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_14700
|
This gene mutation involves UROS (uroporphyrinogen III synthase) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Cutaneous porphyria
|
CCCTTTCAAACTGGCTTTTGCCTACTCAGCCTTCACGTTCTCAGGAATCTCCAGCCCAATTGCCAAAGCAAGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCCCGAGGCTCTGAAAAGGAACCTATTTTCCCTGCCCTGCAACAGGGTGTTTTTCCTCCTCCTTCAATGTGTGCTTCCGAAGCCCACACATCCCTCCCGCTCTTGTCTGCCTACAGCTTGGACTTCTCCTCCTCCTTCCTCACTTCCGGGCTTGTCTTGCTTCTCCAGCCTCTTCACCATGCATGAGGGCATTCCTGATCACACTCCAGCTATGGGGGACCCCATTCCTGCAATCCAGCAGTTTCCAAACACGGGTGCACACTGGAGGCACCTGGAGAGCGTCTAACACCTCCTGCTGCTTGGGCTTTATTCTAGAAACCAATTCAGGGGACTCTCTGGGGGTGGGGCCTGAGCTACTTCATTTTAGAAGCACATTACGTGGTTCTGATGTATAGCCAGGTTCTTAGTTCCTGGGCAAATCTATTTCACTTTGGTACTATGGTGAAAACGTGTATGAAACAGTGCTTGCCCAATTATTTTCCTTAATCTTGACACAAGTGGTCACTTCATGGAACCATCACCATAATCCCGTTTTAGAACAGTTCTCAAAGAATTTCTGTATACTCACATCAAGATTTGGAGAACAATCATCACCAAATTCTAACCTCTCAACTAGTGTGAATCTCCTACGAGGTGGCTGATGAATTTCATTAGTCTAGGCCTCAGTGCTTATGCTCGTCCATGCCTTTTAATTTTGTTCTGGTTCTGCCACTCACTAGCATGTGACCCTGACAAATCATTTCACCTCACCAGAGTCTGTTTCCTCACCAGAAAAATGGAACAATAGGAATGTCCACTCCTCAGGGTTATGAGGAATGGAGATCAGAGACGGGGAGCCCAAATGCCTTTCAGCCAGATCTTTCAAGGAGACAGAGGTGTGTGGGCAGAGCCTTCCCACCACCAGCCCACATGCTACTAAGAGACAAGTCTGGGTTTCAGTCAACTTAGCCTAAACTTCAGGCTGAGTTGGGAATGAAGTTTGGGAACTTTGGGAATGAAGTTTGGGAACAGATTTCCAAAGCCTTTCTGCAGGGCACTGCATTTGCACATGAACCTCTTCTCAGTAAATACCGGCCTCTCTAGCCCCTCAGATTCCTGGGAGATCAGATGGTTTGACTGTCTAATGCTGCAGCTGCATCTTTGAGGGAAAGCAAGTCTTTCTATATTTGAACCACAGTTGTCCATGGCTCACAAGCAGGAACTTCACGGTCCTTTTTATAGAATGAATAAACCTACTTTATATAGAGCAAATTTTCTGATTCATAGCAGGTTTGTGGGTTATCAGAGGTGGGCATACCTGTCTCCTCCCTGAACACAGCTTTGCACTTAAAATGACACACAGCAACCATACACTCAGTAAGCACAGGTAGTCAGTGTGGTTTATTTGACTTCCTTCCTGCTGGGCACAGGAAGCTCTCACAGGGCTAGGGTTTAAGCTGGCTTCCACAGAGGGCAGTCACGTGCACGTGGGCCTGAGGCCAGCCCCAGGTCAGGTCCCGATCCCCGGTCCTCAGGTGCTTCCACTCAGGCTTGAGGCAGGAGTCTGACGGCAGCAGCTCCCGAGAGCCCTTGCCGATGCCTGGCTCCATCCAGAGCCAGCCCAGCCCAGGGAGGCTGCATGGGGCCAGCGCTAGGTGGCTGACTCAGCAGCAGCCATGGGGCTGGAGAGCCTTCCTGATGCCAGTGGCCAGGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGCGCGCGAGCCGTAGTGGGGCCGATGGCTGCAAACTATAAAGACAGAAGAGAAAACAGGGCTTCAGCACACCAGGAGGGGCTGGGGCAGCAGGCAGCTGGATGTGTGCAGGGGCCGTCAGCCAGCTTTGCGGTTGGACGTTACTGCTCATGTGACGTGTTTATAAAAATGACAACACTGCCCGATTCTAGCCCAGCTTCTGAGCGTGCAAAATACCTCTGCATCCACGCTCTCATCAGTCTGCCACCCTGAGCGACTGTCGCCAGGCTCAGGTGAGGGGCAGGGACTTGAAGGCCCCAGGCTGGTGCTCACCATCACGGCTGTGTCAGTGCAGTCCTTCCTCAGAGGCTCTAGCTGCAGACAGTTCTTCTTCGGGTGTTGGGGGCCCTGGGTCTGATCAAGGGGAGGATGGTGTGGCAGGGGCAGTGACTGAATCCCCAAGAAAGTAGAGCCATCAAGGTCAGGGCTCTGTGGGCACAGGGTTGGGATTTAAATCCCAGCTCCACAGGACAATGACCTTGGCCCGTGGCCCATCCTCTCTGGCCTCCATCTCCTCATCTGTCAAACCGAAAAGATAACAGGACTCTTCACTGGGCTGCTGTGGGGATCAAATGAGGTGACAGGTGTGAACCACTTGGCCTGGCCCAGAGATAAGCTCAATGACCGTCATGGGCTGCTGCCTATGTTGTCGTGATACTTCCAATCAGCCAATCCGGGGCACTGGCCTCATCCACAGGACATCTCTCTCTGAACAAGCACCACAGGCTCGATGGTTCTGTGCAGAGCCTCGCCTGGGATGGAGCACTGCTTCTGTCCCGGCTCTGCCCCCTGCTAGCTGTTATTAGTGCAAGTCCCTTAGCCTCTCTGATCCTCACCTATAAAAGGGGCACAGTTACCCTGGCCTCAGAGGGCTAGTGTGGGGGTTAAATGAGAGAAGGTCCTCATCCCCCACTCTCCTCTGCATTGAGACTGTGGACCCCAAACCTGTTTGGGAGCAAGTGAGCATCCAACATTGGCAGCCCCTGCCCAGCACTCCGCTTCATCCTCCCTCCCAGCAAGTGAGCAGCAGGCCAGGTGGTAGTGGAGGTAACAAGCCACCTGTACCTCTGCATAACCTCGGATGCTGCGGGACTGAGGCTCCTTCCTCCGGCTGAGTCAGAACGAGGGGAGGGAGGCCACTGTCCTGCAGAGGCCCCGCTCCCACCCCGCCCACAGTACTGCCTTGCTAAGCACCCATTGCTTAGGAAACTCCCTGAGGAAAAAATAAAGTTGGACCCCTACCTCACACAACACACAAAAATCAATTCAAAACAGATCAAATACCTAAGTTCAGAGCTAAAACTACACAACTCGTAGAAGGAAACATAGGAGTAAATCTTCAAAACACTGAATTAAAGCAACACTAAATTAATGGTTTCTTGGATACAACACCCGAAGCACAAGAAACAAAAGAAAAAAACAATAAATTGAACTTTATCAAAAAAGTAAAAAGACAACTCGCAGAATGGGAGAAAATTTTTACAAATCGTATGTCTGATAAAAAGTTTGTATTTAGAGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTGTACTAAAAATGCATATAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAATGTATTCAGAGGCCAGGCGCCGTGGCTCATGCCTGTAATACCAACACTTTGGCAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGT
|
CCCTTTCAAACTGGCTTTTGCCTACTCAGCCTTCACGTTCTCAGGAATCTCCAGCCCAATTGCCAAAGCAAGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCCCGAGGCTCTGAAAAGGAACCTATTTTCCCTGCCCTGCAACAGGGTGTTTTTCCTCCTCCTTCAATGTGTGCTTCCGAAGCCCACACATCCCTCCCGCTCTTGTCTGCCTACAGCTTGGACTTCTCCTCCTCCTTCCTCACTTCCGGGCTTGTCTTGCTTCTCCAGCCTCTTCACCATGCATGAGGGCATTCCTGATCACACTCCAGCTATGGGGGACCCCATTCCTGCAATCCAGCAGTTTCCAAACACGGGTGCACACTGGAGGCACCTGGAGAGCGTCTAACACCTCCTGCTGCTTGGGCTTTATTCTAGAAACCAATTCAGGGGACTCTCTGGGGGTGGGGCCTGAGCTACTTCATTTTAGAAGCACATTACGTGGTTCTGATGTATAGCCAGGTTCTTAGTTCCTGGGCAAATCTATTTCACTTTGGTACTATGGTGAAAACGTGTATGAAACAGTGCTTGCCCAATTATTTTCCTTAATCTTGACACAAGTGGTCACTTCATGGAACCATCACCATAATCCCGTTTTAGAACAGTTCTCAAAGAATTTCTGTATACTCACATCAAGATTTGGAGAACAATCATCACCAAATTCTAACCTCTCAACTAGTGTGAATCTCCTACGAGGTGGCTGATGAATTTCATTAGTCTAGGCCTCAGTGCTTATGCTCGTCCATGCCTTTTAATTTTGTTCTGGTTCTGCCACTCACTAGCATGTGACCCTGACAAATCATTTCACCTCACCAGAGTCTGTTTCCTCACCAGAAAAATGGAACAATAGGAATGTCCACTCCTCAGGGTTATGAGGAATGGAGATCAGAGACGGGGAGCCCAAATGCCTTTCAGCCAGATCTTTCAAGGAGACAGAGGTGTGTGGGCAGAGCCTTCCCACCACCAGCCCACATGCTACTAAGAGACAAGTCTGGGTTTCAGTCAACTTAGCCTAAACTTCAGGCTGAGTTGGGAATGAAGTTTGGGAACTTTGGGAATGAAGTTTGGGAACAGATTTCCAAAGCCTTTCTGCAGGGCACTGCATTTGCACATGAACCTCTTCTCAGTAAATACCGGCCTCTCTAGCCCCTCAGATTCCTGGGAGATCAGATGGTTTGACTGTCTAATGCTGCAGCTGCATCTTTGAGGGAAAGCAAGTCTTTCTATATTTGAACCACAGTTGTCCATGGCTCACAAGCAGGAACTTCACGGTCCTTTTTATAGAATGAATAAACCTACTTTATATAGAGCAAATTTTCTGATTCATAGCAGGTTTGTGGGTTATCAGAGGTGGGCATACCTGTCTCCTCCCTGAACACAGCTTTGCACTTAAAATGACACACAGCAACCATACACTCAGTAAGCACAGGTAGTCAGTGTGGTTTATTTGACTTCCTTCCTGCTGGGCACAGGAAGCTCTCACAGGGCTAGGGTTTAAGCTGGCTTCCACAGAGGGCAGTCACGTGCACGTGGGCCTGAGGCCAGCCCCAGGTCAGGTCCCGATCCCCGGTCCTCAGGTGCTTCCACTCAGGCTTGAGGCAGGAGTCTGACGGCAGCAGCTCCCGAGAGCCCTTGCCGATGCCTGGCTCCATCCAGAGCCAGCCCAGCCCAGGGAGGCTGCATGGGGCCAGCGCTAGGTGGCTGACTCAGCAGCAGCCATGGGGCTGGAGAGCCTTCCTGATGCCAGTGGCCAGGGCTTGTTGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGCGCGCGAGCCGTAGTGGGGCCGATGGCTGCAAACTATAAAGACAGAAGAGAAAACAGGGCTTCAGCACACCAGGAGGGGCTGGGGCAGCAGGCAGCTGGATGTGTGCAGGGGCCGTCAGCCAGCTTTGCGGTTGGACGTTACTGCTCATGTGACGTGTTTATAAAAATGACAACACTGCCCGATTCTAGCCCAGCTTCTGAGCGTGCAAAATACCTCTGCATCCACGCTCTCATCAGTCTGCCACCCTGAGCGACTGTCGCCAGGCTCAGGTGAGGGGCAGGGACTTGAAGGCCCCAGGCTGGTGCTCACCATCACGGCTGTGTCAGTGCAGTCCTTCCTCAGAGGCTCTAGCTGCAGACAGTTCTTCTTCGGGTGTTGGGGGCCCTGGGTCTGATCAAGGGGAGGATGGTGTGGCAGGGGCAGTGACTGAATCCCCAAGAAAGTAGAGCCATCAAGGTCAGGGCTCTGTGGGCACAGGGTTGGGATTTAAATCCCAGCTCCACAGGACAATGACCTTGGCCCGTGGCCCATCCTCTCTGGCCTCCATCTCCTCATCTGTCAAACCGAAAAGATAACAGGACTCTTCACTGGGCTGCTGTGGGGATCAAATGAGGTGACAGGTGTGAACCACTTGGCCTGGCCCAGAGATAAGCTCAATGACCGTCATGGGCTGCTGCCTATGTTGTCGTGATACTTCCAATCAGCCAATCCGGGGCACTGGCCTCATCCACAGGACATCTCTCTCTGAACAAGCACCACAGGCTCGATGGTTCTGTGCAGAGCCTCGCCTGGGATGGAGCACTGCTTCTGTCCCGGCTCTGCCCCCTGCTAGCTGTTATTAGTGCAAGTCCCTTAGCCTCTCTGATCCTCACCTATAAAAGGGGCACAGTTACCCTGGCCTCAGAGGGCTAGTGTGGGGGTTAAATGAGAGAAGGTCCTCATCCCCCACTCTCCTCTGCATTGAGACTGTGGACCCCAAACCTGTTTGGGAGCAAGTGAGCATCCAACATTGGCAGCCCCTGCCCAGCACTCCGCTTCATCCTCCCTCCCAGCAAGTGAGCAGCAGGCCAGGTGGTAGTGGAGGTAACAAGCCACCTGTACCTCTGCATAACCTCGGATGCTGCGGGACTGAGGCTCCTTCCTCCGGCTGAGTCAGAACGAGGGGAGGGAGGCCACTGTCCTGCAGAGGCCCCGCTCCCACCCCGCCCACAGTACTGCCTTGCTAAGCACCCATTGCTTAGGAAACTCCCTGAGGAAAAAATAAAGTTGGACCCCTACCTCACACAACACACAAAAATCAATTCAAAACAGATCAAATACCTAAGTTCAGAGCTAAAACTACACAACTCGTAGAAGGAAACATAGGAGTAAATCTTCAAAACACTGAATTAAAGCAACACTAAATTAATGGTTTCTTGGATACAACACCCGAAGCACAAGAAACAAAAGAAAAAAACAATAAATTGAACTTTATCAAAAAAGTAAAAAGACAACTCGCAGAATGGGAGAAAATTTTTACAAATCGTATGTCTGATAAAAAGTTTGTATTTAGAGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTGTACTAAAAATGCATATAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAATGTATTCAGAGGCCAGGCGCCGTGGCTCATGCCTGTAATACCAACACTTTGGCAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGT
|
Task1_train_14701
|
Here is a genetic alteration in UROS (uroporphyrinogen III synthase) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
CACGTTCTCAGGAATCTCCAGCCCAATTGCCAAAGCAAGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCCCGAGGCTCTGAAAAGGAACCTATTTTCCCTGCCCTGCAACAGGGTGTTTTTCCTCCTCCTTCAATGTGTGCTTCCGAAGCCCACACATCCCTCCCGCTCTTGTCTGCCTACAGCTTGGACTTCTCCTCCTCCTTCCTCACTTCCGGGCTTGTCTTGCTTCTCCAGCCTCTTCACCATGCATGAGGGCATTCCTGATCACACTCCAGCTATGGGGGACCCCATTCCTGCAATCCAGCAGTTTCCAAACACGGGTGCACACTGGAGGCACCTGGAGAGCGTCTAACACCTCCTGCTGCTTGGGCTTTATTCTAGAAACCAATTCAGGGGACTCTCTGGGGGTGGGGCCTGAGCTACTTCATTTTAGAAGCACATTACGTGGTTCTGATGTATAGCCAGGTTCTTAGTTCCTGGGCAAATCTATTTCACTTTGGTACTATGGTGAAAACGTGTATGAAACAGTGCTTGCCCAATTATTTTCCTTAATCTTGACACAAGTGGTCACTTCATGGAACCATCACCATAATCCCGTTTTAGAACAGTTCTCAAAGAATTTCTGTATACTCACATCAAGATTTGGAGAACAATCATCACCAAATTCTAACCTCTCAACTAGTGTGAATCTCCTACGAGGTGGCTGATGAATTTCATTAGTCTAGGCCTCAGTGCTTATGCTCGTCCATGCCTTTTAATTTTGTTCTGGTTCTGCCACTCACTAGCATGTGACCCTGACAAATCATTTCACCTCACCAGAGTCTGTTTCCTCACCAGAAAAATGGAACAATAGGAATGTCCACTCCTCAGGGTTATGAGGAATGGAGATCAGAGACGGGGAGCCCAAATGCCTTTCAGCCAGATCTTTCAAGGAGACAGAGGTGTGTGGGCAGAGCCTTCCCACCACCAGCCCACATGCTACTAAGAGACAAGTCTGGGTTTCAGTCAACTTAGCCTAAACTTCAGGCTGAGTTGGGAATGAAGTTTGGGAACTTTGGGAATGAAGTTTGGGAACAGATTTCCAAAGCCTTTCTGCAGGGCACTGCATTTGCACATGAACCTCTTCTCAGTAAATACCGGCCTCTCTAGCCCCTCAGATTCCTGGGAGATCAGATGGTTTGACTGTCTAATGCTGCAGCTGCATCTTTGAGGGAAAGCAAGTCTTTCTATATTTGAACCACAGTTGTCCATGGCTCACAAGCAGGAACTTCACGGTCCTTTTTATAGAATGAATAAACCTACTTTATATAGAGCAAATTTTCTGATTCATAGCAGGTTTGTGGGTTATCAGAGGTGGGCATACCTGTCTCCTCCCTGAACACAGCTTTGCACTTAAAATGACACACAGCAACCATACACTCAGTAAGCACAGGTAGTCAGTGTGGTTTATTTGACTTCCTTCCTGCTGGGCACAGGAAGCTCTCACAGGGCTAGGGTTTAAGCTGGCTTCCACAGAGGGCAGTCACGTGCACGTGGGCCTGAGGCCAGCCCCAGGTCAGGTCCCGATCCCCGGTCCTCAGGTGCTTCCACTCAGGCTTGAGGCAGGAGTCTGACGGCAGCAGCTCCCGAGAGCCCTTGCCGATGCCTGGCTCCATCCAGAGCCAGCCCAGCCCAGGGAGGCTGCATGGGGCCAGCGCTAGGTGGCTGACTCAGCAGCAGCCATGGGGCTGGAGAGCCTTCCTGATGCCAGTGGCCAGGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGCGCGCGAGCCGTAGTGGGGCCGATGGCTGCAAACTATAAAGACAGAAGAGAAAACAGGGCTTCAGCACACCAGGAGGGGCTGGGGCAGCAGGCAGCTGGATGTGTGCAGGGGCCGTCAGCCAGCTTTGCGGTTGGACGTTACTGCTCATGTGACGTGTTTATAAAAATGACAACACTGCCCGATTCTAGCCCAGCTTCTGAGCGTGCAAAATACCTCTGCATCCACGCTCTCATCAGTCTGCCACCCTGAGCGACTGTCGCCAGGCTCAGGTGAGGGGCAGGGACTTGAAGGCCCCAGGCTGGTGCTCACCATCACGGCTGTGTCAGTGCAGTCCTTCCTCAGAGGCTCTAGCTGCAGACAGTTCTTCTTCGGGTGTTGGGGGCCCTGGGTCTGATCAAGGGGAGGATGGTGTGGCAGGGGCAGTGACTGAATCCCCAAGAAAGTAGAGCCATCAAGGTCAGGGCTCTGTGGGCACAGGGTTGGGATTTAAATCCCAGCTCCACAGGACAATGACCTTGGCCCGTGGCCCATCCTCTCTGGCCTCCATCTCCTCATCTGTCAAACCGAAAAGATAACAGGACTCTTCACTGGGCTGCTGTGGGGATCAAATGAGGTGACAGGTGTGAACCACTTGGCCTGGCCCAGAGATAAGCTCAATGACCGTCATGGGCTGCTGCCTATGTTGTCGTGATACTTCCAATCAGCCAATCCGGGGCACTGGCCTCATCCACAGGACATCTCTCTCTGAACAAGCACCACAGGCTCGATGGTTCTGTGCAGAGCCTCGCCTGGGATGGAGCACTGCTTCTGTCCCGGCTCTGCCCCCTGCTAGCTGTTATTAGTGCAAGTCCCTTAGCCTCTCTGATCCTCACCTATAAAAGGGGCACAGTTACCCTGGCCTCAGAGGGCTAGTGTGGGGGTTAAATGAGAGAAGGTCCTCATCCCCCACTCTCCTCTGCATTGAGACTGTGGACCCCAAACCTGTTTGGGAGCAAGTGAGCATCCAACATTGGCAGCCCCTGCCCAGCACTCCGCTTCATCCTCCCTCCCAGCAAGTGAGCAGCAGGCCAGGTGGTAGTGGAGGTAACAAGCCACCTGTACCTCTGCATAACCTCGGATGCTGCGGGACTGAGGCTCCTTCCTCCGGCTGAGTCAGAACGAGGGGAGGGAGGCCACTGTCCTGCAGAGGCCCCGCTCCCACCCCGCCCACAGTACTGCCTTGCTAAGCACCCATTGCTTAGGAAACTCCCTGAGGAAAAAATAAAGTTGGACCCCTACCTCACACAACACACAAAAATCAATTCAAAACAGATCAAATACCTAAGTTCAGAGCTAAAACTACACAACTCGTAGAAGGAAACATAGGAGTAAATCTTCAAAACACTGAATTAAAGCAACACTAAATTAATGGTTTCTTGGATACAACACCCGAAGCACAAGAAACAAAAGAAAAAAACAATAAATTGAACTTTATCAAAAAAGTAAAAAGACAACTCGCAGAATGGGAGAAAATTTTTACAAATCGTATGTCTGATAAAAAGTTTGTATTTAGAGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTGTACTAAAAATGCATATAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAATGTATTCAGAGGCCAGGCGCCGTGGCTCATGCCTGTAATACCAACACTTTGGCAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGA
|
CACGTTCTCAGGAATCTCCAGCCCAATTGCCAAAGCAAGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCCCGAGGCTCTGAAAAGGAACCTATTTTCCCTGCCCTGCAACAGGGTGTTTTTCCTCCTCCTTCAATGTGTGCTTCCGAAGCCCACACATCCCTCCCGCTCTTGTCTGCCTACAGCTTGGACTTCTCCTCCTCCTTCCTCACTTCCGGGCTTGTCTTGCTTCTCCAGCCTCTTCACCATGCATGAGGGCATTCCTGATCACACTCCAGCTATGGGGGACCCCATTCCTGCAATCCAGCAGTTTCCAAACACGGGTGCACACTGGAGGCACCTGGAGAGCGTCTAACACCTCCTGCTGCTTGGGCTTTATTCTAGAAACCAATTCAGGGGACTCTCTGGGGGTGGGGCCTGAGCTACTTCATTTTAGAAGCACATTACGTGGTTCTGATGTATAGCCAGGTTCTTAGTTCCTGGGCAAATCTATTTCACTTTGGTACTATGGTGAAAACGTGTATGAAACAGTGCTTGCCCAATTATTTTCCTTAATCTTGACACAAGTGGTCACTTCATGGAACCATCACCATAATCCCGTTTTAGAACAGTTCTCAAAGAATTTCTGTATACTCACATCAAGATTTGGAGAACAATCATCACCAAATTCTAACCTCTCAACTAGTGTGAATCTCCTACGAGGTGGCTGATGAATTTCATTAGTCTAGGCCTCAGTGCTTATGCTCGTCCATGCCTTTTAATTTTGTTCTGGTTCTGCCACTCACTAGCATGTGACCCTGACAAATCATTTCACCTCACCAGAGTCTGTTTCCTCACCAGAAAAATGGAACAATAGGAATGTCCACTCCTCAGGGTTATGAGGAATGGAGATCAGAGACGGGGAGCCCAAATGCCTTTCAGCCAGATCTTTCAAGGAGACAGAGGTGTGTGGGCAGAGCCTTCCCACCACCAGCCCACATGCTACTAAGAGACAAGTCTGGGTTTCAGTCAACTTAGCCTAAACTTCAGGCTGAGTTGGGAATGAAGTTTGGGAACTTTGGGAATGAAGTTTGGGAACAGATTTCCAAAGCCTTTCTGCAGGGCACTGCATTTGCACATGAACCTCTTCTCAGTAAATACCGGCCTCTCTAGCCCCTCAGATTCCTGGGAGATCAGATGGTTTGACTGTCTAATGCTGCAGCTGCATCTTTGAGGGAAAGCAAGTCTTTCTATATTTGAACCACAGTTGTCCATGGCTCACAAGCAGGAACTTCACGGTCCTTTTTATAGAATGAATAAACCTACTTTATATAGAGCAAATTTTCTGATTCATAGCAGGTTTGTGGGTTATCAGAGGTGGGCATACCTGTCTCCTCCCTGAACACAGCTTTGCACTTAAAATGACACACAGCAACCATACACTCAGTAAGCACAGGTAGTCAGTGTGGTTTATTTGACTTCCTTCCTGCTGGGCACAGGAAGCTCTCACAGGGCTAGGGTTTAAGCTGGCTTCCACAGAGGGCAGTCACGTGCACGTGGGCCTGAGGCCAGCCCCAGGTCAGGTCCCGATCCCCGGTCCTCAGGTGCTTCCACTCAGGCTTGAGGCAGGAGTCTGACGGCAGCAGCTCCCGAGAGCCCTTGCCGATGCCTGGCTCCATCCAGAGCCAGCCCAGCCCAGGGAGGCTGCATGGGGCCAGCGCTAGGTGGCTGACTCAGCAGCAGCCATGGGGCTGGAGAGCCTTCCTGATGCCAGTGGCCAGGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAGGGCCCTGGGCGGCCAGCGCGCGAGCCGTAGTGGGGCCGATGGCTGCAAACTATAAAGACAGAAGAGAAAACAGGGCTTCAGCACACCAGGAGGGGCTGGGGCAGCAGGCAGCTGGATGTGTGCAGGGGCCGTCAGCCAGCTTTGCGGTTGGACGTTACTGCTCATGTGACGTGTTTATAAAAATGACAACACTGCCCGATTCTAGCCCAGCTTCTGAGCGTGCAAAATACCTCTGCATCCACGCTCTCATCAGTCTGCCACCCTGAGCGACTGTCGCCAGGCTCAGGTGAGGGGCAGGGACTTGAAGGCCCCAGGCTGGTGCTCACCATCACGGCTGTGTCAGTGCAGTCCTTCCTCAGAGGCTCTAGCTGCAGACAGTTCTTCTTCGGGTGTTGGGGGCCCTGGGTCTGATCAAGGGGAGGATGGTGTGGCAGGGGCAGTGACTGAATCCCCAAGAAAGTAGAGCCATCAAGGTCAGGGCTCTGTGGGCACAGGGTTGGGATTTAAATCCCAGCTCCACAGGACAATGACCTTGGCCCGTGGCCCATCCTCTCTGGCCTCCATCTCCTCATCTGTCAAACCGAAAAGATAACAGGACTCTTCACTGGGCTGCTGTGGGGATCAAATGAGGTGACAGGTGTGAACCACTTGGCCTGGCCCAGAGATAAGCTCAATGACCGTCATGGGCTGCTGCCTATGTTGTCGTGATACTTCCAATCAGCCAATCCGGGGCACTGGCCTCATCCACAGGACATCTCTCTCTGAACAAGCACCACAGGCTCGATGGTTCTGTGCAGAGCCTCGCCTGGGATGGAGCACTGCTTCTGTCCCGGCTCTGCCCCCTGCTAGCTGTTATTAGTGCAAGTCCCTTAGCCTCTCTGATCCTCACCTATAAAAGGGGCACAGTTACCCTGGCCTCAGAGGGCTAGTGTGGGGGTTAAATGAGAGAAGGTCCTCATCCCCCACTCTCCTCTGCATTGAGACTGTGGACCCCAAACCTGTTTGGGAGCAAGTGAGCATCCAACATTGGCAGCCCCTGCCCAGCACTCCGCTTCATCCTCCCTCCCAGCAAGTGAGCAGCAGGCCAGGTGGTAGTGGAGGTAACAAGCCACCTGTACCTCTGCATAACCTCGGATGCTGCGGGACTGAGGCTCCTTCCTCCGGCTGAGTCAGAACGAGGGGAGGGAGGCCACTGTCCTGCAGAGGCCCCGCTCCCACCCCGCCCACAGTACTGCCTTGCTAAGCACCCATTGCTTAGGAAACTCCCTGAGGAAAAAATAAAGTTGGACCCCTACCTCACACAACACACAAAAATCAATTCAAAACAGATCAAATACCTAAGTTCAGAGCTAAAACTACACAACTCGTAGAAGGAAACATAGGAGTAAATCTTCAAAACACTGAATTAAAGCAACACTAAATTAATGGTTTCTTGGATACAACACCCGAAGCACAAGAAACAAAAGAAAAAAACAATAAATTGAACTTTATCAAAAAAGTAAAAAGACAACTCGCAGAATGGGAGAAAATTTTTACAAATCGTATGTCTGATAAAAAGTTTGTATTTAGAGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTGTACTAAAAATGCATATAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAATGTATTCAGAGGCCAGGCGCCGTGGCTCATGCCTGTAATACCAACACTTTGGCAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGA
|
Task1_train_14702
|
Gene UROS (uroporphyrinogen III synthase), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Cutaneous porphyria
|
AGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCCCGAGGCTCTGAAAAGGAACCTATTTTCCCTGCCCTGCAACAGGGTGTTTTTCCTCCTCCTTCAATGTGTGCTTCCGAAGCCCACACATCCCTCCCGCTCTTGTCTGCCTACAGCTTGGACTTCTCCTCCTCCTTCCTCACTTCCGGGCTTGTCTTGCTTCTCCAGCCTCTTCACCATGCATGAGGGCATTCCTGATCACACTCCAGCTATGGGGGACCCCATTCCTGCAATCCAGCAGTTTCCAAACACGGGTGCACACTGGAGGCACCTGGAGAGCGTCTAACACCTCCTGCTGCTTGGGCTTTATTCTAGAAACCAATTCAGGGGACTCTCTGGGGGTGGGGCCTGAGCTACTTCATTTTAGAAGCACATTACGTGGTTCTGATGTATAGCCAGGTTCTTAGTTCCTGGGCAAATCTATTTCACTTTGGTACTATGGTGAAAACGTGTATGAAACAGTGCTTGCCCAATTATTTTCCTTAATCTTGACACAAGTGGTCACTTCATGGAACCATCACCATAATCCCGTTTTAGAACAGTTCTCAAAGAATTTCTGTATACTCACATCAAGATTTGGAGAACAATCATCACCAAATTCTAACCTCTCAACTAGTGTGAATCTCCTACGAGGTGGCTGATGAATTTCATTAGTCTAGGCCTCAGTGCTTATGCTCGTCCATGCCTTTTAATTTTGTTCTGGTTCTGCCACTCACTAGCATGTGACCCTGACAAATCATTTCACCTCACCAGAGTCTGTTTCCTCACCAGAAAAATGGAACAATAGGAATGTCCACTCCTCAGGGTTATGAGGAATGGAGATCAGAGACGGGGAGCCCAAATGCCTTTCAGCCAGATCTTTCAAGGAGACAGAGGTGTGTGGGCAGAGCCTTCCCACCACCAGCCCACATGCTACTAAGAGACAAGTCTGGGTTTCAGTCAACTTAGCCTAAACTTCAGGCTGAGTTGGGAATGAAGTTTGGGAACTTTGGGAATGAAGTTTGGGAACAGATTTCCAAAGCCTTTCTGCAGGGCACTGCATTTGCACATGAACCTCTTCTCAGTAAATACCGGCCTCTCTAGCCCCTCAGATTCCTGGGAGATCAGATGGTTTGACTGTCTAATGCTGCAGCTGCATCTTTGAGGGAAAGCAAGTCTTTCTATATTTGAACCACAGTTGTCCATGGCTCACAAGCAGGAACTTCACGGTCCTTTTTATAGAATGAATAAACCTACTTTATATAGAGCAAATTTTCTGATTCATAGCAGGTTTGTGGGTTATCAGAGGTGGGCATACCTGTCTCCTCCCTGAACACAGCTTTGCACTTAAAATGACACACAGCAACCATACACTCAGTAAGCACAGGTAGTCAGTGTGGTTTATTTGACTTCCTTCCTGCTGGGCACAGGAAGCTCTCACAGGGCTAGGGTTTAAGCTGGCTTCCACAGAGGGCAGTCACGTGCACGTGGGCCTGAGGCCAGCCCCAGGTCAGGTCCCGATCCCCGGTCCTCAGGTGCTTCCACTCAGGCTTGAGGCAGGAGTCTGACGGCAGCAGCTCCCGAGAGCCCTTGCCGATGCCTGGCTCCATCCAGAGCCAGCCCAGCCCAGGGAGGCTGCATGGGGCCAGCGCTAGGTGGCTGACTCAGCAGCAGCCATGGGGCTGGAGAGCCTTCCTGATGCCAGTGGCCAGGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGCGCGCGAGCCGTAGTGGGGCCGATGGCTGCAAACTATAAAGACAGAAGAGAAAACAGGGCTTCAGCACACCAGGAGGGGCTGGGGCAGCAGGCAGCTGGATGTGTGCAGGGGCCGTCAGCCAGCTTTGCGGTTGGACGTTACTGCTCATGTGACGTGTTTATAAAAATGACAACACTGCCCGATTCTAGCCCAGCTTCTGAGCGTGCAAAATACCTCTGCATCCACGCTCTCATCAGTCTGCCACCCTGAGCGACTGTCGCCAGGCTCAGGTGAGGGGCAGGGACTTGAAGGCCCCAGGCTGGTGCTCACCATCACGGCTGTGTCAGTGCAGTCCTTCCTCAGAGGCTCTAGCTGCAGACAGTTCTTCTTCGGGTGTTGGGGGCCCTGGGTCTGATCAAGGGGAGGATGGTGTGGCAGGGGCAGTGACTGAATCCCCAAGAAAGTAGAGCCATCAAGGTCAGGGCTCTGTGGGCACAGGGTTGGGATTTAAATCCCAGCTCCACAGGACAATGACCTTGGCCCGTGGCCCATCCTCTCTGGCCTCCATCTCCTCATCTGTCAAACCGAAAAGATAACAGGACTCTTCACTGGGCTGCTGTGGGGATCAAATGAGGTGACAGGTGTGAACCACTTGGCCTGGCCCAGAGATAAGCTCAATGACCGTCATGGGCTGCTGCCTATGTTGTCGTGATACTTCCAATCAGCCAATCCGGGGCACTGGCCTCATCCACAGGACATCTCTCTCTGAACAAGCACCACAGGCTCGATGGTTCTGTGCAGAGCCTCGCCTGGGATGGAGCACTGCTTCTGTCCCGGCTCTGCCCCCTGCTAGCTGTTATTAGTGCAAGTCCCTTAGCCTCTCTGATCCTCACCTATAAAAGGGGCACAGTTACCCTGGCCTCAGAGGGCTAGTGTGGGGGTTAAATGAGAGAAGGTCCTCATCCCCCACTCTCCTCTGCATTGAGACTGTGGACCCCAAACCTGTTTGGGAGCAAGTGAGCATCCAACATTGGCAGCCCCTGCCCAGCACTCCGCTTCATCCTCCCTCCCAGCAAGTGAGCAGCAGGCCAGGTGGTAGTGGAGGTAACAAGCCACCTGTACCTCTGCATAACCTCGGATGCTGCGGGACTGAGGCTCCTTCCTCCGGCTGAGTCAGAACGAGGGGAGGGAGGCCACTGTCCTGCAGAGGCCCCGCTCCCACCCCGCCCACAGTACTGCCTTGCTAAGCACCCATTGCTTAGGAAACTCCCTGAGGAAAAAATAAAGTTGGACCCCTACCTCACACAACACACAAAAATCAATTCAAAACAGATCAAATACCTAAGTTCAGAGCTAAAACTACACAACTCGTAGAAGGAAACATAGGAGTAAATCTTCAAAACACTGAATTAAAGCAACACTAAATTAATGGTTTCTTGGATACAACACCCGAAGCACAAGAAACAAAAGAAAAAAACAATAAATTGAACTTTATCAAAAAAGTAAAAAGACAACTCGCAGAATGGGAGAAAATTTTTACAAATCGTATGTCTGATAAAAAGTTTGTATTTAGAGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTGTACTAAAAATGCATATAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAATGTATTCAGAGGCCAGGCGCCGTGGCTCATGCCTGTAATACCAACACTTTGGCAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCCCAGAGGCGGAGGTTGCAGTGAGCC
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AGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCCCGAGGCTCTGAAAAGGAACCTATTTTCCCTGCCCTGCAACAGGGTGTTTTTCCTCCTCCTTCAATGTGTGCTTCCGAAGCCCACACATCCCTCCCGCTCTTGTCTGCCTACAGCTTGGACTTCTCCTCCTCCTTCCTCACTTCCGGGCTTGTCTTGCTTCTCCAGCCTCTTCACCATGCATGAGGGCATTCCTGATCACACTCCAGCTATGGGGGACCCCATTCCTGCAATCCAGCAGTTTCCAAACACGGGTGCACACTGGAGGCACCTGGAGAGCGTCTAACACCTCCTGCTGCTTGGGCTTTATTCTAGAAACCAATTCAGGGGACTCTCTGGGGGTGGGGCCTGAGCTACTTCATTTTAGAAGCACATTACGTGGTTCTGATGTATAGCCAGGTTCTTAGTTCCTGGGCAAATCTATTTCACTTTGGTACTATGGTGAAAACGTGTATGAAACAGTGCTTGCCCAATTATTTTCCTTAATCTTGACACAAGTGGTCACTTCATGGAACCATCACCATAATCCCGTTTTAGAACAGTTCTCAAAGAATTTCTGTATACTCACATCAAGATTTGGAGAACAATCATCACCAAATTCTAACCTCTCAACTAGTGTGAATCTCCTACGAGGTGGCTGATGAATTTCATTAGTCTAGGCCTCAGTGCTTATGCTCGTCCATGCCTTTTAATTTTGTTCTGGTTCTGCCACTCACTAGCATGTGACCCTGACAAATCATTTCACCTCACCAGAGTCTGTTTCCTCACCAGAAAAATGGAACAATAGGAATGTCCACTCCTCAGGGTTATGAGGAATGGAGATCAGAGACGGGGAGCCCAAATGCCTTTCAGCCAGATCTTTCAAGGAGACAGAGGTGTGTGGGCAGAGCCTTCCCACCACCAGCCCACATGCTACTAAGAGACAAGTCTGGGTTTCAGTCAACTTAGCCTAAACTTCAGGCTGAGTTGGGAATGAAGTTTGGGAACTTTGGGAATGAAGTTTGGGAACAGATTTCCAAAGCCTTTCTGCAGGGCACTGCATTTGCACATGAACCTCTTCTCAGTAAATACCGGCCTCTCTAGCCCCTCAGATTCCTGGGAGATCAGATGGTTTGACTGTCTAATGCTGCAGCTGCATCTTTGAGGGAAAGCAAGTCTTTCTATATTTGAACCACAGTTGTCCATGGCTCACAAGCAGGAACTTCACGGTCCTTTTTATAGAATGAATAAACCTACTTTATATAGAGCAAATTTTCTGATTCATAGCAGGTTTGTGGGTTATCAGAGGTGGGCATACCTGTCTCCTCCCTGAACACAGCTTTGCACTTAAAATGACACACAGCAACCATACACTCAGTAAGCACAGGTAGTCAGTGTGGTTTATTTGACTTCCTTCCTGCTGGGCACAGGAAGCTCTCACAGGGCTAGGGTTTAAGCTGGCTTCCACAGAGGGCAGTCACGTGCACGTGGGCCTGAGGCCAGCCCCAGGTCAGGTCCCGATCCCCGGTCCTCAGGTGCTTCCACTCAGGCTTGAGGCAGGAGTCTGACGGCAGCAGCTCCCGAGAGCCCTTGCCGATGCCTGGCTCCATCCAGAGCCAGCCCAGCCCAGGGAGGCTGCATGGGGCCAGCGCTAGGTGGCTGACTCAGCAGCAGCCATGGGGCTGGAGAGCCTTCCTGATGCCAGTGGCCAGGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGCGCGCGAGCCGTAGTGGGGCTGATGGCTGCAAACTATAAAGACAGAAGAGAAAACAGGGCTTCAGCACACCAGGAGGGGCTGGGGCAGCAGGCAGCTGGATGTGTGCAGGGGCCGTCAGCCAGCTTTGCGGTTGGACGTTACTGCTCATGTGACGTGTTTATAAAAATGACAACACTGCCCGATTCTAGCCCAGCTTCTGAGCGTGCAAAATACCTCTGCATCCACGCTCTCATCAGTCTGCCACCCTGAGCGACTGTCGCCAGGCTCAGGTGAGGGGCAGGGACTTGAAGGCCCCAGGCTGGTGCTCACCATCACGGCTGTGTCAGTGCAGTCCTTCCTCAGAGGCTCTAGCTGCAGACAGTTCTTCTTCGGGTGTTGGGGGCCCTGGGTCTGATCAAGGGGAGGATGGTGTGGCAGGGGCAGTGACTGAATCCCCAAGAAAGTAGAGCCATCAAGGTCAGGGCTCTGTGGGCACAGGGTTGGGATTTAAATCCCAGCTCCACAGGACAATGACCTTGGCCCGTGGCCCATCCTCTCTGGCCTCCATCTCCTCATCTGTCAAACCGAAAAGATAACAGGACTCTTCACTGGGCTGCTGTGGGGATCAAATGAGGTGACAGGTGTGAACCACTTGGCCTGGCCCAGAGATAAGCTCAATGACCGTCATGGGCTGCTGCCTATGTTGTCGTGATACTTCCAATCAGCCAATCCGGGGCACTGGCCTCATCCACAGGACATCTCTCTCTGAACAAGCACCACAGGCTCGATGGTTCTGTGCAGAGCCTCGCCTGGGATGGAGCACTGCTTCTGTCCCGGCTCTGCCCCCTGCTAGCTGTTATTAGTGCAAGTCCCTTAGCCTCTCTGATCCTCACCTATAAAAGGGGCACAGTTACCCTGGCCTCAGAGGGCTAGTGTGGGGGTTAAATGAGAGAAGGTCCTCATCCCCCACTCTCCTCTGCATTGAGACTGTGGACCCCAAACCTGTTTGGGAGCAAGTGAGCATCCAACATTGGCAGCCCCTGCCCAGCACTCCGCTTCATCCTCCCTCCCAGCAAGTGAGCAGCAGGCCAGGTGGTAGTGGAGGTAACAAGCCACCTGTACCTCTGCATAACCTCGGATGCTGCGGGACTGAGGCTCCTTCCTCCGGCTGAGTCAGAACGAGGGGAGGGAGGCCACTGTCCTGCAGAGGCCCCGCTCCCACCCCGCCCACAGTACTGCCTTGCTAAGCACCCATTGCTTAGGAAACTCCCTGAGGAAAAAATAAAGTTGGACCCCTACCTCACACAACACACAAAAATCAATTCAAAACAGATCAAATACCTAAGTTCAGAGCTAAAACTACACAACTCGTAGAAGGAAACATAGGAGTAAATCTTCAAAACACTGAATTAAAGCAACACTAAATTAATGGTTTCTTGGATACAACACCCGAAGCACAAGAAACAAAAGAAAAAAACAATAAATTGAACTTTATCAAAAAAGTAAAAAGACAACTCGCAGAATGGGAGAAAATTTTTACAAATCGTATGTCTGATAAAAAGTTTGTATTTAGAGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTGTACTAAAAATGCATATAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAATGTATTCAGAGGCCAGGCGCCGTGGCTCATGCCTGTAATACCAACACTTTGGCAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCCCAGAGGCGGAGGTTGCAGTGAGCC
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Task1_train_14703
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This alteration occurs within gene UROS (uroporphyrinogen III synthase) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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CAGCGCCAAGTCCCAGTGTCGAGGGACAACTCACAACCCACACACAGTGCCTTCGTGGCCCCCAAGCAGTCCATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATCTTTTGTTCTTCCTCTAGGCAAACACTAAGAAGCTTGGGGAAAACTGTGTTAGGCTTATACCACCAGGCATCTCACAGCATTGTGTGACTTGGGGGTGGGTGGGTGGGGTGGAGGTGGGGACTCCTCCTACAGGCCCAGGGGAGAGGCAGCAGGGCACAGAGGGACAAGAACCAGAGCAGGACCAGCACCGTGACCCATCCTGACCTGCAATATGACGTAAGCGCTGGTCATATGGACCAGTTGCCATGCTAAGCACTTTATGGGTCCTATCTCTTTAATTTTTCTTTTTCTTTCTTTTTTTCTTTTATGGGGCAGGTACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCCGTGGCGCGATCTCGGCTCACTGCAACCTCAGTCTCCAGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCATGTAGCTGGGATTATAGGCGCATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAAAGACGGGGTTTTCATCATATTGGACAGGCTGGTCTGGAACACCTGACCTCAGGTGATCCGCCTGAGGCCTCCCAAAGTGCTGGGATTCCAGGTGGGAGCCACAGCGCCCGGCCTCTCTCTAATCTTTCTAACCACAAGATTCAGATATTGTTTTTCTTCCTCGGTGACCTGTGTGAGTCCTGGGCCTTCTAGGAACTCAAAACATGACTTTGGCAAGTTGTTTCACCTCTCTAGCCCTCAGTGTCCTCACCTGTAATGAGGAACACTGACCTCTTTTTCTGGATACCCACCACTGGACTGGTGTGAGAATTGTATCAGTTACTGCCCAGAAGTGCATCAACTGCTCAGCAGCTCCTGAGACCATGGCAAGGCATCACCATGGCTGACAATGTGGAATCAGTCTTCCCAGGTTCAACTGCAGCTCTTCCTTCTCAGCAGTGTGACCTACAGACAGGCCATATGATGTCTCTGAGCCCCGTGCTCCATCTTTAAAACTGGGAGAGCGGTGCATACTCCCCACATGAGATGCACCTGTGAGAAGGCAGGTGAAGCCTTTTGCTCTTCCTGACTGCAGTGAGTGGCAGTGTCTGTCCTTGGGCTCTGGGTCACATCCTGCACCCTCTCCTCAGTCCCTCTGGAGCCAGTTCAAGGGTGTTTCTATTACAGACACAAGAGTTGTGGTTATTTGTAGACTCATAATAAATACAGTCCCTAGTAAGTGAGAATGTAAACCCTTTAAAAGATATGAAAAAGGTGACTGCTTTTAGAATAGACAATAATGGCAAACATAAGATGGGGGAAAGGAAGGAAAGGATGTTAACACCTGTACCAAGCCCTGAGCTAATTCAGGACTTTACTCAAATTCCCTCATGTAATCCTGAGACTCATCCTAAGCAGGGAAGACCATACACATGTCTATGAAAGCCACAGAGAGACAATTATCCCCATGCTGCAAGTGAGGAAACGGGCTGGGAGAAGGTGAGCAATCTGTGCAACAGCCCAGCAGGAGGTAGAGCTGCCCTTCCAATTCTAAGGCACCTGCTAGGCCAGGGGTGTCTCACTTGACATTGAAGCCCTAGGATAATTCATAAAGATTAAAAAAAAAAAAAAGAATCTGAAAAAGACCAAAAGCTCATTGAATAACTTACCTTAATTTGATCGATATTGTCACCAGATAACTCCTGAATGTGCTTGAGACTGTATGTGAGGCCAGAGGGACTAAAAAATGTGATGCTGGCTGGAACCCCCTGTGGGGAACAGAAAACAAGATCAGTCCTTGCCATGAGACTGAGGAGAGACAACATTCCTCCGGCTTCATCCGCATCAAGACCTCAAGCCACAGGCCACCAAGGCGGTTTTAGCACAGGAGTGGTTCCCGGCTGATGCTGGCATCCTCTGCTCCAGTGAGGCAGGATTCTGGTAGGGAACTGTTGGAAAGAGCAGGCTGCCATCAGAAAGCTGGTGCTGCCCCAGGTCTGTGTCTGCCTGGCCAGAGGACATGGGCATCCCGGAGCTCATGTGCCCAGCAGCCTAGACAATGCCTCTAGCTCCTGTGGTCATACGGCACTGATCACATGAGGCAGTGGTGTGAGGCAGTGCTGGCTCCCTGTCAATGCTCCCTCCCTCTGGAAGCAGAGCAAGCAGACAAGCCTGCCTGGCCTTTTTGCATTTGGTTTGTCCTATCAGGCCCTCCCAATACCAGGCAAGACATTCAGAAGCTTGCCCTGGGAGAGGAAAGGGAGGTGTTTTACTGCATATAAATGCTGAAGACATCAAGGAACTCAAGCAAGAGCTATCCATTCTCCTGCCTGAGTCCTCCAACAGTCCCCACGGACTCCCAAATTCAATCCAGACTCCTTGGTGGCCACTGTCAGCTCTTCCCACTATGGGCTCAGCCTCCCTCTCCAGTGTCTGCCCCTCCAGCTCCACCAGCATCCCCGTATGATGAATAGCAATGATAACATCAAGGCCACTATTTACCTCAGGGTTGTATGTATCTTCGATGCTGTACAAAAAGCTTTGCGTAAATTATCTCCTTTAACCCCTATAAAAACTTACCACTTCCTCAAAGTCACCACATTAATCTCTCCAAAGAGGGAGATTTCATAGACCACCTACTACAAGCACCTCTTACCGAAATCACTGATTTCAAACCAGCTTGCAATAGACATTTCATGAAACAACCACAAAATTGTTTCCATTCCTAATTCTAGAATCCCAGACCAACTATGTGACAGGAAAAGGCATGCAGGTGACAGCTGGGGACAGTGAAACCACATATAGAACCAACATCTATCAGCTCGTGCCCTTCACCCTCTGCTTCCCCACCTGGGCACCCACCCTGCCAGAACCGCCCCCAAACGCCACGTACCTGCTGGGAATAGTAGCTGTTCAGGTTCCCTTGGATTCCTGGGTGTGCAACTGTCTGATACACAGTTATGCTTTCCATGGCAATCCCTGGGCACAATCAAAAGCAGGAAAGACTTTACCGCACTGGGCACACAATGGGGCCTCCACCACTTCACAGCACAGTTGGTGAAACCTCCCAATACAGCACCACCCTCCTGGAACGAGCTGCTTGGAAGCTGAGAGGCCAGACTCAGCAGAGAGGCCTTGAACAGTCCTCTGCAGCCTGCTAAACGCTGTGGAGTGGTCCGGTGGAAGAGGAGGCTGAGACGGCAGAAAAAGAACAAAGGCCCAGAAACCAAAGCCTTCATTTGTACCCAGAATGCCTTTTGTTCCCAGGCTTATGTAGGTTTGTCCACACAAGGCCGTCCCTAGTCACTCCATGGATCCCACACAGACTGGTTGCATGACACCAGCAAGTGTAGGAAGGGCAGCTCTTGGGAGAGGCCTGGAGTCCAGATCCCCGGCTGCACTCCAGCTGTGCCTCCACATGGCCACGCGTCCCCTCTCTGGGCCTCAGTGTGTCCACTTGTACAAGAACTGATTAAGCCGTGGACTTTCCCACATTCCTCCCTGTGCCATTCAGCGACTCTGAATATTCCCAGGGGTTTTCAGGGCTGGTGATGAGGCGCTAGGCACTGAAGGGACTCACGCAATTTCAGTCAGATATTGACTTATGAGGGGCAGCCAGATGGTAGGTGAAAAGTAGTGAAAACTCAGGCTTCTGAAAATAAAATGGGAAACTCTCTCAGAAGAAATGATAACTTCAGCATAAAACAGCAACCTATTGCCATTTCATATCCCTGAAAACTAAAG
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CAGCGCCAAGTCCCAGTGTCGAGGGACAACTCACAACCCACACACAGTGCCTTCGTGGCCCCCAAGCAGTCCATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATCTTTTGTTCTTCCTCTAGGCAAACACTAAGAAGCTTGGGGAAAACTGTGTTAGGCTTATACCACCAGGCATCTCACAGCATTGTGTGACTTGGGGGTGGGTGGGTGGGGTGGAGGTGGGGACTCCTCCTACAGGCCCAGGGGAGAGGCAGCAGGGCACAGAGGGACAAGAACCAGAGCAGGACCAGCACCGTGACCCATCCTGACCTGCAATATGACGTAAGCGCTGGTCATATGGACCAGTTGCCATGCTAAGCACTTTATGGGTCCTATCTCTTTAATTTTTCTTTTTCTTTCTTTTTTTCTTTTATGGGGCAGGTACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCCGTGGCGCGATCTCGGCTCACTGCAACCTCAGTCTCCAGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCATGTAGCTGGGATTATAGGCGCATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAAAGACGGGGTTTTCATCATATTGGACAGGCTGGTCTGGAACACCTGACCTCAGGTGATCCGCCTGAGGCCTCCCAAAGTGCTGGGATTCCAGGTGGGAGCCACAGCGCCCGGCCTCTCTCTAATCTTTCTAACCACAAGATTCAGATATTGTTTTTCTTCCTCGGTGACCTGTGTGAGTCCTGGGCCTTCTAGGAACTCAAAACATGACTTTGGCAAGTTGTTTCACCTCTCTAGCCCTCAGTGTCCTCACCTGTAATGAGGAACACTGACCTCTTTTTCTGGATACCCACCACTGGACTGGTGTGAGAATTGTATCAGTTACTGCCCAGAAGTGCATCAACTGCTCAGCAGCTCCTGAGACCATGGCAAGGCATCACCATGGCTGACAATGTGGAATCAGTCTTCCCAGGTTCAACTGCAGCTCTTCCTTCTCAGCAGTGTGACCTACAGACAGGCCATATGATGTCTCTGAGCCCCGTGCTCCATCTTTAAAACTGGGAGAGCGGTGCATACTCCCCACATGAGATGCACCTGTGAGAAGGCAGGTGAAGCCTTTTGCTCTTCCTGACTGCAGTGAGTGGCAGTGTCTGTCCTTGGGCTCTGGGTCACATCCTGCACCCTCTCCTCAGTCCCTCTGGAGCCAGTTCAAGGGTGTTTCTATTACAGACACAAGAGTTGTGGTTATTTGTAGACTCATAATAAATACAGTCCCTAGTAAGTGAGAATGTAAACCCTTTAAAAGATATGAAAAAGGTGACTGCTTTTAGAATAGACAATAATGGCAAACATAAGATGGGGGAAAGGAAGGAAAGGATGTTAACACCTGTACCAAGCCCTGAGCTAATTCAGGACTTTACTCAAATTCCCTCATGTAATCCTGAGACTCATCCTAAGCAGGGAAGACCATACACATGTCTATGAAAGCCACAGAGAGACAATTATCCCCATGCTGCAAGTGAGGAAACGGGCTGGGAGAAGGTGAGCAATCTGTGCAACAGCCCAGCAGGAGGTAGAGCTGCCCTTCCAATTCTAAGGCACCTGCTAGGCCAGGGGTGTCTCACTTGACATTGAAGCCCTAGGATAATTCATAAAGATTAAAAAAAAAAAAAAGAATCTGAAAAAGACCAAAAGCTCATTGAATAACTTACCTTAATTTGATCGATATTGTCACCAGGTAACTCCTGAATGTGCTTGAGACTGTATGTGAGGCCAGAGGGACTAAAAAATGTGATGCTGGCTGGAACCCCCTGTGGGGAACAGAAAACAAGATCAGTCCTTGCCATGAGACTGAGGAGAGACAACATTCCTCCGGCTTCATCCGCATCAAGACCTCAAGCCACAGGCCACCAAGGCGGTTTTAGCACAGGAGTGGTTCCCGGCTGATGCTGGCATCCTCTGCTCCAGTGAGGCAGGATTCTGGTAGGGAACTGTTGGAAAGAGCAGGCTGCCATCAGAAAGCTGGTGCTGCCCCAGGTCTGTGTCTGCCTGGCCAGAGGACATGGGCATCCCGGAGCTCATGTGCCCAGCAGCCTAGACAATGCCTCTAGCTCCTGTGGTCATACGGCACTGATCACATGAGGCAGTGGTGTGAGGCAGTGCTGGCTCCCTGTCAATGCTCCCTCCCTCTGGAAGCAGAGCAAGCAGACAAGCCTGCCTGGCCTTTTTGCATTTGGTTTGTCCTATCAGGCCCTCCCAATACCAGGCAAGACATTCAGAAGCTTGCCCTGGGAGAGGAAAGGGAGGTGTTTTACTGCATATAAATGCTGAAGACATCAAGGAACTCAAGCAAGAGCTATCCATTCTCCTGCCTGAGTCCTCCAACAGTCCCCACGGACTCCCAAATTCAATCCAGACTCCTTGGTGGCCACTGTCAGCTCTTCCCACTATGGGCTCAGCCTCCCTCTCCAGTGTCTGCCCCTCCAGCTCCACCAGCATCCCCGTATGATGAATAGCAATGATAACATCAAGGCCACTATTTACCTCAGGGTTGTATGTATCTTCGATGCTGTACAAAAAGCTTTGCGTAAATTATCTCCTTTAACCCCTATAAAAACTTACCACTTCCTCAAAGTCACCACATTAATCTCTCCAAAGAGGGAGATTTCATAGACCACCTACTACAAGCACCTCTTACCGAAATCACTGATTTCAAACCAGCTTGCAATAGACATTTCATGAAACAACCACAAAATTGTTTCCATTCCTAATTCTAGAATCCCAGACCAACTATGTGACAGGAAAAGGCATGCAGGTGACAGCTGGGGACAGTGAAACCACATATAGAACCAACATCTATCAGCTCGTGCCCTTCACCCTCTGCTTCCCCACCTGGGCACCCACCCTGCCAGAACCGCCCCCAAACGCCACGTACCTGCTGGGAATAGTAGCTGTTCAGGTTCCCTTGGATTCCTGGGTGTGCAACTGTCTGATACACAGTTATGCTTTCCATGGCAATCCCTGGGCACAATCAAAAGCAGGAAAGACTTTACCGCACTGGGCACACAATGGGGCCTCCACCACTTCACAGCACAGTTGGTGAAACCTCCCAATACAGCACCACCCTCCTGGAACGAGCTGCTTGGAAGCTGAGAGGCCAGACTCAGCAGAGAGGCCTTGAACAGTCCTCTGCAGCCTGCTAAACGCTGTGGAGTGGTCCGGTGGAAGAGGAGGCTGAGACGGCAGAAAAAGAACAAAGGCCCAGAAACCAAAGCCTTCATTTGTACCCAGAATGCCTTTTGTTCCCAGGCTTATGTAGGTTTGTCCACACAAGGCCGTCCCTAGTCACTCCATGGATCCCACACAGACTGGTTGCATGACACCAGCAAGTGTAGGAAGGGCAGCTCTTGGGAGAGGCCTGGAGTCCAGATCCCCGGCTGCACTCCAGCTGTGCCTCCACATGGCCACGCGTCCCCTCTCTGGGCCTCAGTGTGTCCACTTGTACAAGAACTGATTAAGCCGTGGACTTTCCCACATTCCTCCCTGTGCCATTCAGCGACTCTGAATATTCCCAGGGGTTTTCAGGGCTGGTGATGAGGCGCTAGGCACTGAAGGGACTCACGCAATTTCAGTCAGATATTGACTTATGAGGGGCAGCCAGATGGTAGGTGAAAAGTAGTGAAAACTCAGGCTTCTGAAAATAAAATGGGAAACTCTCTCAGAAGAAATGATAACTTCAGCATAAAACAGCAACCTATTGCCATTTCATATCCCTGAAAACTAAAG
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Task1_train_14704
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Given a variant located on Chromosome 10 and affecting UROS (uroporphyrinogen III synthase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Cutaneous porphyria
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ATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATCTTTTGTTCTTCCTCTAGGCAAACACTAAGAAGCTTGGGGAAAACTGTGTTAGGCTTATACCACCAGGCATCTCACAGCATTGTGTGACTTGGGGGTGGGTGGGTGGGGTGGAGGTGGGGACTCCTCCTACAGGCCCAGGGGAGAGGCAGCAGGGCACAGAGGGACAAGAACCAGAGCAGGACCAGCACCGTGACCCATCCTGACCTGCAATATGACGTAAGCGCTGGTCATATGGACCAGTTGCCATGCTAAGCACTTTATGGGTCCTATCTCTTTAATTTTTCTTTTTCTTTCTTTTTTTCTTTTATGGGGCAGGTACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCCGTGGCGCGATCTCGGCTCACTGCAACCTCAGTCTCCAGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCATGTAGCTGGGATTATAGGCGCATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAAAGACGGGGTTTTCATCATATTGGACAGGCTGGTCTGGAACACCTGACCTCAGGTGATCCGCCTGAGGCCTCCCAAAGTGCTGGGATTCCAGGTGGGAGCCACAGCGCCCGGCCTCTCTCTAATCTTTCTAACCACAAGATTCAGATATTGTTTTTCTTCCTCGGTGACCTGTGTGAGTCCTGGGCCTTCTAGGAACTCAAAACATGACTTTGGCAAGTTGTTTCACCTCTCTAGCCCTCAGTGTCCTCACCTGTAATGAGGAACACTGACCTCTTTTTCTGGATACCCACCACTGGACTGGTGTGAGAATTGTATCAGTTACTGCCCAGAAGTGCATCAACTGCTCAGCAGCTCCTGAGACCATGGCAAGGCATCACCATGGCTGACAATGTGGAATCAGTCTTCCCAGGTTCAACTGCAGCTCTTCCTTCTCAGCAGTGTGACCTACAGACAGGCCATATGATGTCTCTGAGCCCCGTGCTCCATCTTTAAAACTGGGAGAGCGGTGCATACTCCCCACATGAGATGCACCTGTGAGAAGGCAGGTGAAGCCTTTTGCTCTTCCTGACTGCAGTGAGTGGCAGTGTCTGTCCTTGGGCTCTGGGTCACATCCTGCACCCTCTCCTCAGTCCCTCTGGAGCCAGTTCAAGGGTGTTTCTATTACAGACACAAGAGTTGTGGTTATTTGTAGACTCATAATAAATACAGTCCCTAGTAAGTGAGAATGTAAACCCTTTAAAAGATATGAAAAAGGTGACTGCTTTTAGAATAGACAATAATGGCAAACATAAGATGGGGGAAAGGAAGGAAAGGATGTTAACACCTGTACCAAGCCCTGAGCTAATTCAGGACTTTACTCAAATTCCCTCATGTAATCCTGAGACTCATCCTAAGCAGGGAAGACCATACACATGTCTATGAAAGCCACAGAGAGACAATTATCCCCATGCTGCAAGTGAGGAAACGGGCTGGGAGAAGGTGAGCAATCTGTGCAACAGCCCAGCAGGAGGTAGAGCTGCCCTTCCAATTCTAAGGCACCTGCTAGGCCAGGGGTGTCTCACTTGACATTGAAGCCCTAGGATAATTCATAAAGATTAAAAAAAAAAAAAAGAATCTGAAAAAGACCAAAAGCTCATTGAATAACTTACCTTAATTTGATCGATATTGTCACCAGATAACTCCTGAATGTGCTTGAGACTGTATGTGAGGCCAGAGGGACTAAAAAATGTGATGCTGGCTGGAACCCCCTGTGGGGAACAGAAAACAAGATCAGTCCTTGCCATGAGACTGAGGAGAGACAACATTCCTCCGGCTTCATCCGCATCAAGACCTCAAGCCACAGGCCACCAAGGCGGTTTTAGCACAGGAGTGGTTCCCGGCTGATGCTGGCATCCTCTGCTCCAGTGAGGCAGGATTCTGGTAGGGAACTGTTGGAAAGAGCAGGCTGCCATCAGAAAGCTGGTGCTGCCCCAGGTCTGTGTCTGCCTGGCCAGAGGACATGGGCATCCCGGAGCTCATGTGCCCAGCAGCCTAGACAATGCCTCTAGCTCCTGTGGTCATACGGCACTGATCACATGAGGCAGTGGTGTGAGGCAGTGCTGGCTCCCTGTCAATGCTCCCTCCCTCTGGAAGCAGAGCAAGCAGACAAGCCTGCCTGGCCTTTTTGCATTTGGTTTGTCCTATCAGGCCCTCCCAATACCAGGCAAGACATTCAGAAGCTTGCCCTGGGAGAGGAAAGGGAGGTGTTTTACTGCATATAAATGCTGAAGACATCAAGGAACTCAAGCAAGAGCTATCCATTCTCCTGCCTGAGTCCTCCAACAGTCCCCACGGACTCCCAAATTCAATCCAGACTCCTTGGTGGCCACTGTCAGCTCTTCCCACTATGGGCTCAGCCTCCCTCTCCAGTGTCTGCCCCTCCAGCTCCACCAGCATCCCCGTATGATGAATAGCAATGATAACATCAAGGCCACTATTTACCTCAGGGTTGTATGTATCTTCGATGCTGTACAAAAAGCTTTGCGTAAATTATCTCCTTTAACCCCTATAAAAACTTACCACTTCCTCAAAGTCACCACATTAATCTCTCCAAAGAGGGAGATTTCATAGACCACCTACTACAAGCACCTCTTACCGAAATCACTGATTTCAAACCAGCTTGCAATAGACATTTCATGAAACAACCACAAAATTGTTTCCATTCCTAATTCTAGAATCCCAGACCAACTATGTGACAGGAAAAGGCATGCAGGTGACAGCTGGGGACAGTGAAACCACATATAGAACCAACATCTATCAGCTCGTGCCCTTCACCCTCTGCTTCCCCACCTGGGCACCCACCCTGCCAGAACCGCCCCCAAACGCCACGTACCTGCTGGGAATAGTAGCTGTTCAGGTTCCCTTGGATTCCTGGGTGTGCAACTGTCTGATACACAGTTATGCTTTCCATGGCAATCCCTGGGCACAATCAAAAGCAGGAAAGACTTTACCGCACTGGGCACACAATGGGGCCTCCACCACTTCACAGCACAGTTGGTGAAACCTCCCAATACAGCACCACCCTCCTGGAACGAGCTGCTTGGAAGCTGAGAGGCCAGACTCAGCAGAGAGGCCTTGAACAGTCCTCTGCAGCCTGCTAAACGCTGTGGAGTGGTCCGGTGGAAGAGGAGGCTGAGACGGCAGAAAAAGAACAAAGGCCCAGAAACCAAAGCCTTCATTTGTACCCAGAATGCCTTTTGTTCCCAGGCTTATGTAGGTTTGTCCACACAAGGCCGTCCCTAGTCACTCCATGGATCCCACACAGACTGGTTGCATGACACCAGCAAGTGTAGGAAGGGCAGCTCTTGGGAGAGGCCTGGAGTCCAGATCCCCGGCTGCACTCCAGCTGTGCCTCCACATGGCCACGCGTCCCCTCTCTGGGCCTCAGTGTGTCCACTTGTACAAGAACTGATTAAGCCGTGGACTTTCCCACATTCCTCCCTGTGCCATTCAGCGACTCTGAATATTCCCAGGGGTTTTCAGGGCTGGTGATGAGGCGCTAGGCACTGAAGGGACTCACGCAATTTCAGTCAGATATTGACTTATGAGGGGCAGCCAGATGGTAGGTGAAAAGTAGTGAAAACTCAGGCTTCTGAAAATAAAATGGGAAACTCTCTCAGAAGAAATGATAACTTCAGCATAAAACAGCAACCTATTGCCATTTCATATCCCTGAAAACTAAAGAAATAAACTGAAGTATCAAACCTCTGATTTATATATTATTTCTTTAAGGGTAACTGAGACCAAGCTTTCTCT
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ATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATCTTTTGTTCTTCCTCTAGGCAAACACTAAGAAGCTTGGGGAAAACTGTGTTAGGCTTATACCACCAGGCATCTCACAGCATTGTGTGACTTGGGGGTGGGTGGGTGGGGTGGAGGTGGGGACTCCTCCTACAGGCCCAGGGGAGAGGCAGCAGGGCACAGAGGGACAAGAACCAGAGCAGGACCAGCACCGTGACCCATCCTGACCTGCAATATGACGTAAGCGCTGGTCATATGGACCAGTTGCCATGCTAAGCACTTTATGGGTCCTATCTCTTTAATTTTTCTTTTTCTTTCTTTTTTTCTTTTATGGGGCAGGTACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCCGTGGCGCGATCTCGGCTCACTGCAACCTCAGTCTCCAGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCATGTAGCTGGGATTATAGGCGCATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAAAGACGGGGTTTTCATCATATTGGACAGGCTGGTCTGGAACACCTGACCTCAGGTGATCCGCCTGAGGCCTCCCAAAGTGCTGGGATTCCAGGTGGGAGCCACAGCGCCCGGCCTCTCTCTAATCTTTCTAACCACAAGATTCAGATATTGTTTTTCTTCCTCGGTGACCTGTGTGAGTCCTGGGCCTTCTAGGAACTCAAAACATGACTTTGGCAAGTTGTTTCACCTCTCTAGCCCTCAGTGTCCTCACCTGTAATGAGGAACACTGACCTCTTTTTCTGGATACCCACCACTGGACTGGTGTGAGAATTGTATCAGTTACTGCCCAGAAGTGCATCAACTGCTCAGCAGCTCCTGAGACCATGGCAAGGCATCACCATGGCTGACAATGTGGAATCAGTCTTCCCAGGTTCAACTGCAGCTCTTCCTTCTCAGCAGTGTGACCTACAGACAGGCCATATGATGTCTCTGAGCCCCGTGCTCCATCTTTAAAACTGGGAGAGCGGTGCATACTCCCCACATGAGATGCACCTGTGAGAAGGCAGGTGAAGCCTTTTGCTCTTCCTGACTGCAGTGAGTGGCAGTGTCTGTCCTTGGGCTCTGGGTCACATCCTGCACCCTCTCCTCAGTCCCTCTGGAGCCAGTTCAAGGGTGTTTCTATTACAGACACAAGAGTTGTGGTTATTTGTAGACTCATAATAAATACAGTCCCTAGTAAGTGAGAATGTAAACCCTTTAAAAGATATGAAAAAGGTGACTGCTTTTAGAATAGACAATAATGGCAAACATAAGATGGGGGAAAGGAAGGAAAGGATGTTAACACCTGTACCAAGCCCTGAGCTAATTCAGGACTTTACTCAAATTCCCTCATGTAATCCTGAGACTCATCCTAAGCAGGGAAGACCATACACATGTCTATGAAAGCCACAGAGAGACAATTATCCCCATGCTGCAAGTGAGGAAACGGGCTGGGAGAAGGTGAGCAATCTGTGCAACAGCCCAGCAGGAGGTAGAGCTGCCCTTCCAATTCTAAGGCACCTGCTAGGCCAGGGGTGTCTCACTTGACATTGAAGCCCTAGGATAATTCATAAAGATTAAAAAAAAAAAAAAGAATCTGAAAAAGACCAAAAGCTCATTGAATAACTTACCTTAATTTGATCGATATTGTCACCAGATAACTCCTGAATGTGCTTGAGACTGTATGTGAGGCCAGAGGGACTAAAAAATGTGATGCTGGCTGGAACCCACTGTGGGGAACAGAAAACAAGATCAGTCCTTGCCATGAGACTGAGGAGAGACAACATTCCTCCGGCTTCATCCGCATCAAGACCTCAAGCCACAGGCCACCAAGGCGGTTTTAGCACAGGAGTGGTTCCCGGCTGATGCTGGCATCCTCTGCTCCAGTGAGGCAGGATTCTGGTAGGGAACTGTTGGAAAGAGCAGGCTGCCATCAGAAAGCTGGTGCTGCCCCAGGTCTGTGTCTGCCTGGCCAGAGGACATGGGCATCCCGGAGCTCATGTGCCCAGCAGCCTAGACAATGCCTCTAGCTCCTGTGGTCATACGGCACTGATCACATGAGGCAGTGGTGTGAGGCAGTGCTGGCTCCCTGTCAATGCTCCCTCCCTCTGGAAGCAGAGCAAGCAGACAAGCCTGCCTGGCCTTTTTGCATTTGGTTTGTCCTATCAGGCCCTCCCAATACCAGGCAAGACATTCAGAAGCTTGCCCTGGGAGAGGAAAGGGAGGTGTTTTACTGCATATAAATGCTGAAGACATCAAGGAACTCAAGCAAGAGCTATCCATTCTCCTGCCTGAGTCCTCCAACAGTCCCCACGGACTCCCAAATTCAATCCAGACTCCTTGGTGGCCACTGTCAGCTCTTCCCACTATGGGCTCAGCCTCCCTCTCCAGTGTCTGCCCCTCCAGCTCCACCAGCATCCCCGTATGATGAATAGCAATGATAACATCAAGGCCACTATTTACCTCAGGGTTGTATGTATCTTCGATGCTGTACAAAAAGCTTTGCGTAAATTATCTCCTTTAACCCCTATAAAAACTTACCACTTCCTCAAAGTCACCACATTAATCTCTCCAAAGAGGGAGATTTCATAGACCACCTACTACAAGCACCTCTTACCGAAATCACTGATTTCAAACCAGCTTGCAATAGACATTTCATGAAACAACCACAAAATTGTTTCCATTCCTAATTCTAGAATCCCAGACCAACTATGTGACAGGAAAAGGCATGCAGGTGACAGCTGGGGACAGTGAAACCACATATAGAACCAACATCTATCAGCTCGTGCCCTTCACCCTCTGCTTCCCCACCTGGGCACCCACCCTGCCAGAACCGCCCCCAAACGCCACGTACCTGCTGGGAATAGTAGCTGTTCAGGTTCCCTTGGATTCCTGGGTGTGCAACTGTCTGATACACAGTTATGCTTTCCATGGCAATCCCTGGGCACAATCAAAAGCAGGAAAGACTTTACCGCACTGGGCACACAATGGGGCCTCCACCACTTCACAGCACAGTTGGTGAAACCTCCCAATACAGCACCACCCTCCTGGAACGAGCTGCTTGGAAGCTGAGAGGCCAGACTCAGCAGAGAGGCCTTGAACAGTCCTCTGCAGCCTGCTAAACGCTGTGGAGTGGTCCGGTGGAAGAGGAGGCTGAGACGGCAGAAAAAGAACAAAGGCCCAGAAACCAAAGCCTTCATTTGTACCCAGAATGCCTTTTGTTCCCAGGCTTATGTAGGTTTGTCCACACAAGGCCGTCCCTAGTCACTCCATGGATCCCACACAGACTGGTTGCATGACACCAGCAAGTGTAGGAAGGGCAGCTCTTGGGAGAGGCCTGGAGTCCAGATCCCCGGCTGCACTCCAGCTGTGCCTCCACATGGCCACGCGTCCCCTCTCTGGGCCTCAGTGTGTCCACTTGTACAAGAACTGATTAAGCCGTGGACTTTCCCACATTCCTCCCTGTGCCATTCAGCGACTCTGAATATTCCCAGGGGTTTTCAGGGCTGGTGATGAGGCGCTAGGCACTGAAGGGACTCACGCAATTTCAGTCAGATATTGACTTATGAGGGGCAGCCAGATGGTAGGTGAAAAGTAGTGAAAACTCAGGCTTCTGAAAATAAAATGGGAAACTCTCTCAGAAGAAATGATAACTTCAGCATAAAACAGCAACCTATTGCCATTTCATATCCCTGAAAACTAAAGAAATAAACTGAAGTATCAAACCTCTGATTTATATATTATTTCTTTAAGGGTAACTGAGACCAAGCTTTCTCT
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Task1_train_14705
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A variant affecting Chromosome 10, within the gene UROS (uroporphyrinogen III synthase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Cutaneous porphyria
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ATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATCTTTTGTTCTTCCTCTAGGCAAACACTAAGAAGCTTGGGGAAAACTGTGTTAGGCTTATACCACCAGGCATCTCACAGCATTGTGTGACTTGGGGGTGGGTGGGTGGGGTGGAGGTGGGGACTCCTCCTACAGGCCCAGGGGAGAGGCAGCAGGGCACAGAGGGACAAGAACCAGAGCAGGACCAGCACCGTGACCCATCCTGACCTGCAATATGACGTAAGCGCTGGTCATATGGACCAGTTGCCATGCTAAGCACTTTATGGGTCCTATCTCTTTAATTTTTCTTTTTCTTTCTTTTTTTCTTTTATGGGGCAGGTACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCCGTGGCGCGATCTCGGCTCACTGCAACCTCAGTCTCCAGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCATGTAGCTGGGATTATAGGCGCATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAAAGACGGGGTTTTCATCATATTGGACAGGCTGGTCTGGAACACCTGACCTCAGGTGATCCGCCTGAGGCCTCCCAAAGTGCTGGGATTCCAGGTGGGAGCCACAGCGCCCGGCCTCTCTCTAATCTTTCTAACCACAAGATTCAGATATTGTTTTTCTTCCTCGGTGACCTGTGTGAGTCCTGGGCCTTCTAGGAACTCAAAACATGACTTTGGCAAGTTGTTTCACCTCTCTAGCCCTCAGTGTCCTCACCTGTAATGAGGAACACTGACCTCTTTTTCTGGATACCCACCACTGGACTGGTGTGAGAATTGTATCAGTTACTGCCCAGAAGTGCATCAACTGCTCAGCAGCTCCTGAGACCATGGCAAGGCATCACCATGGCTGACAATGTGGAATCAGTCTTCCCAGGTTCAACTGCAGCTCTTCCTTCTCAGCAGTGTGACCTACAGACAGGCCATATGATGTCTCTGAGCCCCGTGCTCCATCTTTAAAACTGGGAGAGCGGTGCATACTCCCCACATGAGATGCACCTGTGAGAAGGCAGGTGAAGCCTTTTGCTCTTCCTGACTGCAGTGAGTGGCAGTGTCTGTCCTTGGGCTCTGGGTCACATCCTGCACCCTCTCCTCAGTCCCTCTGGAGCCAGTTCAAGGGTGTTTCTATTACAGACACAAGAGTTGTGGTTATTTGTAGACTCATAATAAATACAGTCCCTAGTAAGTGAGAATGTAAACCCTTTAAAAGATATGAAAAAGGTGACTGCTTTTAGAATAGACAATAATGGCAAACATAAGATGGGGGAAAGGAAGGAAAGGATGTTAACACCTGTACCAAGCCCTGAGCTAATTCAGGACTTTACTCAAATTCCCTCATGTAATCCTGAGACTCATCCTAAGCAGGGAAGACCATACACATGTCTATGAAAGCCACAGAGAGACAATTATCCCCATGCTGCAAGTGAGGAAACGGGCTGGGAGAAGGTGAGCAATCTGTGCAACAGCCCAGCAGGAGGTAGAGCTGCCCTTCCAATTCTAAGGCACCTGCTAGGCCAGGGGTGTCTCACTTGACATTGAAGCCCTAGGATAATTCATAAAGATTAAAAAAAAAAAAAAGAATCTGAAAAAGACCAAAAGCTCATTGAATAACTTACCTTAATTTGATCGATATTGTCACCAGATAACTCCTGAATGTGCTTGAGACTGTATGTGAGGCCAGAGGGACTAAAAAATGTGATGCTGGCTGGAACCCCCTGTGGGGAACAGAAAACAAGATCAGTCCTTGCCATGAGACTGAGGAGAGACAACATTCCTCCGGCTTCATCCGCATCAAGACCTCAAGCCACAGGCCACCAAGGCGGTTTTAGCACAGGAGTGGTTCCCGGCTGATGCTGGCATCCTCTGCTCCAGTGAGGCAGGATTCTGGTAGGGAACTGTTGGAAAGAGCAGGCTGCCATCAGAAAGCTGGTGCTGCCCCAGGTCTGTGTCTGCCTGGCCAGAGGACATGGGCATCCCGGAGCTCATGTGCCCAGCAGCCTAGACAATGCCTCTAGCTCCTGTGGTCATACGGCACTGATCACATGAGGCAGTGGTGTGAGGCAGTGCTGGCTCCCTGTCAATGCTCCCTCCCTCTGGAAGCAGAGCAAGCAGACAAGCCTGCCTGGCCTTTTTGCATTTGGTTTGTCCTATCAGGCCCTCCCAATACCAGGCAAGACATTCAGAAGCTTGCCCTGGGAGAGGAAAGGGAGGTGTTTTACTGCATATAAATGCTGAAGACATCAAGGAACTCAAGCAAGAGCTATCCATTCTCCTGCCTGAGTCCTCCAACAGTCCCCACGGACTCCCAAATTCAATCCAGACTCCTTGGTGGCCACTGTCAGCTCTTCCCACTATGGGCTCAGCCTCCCTCTCCAGTGTCTGCCCCTCCAGCTCCACCAGCATCCCCGTATGATGAATAGCAATGATAACATCAAGGCCACTATTTACCTCAGGGTTGTATGTATCTTCGATGCTGTACAAAAAGCTTTGCGTAAATTATCTCCTTTAACCCCTATAAAAACTTACCACTTCCTCAAAGTCACCACATTAATCTCTCCAAAGAGGGAGATTTCATAGACCACCTACTACAAGCACCTCTTACCGAAATCACTGATTTCAAACCAGCTTGCAATAGACATTTCATGAAACAACCACAAAATTGTTTCCATTCCTAATTCTAGAATCCCAGACCAACTATGTGACAGGAAAAGGCATGCAGGTGACAGCTGGGGACAGTGAAACCACATATAGAACCAACATCTATCAGCTCGTGCCCTTCACCCTCTGCTTCCCCACCTGGGCACCCACCCTGCCAGAACCGCCCCCAAACGCCACGTACCTGCTGGGAATAGTAGCTGTTCAGGTTCCCTTGGATTCCTGGGTGTGCAACTGTCTGATACACAGTTATGCTTTCCATGGCAATCCCTGGGCACAATCAAAAGCAGGAAAGACTTTACCGCACTGGGCACACAATGGGGCCTCCACCACTTCACAGCACAGTTGGTGAAACCTCCCAATACAGCACCACCCTCCTGGAACGAGCTGCTTGGAAGCTGAGAGGCCAGACTCAGCAGAGAGGCCTTGAACAGTCCTCTGCAGCCTGCTAAACGCTGTGGAGTGGTCCGGTGGAAGAGGAGGCTGAGACGGCAGAAAAAGAACAAAGGCCCAGAAACCAAAGCCTTCATTTGTACCCAGAATGCCTTTTGTTCCCAGGCTTATGTAGGTTTGTCCACACAAGGCCGTCCCTAGTCACTCCATGGATCCCACACAGACTGGTTGCATGACACCAGCAAGTGTAGGAAGGGCAGCTCTTGGGAGAGGCCTGGAGTCCAGATCCCCGGCTGCACTCCAGCTGTGCCTCCACATGGCCACGCGTCCCCTCTCTGGGCCTCAGTGTGTCCACTTGTACAAGAACTGATTAAGCCGTGGACTTTCCCACATTCCTCCCTGTGCCATTCAGCGACTCTGAATATTCCCAGGGGTTTTCAGGGCTGGTGATGAGGCGCTAGGCACTGAAGGGACTCACGCAATTTCAGTCAGATATTGACTTATGAGGGGCAGCCAGATGGTAGGTGAAAAGTAGTGAAAACTCAGGCTTCTGAAAATAAAATGGGAAACTCTCTCAGAAGAAATGATAACTTCAGCATAAAACAGCAACCTATTGCCATTTCATATCCCTGAAAACTAAAGAAATAAACTGAAGTATCAAACCTCTGATTTATATATTATTTCTTTAAGGGTