTGCTCCGCCCCCATGCTAACCGCTGCAGATGCCACTCTCCTGGCAAGAAGCTTCTATAGCTCCCACTTGCCCCTGACATGCAAAGTTTCCCCAAGTCTGGCCACAATCTATTGCCTGCTCCTATCCCACCCTCCCCCTCCCCCTCCCCCAACTACCGTTTCTATGTCTCCTACCAAGAACCTAAAGCATACATACCCCATCCCTCTTCCTTCCCAGCATGCATTGCCAGTGCTCCCTCCTCTAGGAAGTCTTACATGATCTTGTCAGCCCACACTGATTACCCTCCTCCAAGCTCTCGTACTCCACAAATTCAGCTCGTGCCATTTTTCACCTGGCAGCCGAATTTTCACAAACTCCCTAAGGCCAAGGGCCACCCACACTCACCAGCTGCTTGTTGAAATTCTGGACGCACTGCTCAAACTGCTCATCCTTGGTCTCATCTGCCTTCCCCAGCTTCTGGAGAACCTGCCGAAGCCAAGAGAGAAGGGGAGAGTGTTACCTTGGAAAGGAGAGTGGTCAAACCAAGAGTGCTCAGTCACCAACAGCACAGACCAGGGGCTGGGAAGTCTCTAGCCAACATCACCCAGCCCAGGGTGCCCACCCAGGGCTGCAATCCCAGGGCATGGCTGGGTCCATCAGGTTTTCAGGCCTCCCCACCCTCTACCCAGGGCTCGACAATAGGCCAAAAATGGAGCTTAGGACAGGCTTGACGTAGTGACCACAGCCAGGAGGAGGGAGGCTTCAAAGATGGCAAGAAGGATCGGGCACCCTCCTAGCTGATCTCACACTGCACCCCTGGGTGCTCCGCCCCCACCCTGGAAGCTGAAAAGTGAGCCACGCAGGGGAGGGGCCAAGCAGGAGCAGCCTCACTTCTCCGCATGACTCTATTCCCTGGGCCCAGGCCCATGAATGCCACAGGCAACAGCAGAGCAGGCCCTGAACCGGCAGGAGCCATCCCGGAACAAGGAGGGCAGCGAGCGGTGGCCAGGAGCTGCCGGGGGCCACGCAGAGTCTGCTTCTGATCTGACTGGGTTTTTAGATGTGACCTGCCCCAGGCACTCTGCTCTGCACAGCCCACACACACACACACACACACAAAACACACAAGGGCACACACATGAGCTCACAGCTCTGCTCCCAACCATGAGTCTCAGAGGTGGACTCCCCCTCAACCCCCCACGATGAGTGGCAGGGGGAGATGAAGGATGGGTGGGCAAGGGCAGAGAAGAGGAGCCACACCAGGAGAGGGGAAAGCTCTAGGAAAGGAGGGCGCTGGCCAGGACCCTGAGAACATATGCTGACCATCACGCTCTCCCAGACTTCCCTCTCTGGGCCCTGCTCCTCCAATCCCAGAGCTCCACATGACGGAGAGAGAGGTGGGAGCAGGGAGACAAAATACAGAGGCAAGGAGCGGTGGTGGGGCACGGTAGGAAAGAGCAGGAGAAGAAAAAGACAAAGAGCTGGGGCACAGAAAAGGGATGAGGAGTGCCAGATGGGTTTGCAGGAGAGCAGAGGGGAAGACCAGGGTGGCGGCGGGACACACCCGTCTGCAGCCAAAGAGGCACCTCCATCAGGGCGGCAGAAAGGCCAACACTGATGTCTCAGCAGAGGCCTCTCCCAGGCAGTGGGCAAGACCTCACAAGAATGAGAAGGAAACGGGGGTAGGGGATGGGAGTGGAAAGCAAAGGGAGAAAAAGGTGGGCCCAGGAGCGGTGGGGAGCCCCAGGAGCAAAGGGCCAGCCCAGCATCTGCTGAGGCCAGTAGGTCTGCAGACATCCCTCCCTTCCAAGACCCGGAGCCAGCCCATGCTGCCAGGAACATCAGCTTTGGGGCCCAGGGCCCAGGCCACGGTCCTGGACCAACGGATGCCTGGTACCAGGACACAGCCAGGACCCTTCCCACCCTGCCGGCCCTTGCAGGTCCTGTGCTGCCCTGCTGCACTTCCCCCCCCAGCCAGGCCCAGAAGCCTTGGCAAGGCCAGCTGCTCTTGGCCATCTCTCACCAAGCACTTGCTCTGTGCCTGGCCTTGGGCACCTTGGCCGGTACAGCAGAGAGGAATCAGATGTGGGTCTCTGTCCTGACATGGGGGAACACTTAAGGCTGTGGGACCCTGGGGGTAGAGATCTCTTCTAGCCTGGGCAGTCAGTGAGACTTCCTGGAGTGGGTGGCAGCTCAGACAGAGGGGAGAGGTTGCAACAAAGGTAAGGAGACCAGAAAGATGGAGCATCTTACTGGGGAGTTTTGAATTGCTCAAGGTGACTAGAGGTCACAGAGGATGGAGTGGGAAAGTGAGAGTGGCAGCAGGGGGCAGGTGGGCACCGGGAGGCAGCCACCGATGATGTTGTGCTACAGCGGTCGGGACACAGCCCCTTGGGCAACTGCAGCTGGATGCCAAGGGCTGACACAGGGATGAGAGAAAAACCAAAACAAAACCCCCACATGAGCAAGAAAATGTACACTGCACAACTTGCAGGCTCCCCACTGCTGCCCCT
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GGCCACACAGAGTCTCAGCTCCCAACTGTGCTTCCCTCACTCTGCCAAAGCTCAGCCTGTTTTTTGTTTGTTTGTTTGTTTTGAGACCGGAGTCTTGCTCTGTAGCCCAGGCTGGAGTCCAGTGGCATGATCTCGGCCCACCGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTTCTGCCCCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCTACAGTGCCCGGCCAGCTCAGCCTGTTCTAAGGGGCCCCCACCACCTCCACCCCTAACCTGTCTCCCCAGCCTAGCCAGCTGCCCTCAGGACAAGGGATCAGCTCCAGAGAGGAAACTCGATAGTGAACCAAAGGCCACAGAGCCTGGATTTCAATCCCCAACACCCACACCAGCTACATAGCCTTGGAAGATGTGCTTAACTTCTCTGAGCCTCAAGTGCCTCATCTGCAAAATGAGAATATCAGCCCCATCTCAAGGATTGCATAGATCTCTGTCAAACACAGCAGCTCTGGCCCATGGCCACAGCAACTCCCTAAAGGTCCTTCAGAGCAACCCACAGCCTGATGAAGCCAGCTGAGTAGGGACATGCCCTGGGGCTTCCCAGAGATGGAATCAGAACCTAAGACCAGGTTTCTTGTTCAAGCCTCTATTCTGCAGGTGAGGAAACTGAGGCCCAAGAAGCTCTGGGAAGGAATTGCCCAGAGCCACAGAGGCAGTAGATATCCCTGCCACAGGGTCTACCTGGGCCTTGAAACTCCTCCCATAACTGGCCTAAAGGACAATCAGCTAAGGGGGCTCCCCAATCCCTGTCCAGGGAAGCCTGTCAGGCTGAGCCCCTCTGGCAAGCCAAGGCCAACTTGGCCCTGGGGCCTCTCCCCTCTGCTCCCAGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCTCCCAGCCCTCTCCCAGAATGCTCCCCGGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCCCCCCACCACCCTCTCCCAGAATGCTCCCGGCCCTCCCAGCTGCCCCCCCCACCGCCCTCTCCCAGAATGCTCCCCGGCCCTCTCCCAGAATGCTCCCAGTTGTTCCCTGGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGCTGCCCCCAACCGCCCTCTCCCAGAATGCTCCCAGCCCTCCCAGTTGCTCCTGGTCCTGTCCCAGAATGCTCCCAGCTCTCCCAGCTGCTCCCCAGCCCTCTCCCAAATGCTCCCGGCCCTCTCCCAGCTACTCCCGGCCCTCGCAGCTGCTCCCAGTCCTCTCCCAGCTACTCCCAGGCCCTCCCAGCTGCTCCCCAGCCCTCCCAGCTGCCCTCAGCCCTCTCTCAAATGCTCCCAGGCCAATTGGAGATGGCTGCGGATGCCTCCCCACAGCCCAGCCTTGAGCCTGCCACACAGCCAGGCACACACCATGCTCAGCAGATGCCCAAATCAAACCCAGCCTGCTCCGCCCCCATGCTAACCGCTGCAGATGCCACTCTCCTGGCAAGAAGCTTCTATAGCTCCCACTTGCCCCTGACATGCAAAGTTTCCCCAAGTCTGGCCACAATCTATTGCCTGCTCCTATCCCACCCTCCCCCTCCCCCTCCCCCAACTACCGTTTCTATGTCTCCTACCAAGAACCTAAAGCATACATACCCCATCCCTCTTCCTTCCCAGCATGCATTGCCAGTGCTCCCTCCTCTAGGAAGTCTTACATGATCTTGTCAGCCCACACTGATTACCCTCCTCCAAGCTCTCGTACTCCACAAATTCAGCTCGTGCCATTTTTCACCTGGCAGCCGAATTTTCACAAACTCCCTAAGGCCAAGGGCCACCCACACTCACCAGCTGCTTGTTGAAATTCTGGACGCACTGCTCAAACTGCTCATCCTTGGTCTCATCTGCATTCCCCAGCTTCTGGAGAACCTGCCGAAGCCAAGAGAGAAGGGGAGAGTGTTACCTTGGAAAGGAGAGTGGTCAAACCAAGAGTGCTCAGTCACCAACAGCACAGACCAGGGGCTGGGAAGTCTCTAGCCAACATCACCCAGCCCAGGGTGCCCACCCAGGGCTGCAATCCCAGGGCATGGCTGGGTCCATCAGGTTTTCAGGCCTCCCCACCCTCTACCCAGGGCTCGACAATAGGCCAAAAATGGAGCTTAGGACAGGCTTGACGTAGTGACCACAGCCAGGAGGAGGGAGGCTTCAAAGATGGCAAGAAGGATCGGGCACCCTCCTAGCTGATCTCACACTGCACCCCTGGGTGCTCCGCCCCCACCCTGGAAGCTGAAAAGTGAGCCACGCAGGGGAGGGGCCAAGCAGGAGCAGCCTCACTTCTCCGCATGACTCTATTCCCTGGGCCCAGGCCCATGAATGCCACAGGCAACAGCAGAGCAGGCCCTGAACCGGCAGGAGCCATCCCGGAACAAGGAGGGCAGCGAGCGGTGGCCAGGAGCTGCCGGGGGCCACGCAGAGTCTGCTTCTGATCTGACTGGGTTTTTAGATGTGACCTGCCCCAGGCACTCTGCTCTGCACAGCCCACACACACACACACACACACAAAACACACAAGGGCACACACATGAGCTCACAGCTCTGCTCCCAACCATGAGTCTCAGAGGTGGACTCCCCCTCAACCCCCCACGATGAGTGGCAGGGGGAGATGAAGGATGGGTGGGCAAGGGCAGAGAAGAGGAGCCACACCAGGAGAGGGGAAAGCTCTAGGAAAGGAGGGCGCTGGCCAGGACCCTGAGAACATATGCTGACCATCACGCTCTCCCAGACTTCCCTCTCTGGGCCCTGCTCCTCCAATCCCAGAGCTCCACATGACGGAGAGAGAGGTGGGAGCAGGGAGACAAAATACAGAGGCAAGGAGCGGTGGTGGGGCACGGTAGGAAAGAGCAGGAGAAGAAAAAGACAAAGAGCTGGGGCACAGAAAAGGGATGAGGAGTGCCAGATGGGTTTGCAGGAGAGCAGAGGGGAAGACCAGGGTGGCGGCGGGACACACCCGTCTGCAGCCAAAGAGGCACCTCCATCAGGGCGGCAGAAAGGCCAACACTGATGTCTCAGCAGAGGCCTCTCCCAGGCAGTGGGCAAGACCTCACAAGAATGAGAAGGAAACGGGGGTAGGGGATGGGAGTGGAAAGCAAAGGGAGAAAAAGGTGGGCCCAGGAGCGGTGGGGAGCCCCAGGAGCAAAGGGCCAGCCCAGCATCTGCTGAGGCCAGTAGGTCTGCAGACATCCCTCCCTTCCAAGACCCGGAGCCAGCCCATGCTGCCAGGAACATCAGCTTTGGGGCCCAGGGCCCAGGCCACGGTCCTGGACCAACGGATGCCTGGTACCAGGACACAGCCAGGACCCTTCCCACCCTGCCGGCCCTTGCAGGTCCTGTGCTGCCCTGCTGCACTTCCCCCCCCAGCCAGGCCCAGAAGCCTTGGCAAGGCCAGCTGCTCTTGGCCATCTCTCACCAAGCACTTGCTCTGTGCCTGGCCTTGGGCACCTTGGCCGGTACAGCAGAGAGGAATCAGATGTGGGTCTCTGTCCTGACATGGGGGAACACTTAAGGCTGTGGGACCCTGGGGGTAGAGATCTCTTCTAGCCTGGGCAGTCAGTGAGACTTCCTGGAGTGGGTGGCAGCTCAGACAGAGGGGAGAGGTTGCAACAAAGGTAAGGAGACCAGAAAGATGGAGCATCTTACTGGGGAGTTTTGAATTGCTCAAGGTGACTAGAGGTCACAGAGGATGGAGTGGGAAAGTGAGAGTGGCAGCAGGGGGCAGGTGGGCACCGGGAGGCAGCCACCGATGATGTTGTGCTACAGCGGTCGGGACACAGCCCCTTGGGCAACTGCAGCTGGATGCCAAGGGCTGACACAGGGATGAGAGAAAAACCAAAACAAAACCCCCACATGAGCAAGAAAATGTACACTGCACAACTTGCAGGCTCCCCACTGCTGCCCCT
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Task1_train_3988
|
The gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Trichothiodystrophy 2, photosensitive
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CCCAAATAGAATGTAAGCATCTTGATGGCAGAGAATACAGCTTAAATCCTCCCAGGTTCCCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGAAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTC
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CCCAAATAGAATGTAAGCATCTTGATGGCAGAGAATACAGCTTAAATCCTCCCAGGTTCCCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGGTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGAAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTC
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Task1_train_3989
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This sequence variant lies in ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Trichothiodystrophy 2, photosensitive
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CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGAAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTCGTCTCAAAAAAAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT
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CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGGAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTCGTCTCAAAAAAAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT
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Task1_train_3990
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Gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Xeroderma pigmentosum group B
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CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGAAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTCGTCTCAAAAAAAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT
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CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATTTGCCAGTCAGACTTTGAGGGGCTGCCTATCCCCGCTGTTGTCCCTGATCCACCACTACAGTGCACCAACACCTACATCCCTGCAGGCAATTCGCAGCCAAGACCAGGCAGAGCCACAGTGTTGGTACAAGGTCCTCTCCTTGGGCACGCTTTCTTTTTTGTTGTTGTTCTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGAATGGTGAGATCTCAGCTCACTTCAACCTCTGCCGCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCGAATTTTTGTATTTTTAGTAGAGACAGGAATTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGGTCCACCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCGGGCACGCTTTCACATCACAGGAAAAGAGAGTTCTCTCCAGGACTCCTGCAGCTTCTCTGGGACTGGCTGCAGTACCATACTGAATTCCTGTGGCACTCTTCTGCCACTCCAGATCCCAAGGTCTGAATCTGACTCCTTTTGGATCAGCCAAAGGCAATGAAAGCCACTGTCCATCTCTTTTAAATGGCATTCACCCATCTCGCAGAAGAAACCTAGCATGTTCAACTATTAATCACATGGAACCCTCTTTGTTTTGTCAAAAACATCTGAAGTTGTTTTTGACTTTCCCTCATGGAACTTGTTGACTATTGGTCTCCTGCAGATACTTAGCTTTAGACAGAGTTTACCACCTGTGTTAGTCAGCTTGGGCTGCCATAATAAAATTCCAGACTGGGTGGCTTCAACATTAGAACTGTATTTTCTCAGAGCTGTGGAGGCTGAAAGTCTATGATCAAGGTATCAGCCGATTCAGTTTCTGGTGAAGGCTCTTGTCTATGGACCACCTTCCCATTGTGTACTCACATGACAAGAAGGGCAGGTGAGAGAAAGCATGCTCCGGTGTCTCTTCTTAGGAGGACACTAATCATAGCGGATCACGACCTCATTTAGTCTTAACTACTTTCTTACTCCAAATACATTACCATTGGATATTAGGTTTTGAAGACAAAATTTGAGGGGAACACACACAATTCAGTCCCCAGCACACTCACTTTGGGCTGCATTTCCAAATTCTCCCTGGCTACAATGGGCCTGAATTAGTAGCCCCTCTGTGTTAATACCCACAGCTGGGAGCGGCTCATGAGAAGCGTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGAGAAGCATGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTGGGGTAATCAGTCGTTATGCTCCCCACAGGAAATCTGAATGGCACATTCTCATGGCTGCCACAGGCTGACAACATGGAGCACCTATGCCTATTGTTACATTAGCAGGGCAGGTGGAATTGCTGGTCTCAGCTGTCACTTGCCTTAATAAACTGCATAATTCCATCAGGGACTCCAGTCTTGCTGAGCTTCCTGAGGTACTCGGTGATGTCACTGGTTTGCAGCCCAACGCTGACAGCTGCATACAAGGAGTAGGCAGTTAGTTTGTACTCATGCACATGGGTTGGTCGGCACACTGGCTCTGCAATAGCCACCAAGGAGTCTTGGGCATATTTGTAAACTGGAGAGAAGGCTTCCAAGAAGATATGGCCATCGGGAGCCTGAGAGATACCAAATGGACAAAACAGACAAGGAAACATGAGTTGCAGAGACTACTGGGCTCTTGCCCATATCATTATCAAGAAAGAATAAGCTGCCCAACACCACAGATATTCTTGCAAGCACTCCTTCAGACAACTGTGGGGCCTGTTACATTAATCAGATACAGAAGAGTAAAGAAAAATAGAAGAAAGTGTTTCCAAAGTCAACAGCTGTTTCCTACTATTCTGCACAGAGAAAGCCCATCTTACTGGCTATCCTCAAGTTACCTTTTGGCTAGATTTCAACTAAATGTATAACATTAATTATTTAAAGTAGAGCAAAAGCTTGCTACCGAACATGTCTTCCATTATTTGAGGAAACAAACTGTTACATGATAAATGCTATTTATTCGGCAGATAAAAGGATTCACTACATGGGGTAGGGCTGGGGAAGGAGTGAGAGTAAACCGAGGGGTTAGAGCTGTTGGAAGCCCAGGTCCGGCCGCCACACGTGTGCGCAACTGCTCGCTGTTGCCTTGGGCTGTTCCAACGTGTGTGGATGAAAATTCTCTCCCGGCCAGTTCTAGGGGCAGTATCCTGAATGTCAGTTTTGACTCTGAGGATGCCCAAGATTTAGCTGCCGCTCCGCACACTCCTGGGCCCTGCCCAAGCTAAGGGCATGCTTACCACCCAGAGGGGCCTGGAGGTGTGGTCGTCCTTCAGCGGCATTTGCAGCCTGTAGTCCTTGGCTCCATATTCATCCACTTTGGTGCCTGACTCATCCACCTGCTTCCCCGCCGCCGAGGGAACCGCTTCCTGAGGGTCGTTCCCCGGGGCGTCCTCTTCATCATCCTCTTCATCCTCATAGTGCCGCTTCCTGGATTTCTTCTTGTCTGCAAGATACCAACACAGAAGTAAGCCCAGCAGGAGCCTTCAGGGTTCCCTCCGCACCGCTTGGCAGCATTTCACCTGCGCCGCCGCAAACTCCTAGCTAAGAGCCACCTGCATCCCGCAGGCGTTGCGCCCCTCACCCGTCTCCCCTAGGCCGAGTTCGCTGGGCTGCGCCCAGGTCCAGCATCTCTCCCGCCCAAAGGCCTGTCCCAACGGGGTGCGCGCGGGAGGGCCAGCAGGGTCGGCCGGCGCAGAGGCCCGGAGCAGCTCCGAGGCAGAGCGGGGGGCAGGGCCGGCAAGGGCAGTCGTGGCTGAGCGTGCCCGCGCAACGTCTCACCGCGGTCCGCTCGGTCTCTTTTGCCCATGGCAGCTACAGCAGCAGAGAGAAGATGACCCCGCTCCCACAGGCCCGCCGCGGCATCCGCTCTGGGGGGACTTCCGGCTCAATCCGGAAGCTCCCTGTTGTCCACACAGGATGTCCCGCCTCTAGGCGCCGTGATGTGGGTGGCTGGAAGAGCGGAGAGCCAGCGACCGCCGATCTGTTAGCTCGTGCGACCCAGCGGCGGGGGTCCTCCACTGTTCATTTCTCTACAACTGAAGGAAAATACTGTGTGTTGAGCACCTGTGTAGTGCGCGAATTAAAGGCCTCATCCTTCTGGAACTTAAATTTTAATGAAGCCATGTGGGCAATAAATGTGTGTGTGAGAGAGAGAGAGAGAGAATGTGACCTGAGTCCATGGGTAAGGAAGAATTCTTTTTTTTAATTAAAAAAAATTTGGCTGAGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTGCGAAAAATACAAAAAAAAGTAGCCAGGCATGGTGGCACACGCCTGTAGTCTAAGCTACTTGGGAGGCTGAGATGGGAGAATCTCTTGAACCCAGAAGGTAAAGGCTGCACTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGCGACAGGCCGAGAGTTCGTCTCAAAAAAAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT
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Task1_train_3991
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This is a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
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GGAGGTGAGGGTGGAGCCCAGTGCCCAGCACCTATGCACTGGGGACCCAAAAAGGAGCATCTTCTCATGATTTTATGTATCAGAAATTGGGATGGCATGTCATTGGGACAGCGTCTTTTTTCTTGTATGGTGGCACATAAATACATGTGTCTTATAATTAATGGTATTTTAGATTTGACGAAATATGGAATATTACCTGTTGTGCTGATCTTGGGCAAACTATAATATCTCTGGGCAAAAATGTCCCCATCTGAAAAACAGGGACAACGTTCCTCCCTCAGCCAGCCACTATGGGGCTAAAATGAGACCACATCTGTCAAGGGTTTTGCCCTCACCTCCCTCCCTGCTGGACGGCATCCTTGGTGGGCAGAGGTGGGCTTCGGGCAGAACAAGCCGTGCTGAGCTAGGACCAGGAGTGCTAGTGCCACTGTTTGTCTATGGAGAGGGAGGCCTCAGTGCTGAGGGCCAAGCAAATATTTGTGGTTATGGATTAACTCGAACTCCAGGCTGTCATGGCGGCAGGACGGCGAACTTGCAGTATCTCCACGACCCGCCCCTGTGAGTCCCCCTCCAGGCAGGTCTATGAGGGGTGTGGAGGGAGGGCTGCCCCCGGGAGAAGAGAGCTAGGTGGTGATGAGGGCTGAATCCTCCAGCCAGGGTGCTCAACAAGCCTGAGCTTGGGGTGAAAGGACACAAGGCCCTCCACAGGCCAGGCCTGGCAGCCACAGTCTCAGGTCCCTTTGCCATGCGCCTCCCTCTTTCCAGGCCAAGGGTCCCCAGGGCCCAGGGCCATTCCAACAGACAGTTTGGAGCCCAGGACCCTCCATTCTCCCCACCCCACTTCCACCTTTGGGGGTGTCGGATTTGAACAAATCTCAGAAGTGGCCTCAGAGGGAGTCGGCAAGAATGGAGAGCAGGGTCCGGTAGGGTGTGCAGAGGGCCACGTGGCCTATCCACTGGGGAGGGTTCCTTGATCTCTGGCCACCAGGGCTATCTCTGTGGCCTTTTGGAGCACCTGGTGGTTTGGGGCAGGGGTTGAATTTCCAGGCCTAAAACCACACAGGCCTGGCCTTGAGTCCTGGCTCTGCGAGTAATGCATGGATGTAAACATGGAGACCCAGGACCTTGCCTCAGTCTTCCGAGTCTGGTGCCTGCAGTGTACTGATGGTGTGAGACCCTACTCCTGGAGGATGGGGGACAGAATCTGATCGATCCCCTGGGTTGGTGACTTCCCTGTGCAATCAACGGAGACCAGCAAGGGTTGGATTTTTAATAAACCACTTAACTCCTCCGAGTCTCAGTTTCCCCCTCTATGAAATGGGGTTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAG
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GGAGGTGAGGGTGGAGCCCAGTGCCCAGCACCTATGCACTGGGGACCCAAAAAGGAGCATCTTCTCATGATTTTATGTATCAGAAATTGGGATGGCATGTCATTGGGACAGCGTCTTTTTTCTTGTATGGTGGCACATAAATACATGTGTCTTATAATTAATGGTATTTTAGATTTGACGAAATATGGAATATTACCTGTTGTGCTGATCTTGGGCAAACTATAATATCTCTGGGCAAAAATGTCCCCATCTGAAAAACAGGGACAACGTTCCTCCCTCAGCCAGCCACTATGGGGCTAAAATGAGACCACATCTGTCAAGGGTTTTGCCCTCACCTCCCTCCCTGCTGGACGGCATCCTTGGTGGGCAGAGGTGGGCTTCGGGCAGAACAAGCCGTGCTGAGCTAGGACCAGGAGTGCTAGTGCCACTGTTTGTCTATGGAGAGGGAGGCCTCAGTGCTGAGGGCCAAGCAAATATTTGTGGTTATGGATTAACTCGAACTCCAGGCTGTCATGGCGGCAGGACGGCGAACTTGCAGTATCTCCACGACCCGCCCCTGTGAGTCCCCCTCCAGGCAGGTCTATGAGGGGTGTGGAGGGAGGGCTGCCCCCGGGAGAAGAGAGCTAGGTGGTGATGAGGGCTGAATCCTCCAGCCAGGGTGCTCAACAAGCCTGAGCTTGGGGTGAAAGGACACAAGGCCCTCCACAGGCCAGGCCTGGCAGCCACAGTCTCAGGTCCCTTTGCCATGCGCCTCCCTCTTTCCAGGCCAAGGGTCCCCAGGGCCCAGGGCCATTCCAACAGACAGTTTGGAGCCCAGGACCCTCCATTCTCCCCACCCCACTTCCACCTTTGGGGGTGTCGGATTTGAACAAATCTCAGAAGTGGCCTCAGAGGGAGTCGGCAAGAATGGAGAGCAGGGTCCGGTAGGGTGTGCAGAGGGCCACGTGGCCTATCCACTGGGGAGGGTTCCTTGATCTCTGGCCACCAGGGCTATCTCTGTGGCCTTTTGGAGCACCTGGTGGTTTGGGGCAGGGGTTGAATTTCCAGGCCTAAAACCACACAGGCCTGGCCTTGAGTCCTGGCTCTGCGAGTAATGCATGGATGTAAACATGGAGACCCAGGACCTTGCCTCAGTCTTCCGAGTCTGGTGCCTGCAGTGTACTGATGGTGTGAGACCCTACTCCTGGAGGATGGGGGACAGAATCTGATCGATCCCCTGGGTTGGTGACTTCCCTGTGCAATCAACGGAGACCAGCAAGGGTTGGATTTTTAATAAACCACTTAACTCCTCCGAGTCTCAGTTTCCCCCTCTATGAAATGGGGTTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTAGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAG
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Task1_train_3992
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Gene PROC (protein C, inactivator of coagulation factors Va and VIIIa), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
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TTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGT
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TTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGTGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGT
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Task1_train_3993
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Here’s a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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ATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGT
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ATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCTGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGT
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Task1_train_3994
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This is a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; PROC-related disorder
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GCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGC
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GCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGACACAAACATCCTGGCACCCTCTCCACTGCATTCTGGAGCTGCTTTCTAGGCAGGCAGTGTGAGCTCAGCCCCACGTAGAGCGGGCAGCCGAGGCCTTCTGAGGCTATGTCTCTAGCGAACAAGGACCCTCAATCCCAGCTTCCGCCCTGACGGCCAGCACACAGGGACAGCCCTTTCATTCCGCTTCCACCTGGGGGTGCAGGCAGAGCAGCAGCGGGGGTAGGCACTGCCCGGAGCTCAGAAGTCCTCCTCAGACAGGTGCCAGTGCCTCCAGAATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCAGCTCCTCTTGGTAAGGCCACCCCACCCCTACCCCGGGACCCTTGTGGCCTCTACAAGGCCCTGGTGGGCATCTGCCCAGGCCTTCACAGCTTCCACCATCTCTCTGAGCCCTGGGTGAGGTGAGGGGCAGATGGGAATGGCAGGAATCAACTGACAAGTCCCAGGTAGGCCAGCTGCCAGAGTGCCACACAGGGGCTGCCAGGGCAGGCATGCGTGATGGCAGGGAGCCCCGCGATGACCTCCTAAAGCTCCCTCCTCCACACGGGGATGGTCACAGAGTCCCCTGGGCCTTCCCTCTCCACCCACTCACTCCCTCAACTGTGAAGACCCCAGGCCCAGGCTACCGTCCACACTATCCAGCACAGCCTCCCCTACTCAAATGCACACTGGCCTCATGGCTGCCCTGCCCCAACCCCTTTCCTGGTCTCCACAGCCAACGGGAGGAGGCCATGATTCTTGGGGAGGTCCGCAGGACACATGGGCCCCTAAAGCCACACCAGGCTGTTGGTTTCATTTGTGCCTTTATAGAGCTGTTTATCTGCTTGGGACCTGCACCTCCACCCTTTCCCAAGGTGCCCTCAGCTCAGGCATACCCTCCTCTAGGATGCCTTTTCCCCCATCCCTTCTTGCTCACACCCCCAACTTGATCTCTCCCTCCTAACTGTGCCCTGCACCCAAGACAGACACTTCACAGAGCCCAGGAGACACCTGGGGACCCTTCCTGGGTGATAGGTCTGTCTATCCTCCAGGTGTCCCTGCCCAAGGGGAGAAGCATGGGGAATACTTGGTTGGGGGAGGAGAGGAAGACTGGGGGGATGTGTCAAGATGGGGCTGCACGTGGTGTACTGGCAGAAGAGTGAGAGGATTTAACTTGGCAGCCTTTACAGCAGCAGCCAGGGCTTGAGTACTTATCTCTGGGCCAGGGACTGTATTGGATGTTTTACATGACGGTCTCATCCCCATGTTTTTGGATGAGTAAATTGAACCTTAGAAAGGTAAAGACACTGGCTCAAGGTCACACAGAGATCGGGGTGGGGTTCACAGGGAGGCCTGTCCATCTCAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGCGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGC
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Task1_train_3995
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Consider a variant on Chromosome 2 in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa). Determine its clinical classification and disease relevance.
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Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
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CAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAA
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CAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACTGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAA
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Task1_train_3996
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The following genetic variant occurs in PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
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CCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCAC
|
CCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCTGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCAC
|
Task1_train_3997
|
A genomic change on Chromosome 2 affects PROC (protein C, inactivator of coagulation factors Va and VIIIa). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
|
CCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACG
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CCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGATGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACG
|
Task1_train_3998
|
A genomic change on Chromosome 2 affects PROC (protein C, inactivator of coagulation factors Va and VIIIa). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
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CCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACGG
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CCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGCGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACGG
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Task1_train_3999
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With a mutation on Chromosome 2 in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant
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CTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACGGGCTGAGATTTTTGCTTTCCAGTCTGCCAAGTCAGTTACTGTGTCCATCCATCTGCTGTCAGCTTCTGGAATTGTTGCTGTTGTGCCCTTTCCATTCTTTTGTTATGATGCAGCTCCCCTGCTGACGACGTCCCATTGCTCTTTTAA
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CTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGGCCCTATGATGTCGGCCAGGCACATGTGACTGCAAGAAACAGAATTCAGGAAGAAGCTCCAGGAAAGAGTGTGGGGTGACCCTAGGTGGGGACTCCCACCAGCCACAGTGTAGGTGGTTCAGTCCACCCTCCAGCCACTGCTGAGCACCACTGCCTCCCCGTCCCACCTCACAAAGAGGGGACCTAAAGACCACCCTGCTTCCACCCATGCCTCTGCTGATCAGGGTGTGTGTGTGACCGAAACTCACTTCTGTCCACATAAAATCGCTCACTCTGTGCCTCACATCAAAGGGAGAAAATCTGATTGTTCAGGGGGTCGGAAGACAGGGTCTGTGTCCTATTTGTCTAAGGGTCAGAGTCCTTTGGAGCCCCCAGAGTCCTGTGGACGTGGCCCTAGGTAGTAGGGTGAGCTTGGTAACGGGGCTGGCTTCCTGAGACAAGGCTCAGACCCGCTCTGTCCCTGGGGATCGCTTCAGCCACTAGGACCTGAAAATTGTGCACGGCCTGGGCCCCCTTCCAAGGCATCCAGGGATGCTTTCCAGTGGAGGCTTTCAGGGCAGGAGACCCTCTGGCCTGCACCCTCTCTTGCCCTCAGCCTCCACCTCCTTGACTGGACCCCCATCTGGACCTCCATCCCCACCACCTCTTTCCCCAGTGGCCTCCCTGGCAGACGCCACAGTGACTTTCTGCAGGCACATATCTGATCACATCAAGTCCCCACCGTGCTCCCACCTCACCCATGGTCTCTCAGCCCCAGCAGGCCTTGGCTGGCCTCTCTGATGGAGCAGGCATCAGGCACAGGCCGTGGGTCTCAACGTGGGCTGGGTGGTCCTGGACCAGCAGCAGCCGCCGCAGCAGCAACCCTGGTACCTGGTTAGGAACGCAGACCCTCTGCCCCCATCCTCCCAACTCTGAAAAACACTGGCTTAGGGAAAGGCGCGATGCTCAGGGGTCCCCCAAAGCCCGCAGGCAGAGGGAGTGATGGGACTGGAAGGAGGCCGAGTGACTTGGTGAGGGATTCGGGTCCCTTGCATGCCAGAGGCTGCTGTGGGAGCAGACAGTCGCGAGAGCAGCACTGCAGCTGCATGGGGAGAGGGTGTTGCTCCAGGGACGTGGGATGGAGGCTGGGCGCGGGCGGGTGGCGCTGGAGGGCGGGGGAGGGGCAGGGAGCACCAGCTCCTAGCAGCCAACGACCATCGGGCGTCGATCCCTGTTTGTCTGGAAGCCCTCCCCTCCCCTGCCCGCTCACCCGCTGCCCTGCCCCACCCGGGCGCGCCCCCTCCGCACACCGGCTGCAGGAGCCTGACGCTGCCCGCTCTCTCCGCAGCTGGCCTTCTGGTCCAAGCACGTCGGTGAGTGCGTTCTAGATCCCCGGCTGGACTACCGGCGCCCGCGCCCCTCGGGATCTCTGGCCGCTGACCCCCTACCCCGCCTTGTGTCGCAGACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCGTGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGCGACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCGGTGAGGGGGAGAGGTGGATGCTGGCGGGCGGCGGGGCGGGGCTGGGGCCGGGTTGGGGGCGCGGCACCAGCACCAGCTGCCCGCGCCCTCCCCTGCCCGCAGAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTGCACGCCTTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGTAGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAGGTGAGAAGCCCCCAATACATCGCCCAGGAATCACGCTGGGTGCAGGGTGGGCAGGCCCCCTGACGGGGCGCGGCGCGGGGGGCTCAGGAGGGTTTCTAGGGAGGGAGCGAGGAACAGAGTTGAGCCTTGGGGCAGCGGCAGACGCGCCCCAACACCGGGGCCACTGTTAGCGCAATCAGCCCGGGAGCTGGGCGCGCCCTCCGCTTTCCCTGCTTCCTTTCTTCCTGGCGTCCCCGCCTTCCTCCGGGCGCCCCCTGCGCACCTGGGGCCACCTCCTGGAGCGCAAGCCCAGTGGTGGCTCCGCTCCCCAGTCTGAGCGTATCTGGGGCGAGGCGTGCAGCGTCCTCCTCCATGTAGCCTGGCTGCGTTTTTCTCTGACGTTGTCCGGCGTGCATCGCATTTCCCTCTTTACCCCCTTGCTTCCTTGAGGAGAGAACAGAATCCCGATTCTGCCTTCTTCTATATTTTCCTTTTTATGCATTTTAATCAAATTTATATATGTATGAAACTTTAAAAATCAGAGTTTTACAACTTTTACATTTCAGCATGCTGTTCCTTGGCATGGGTCCTTTTTTCATTCATTTTCATTAAAAGGTGGACCCTTTTAATGTGGAAATTCCTATCTTCTGCCTCTAGGGACATTTATCACTTATTTCTTCTACAATCTCCCCTTTACTTCCTCTATTTTCTCTTTCTGGACCTCCCATTATTCAGACCTCTTTCCTCTAGTTTTATTGTCTCTTCTATTTCCCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTCAGGGAACTTTCTACAACTTTATAATTCAATTCTTCTGCAGAAAAAAATTTTTGGCCAGGCTCAGTAGCTCAGACCAATAATTCCAGCACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCTTGGGAGTTTGAGACTAGCCTGGGCAACACAGTGAGACCCTGTCTCTATTTTTAAAAAAAGTAAAAAAAGATCTAAAAATTTAACTTTTTATTTTGAAATAATTAGATATTTCCAGGAAGCTGCAAAGAAATGCCTGGTGGGCCTGTTGGCCTGTGGGTTTCCTGCAAGGCCTTGGGAAGGCCCTGTCATTGGCAGAACCCCAGATCGTGAGGGCTTTCCTTTTAGGCTGCTTTCTAAGAGGACTCCTCCAAGCTCTTGGAGGATGGAAGACGCTCACCCATGGTGTTCGGCCCCTCAGAGCAGGGTGGGGCAGGGGAGCTGGTGCCTGTGCAGGCTGTGGACATTTGCATGACTCCCTGTGGTCAGCTAAGAGCACCACTCCTTCCTGAAGCGGGGCCTGAAGTCCCTAGTCAGAGCCTCTGGTTCACCTTCTGCAGGCAGGGAGAGGGGAGTCAAGTCAGTGAGGAGGGCTTTCGCAGTTTCTCTTACAAACTCTCAACATGCCCTCCCACCTGCACTGCCTTCCTGGAAGCCCCACAGCCTCCTATGGTTCCGTGGTCCAGTCCTTCAGCTTCTGGGCGCCCCCATCACGGGCTGAGATTTTTGCTTTCCAGTCTGCCAAGTCAGTTACTGTGTCCATCCATCTGCTGTCAGCTTCTGGAATTGTTGCTGTTGTGCCCTTTCCATTCTTTTGTTATGATGCAGCTCCCCTGCTGACGACGTCCCATTGCTCTTTTAA
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Subsets and Splits
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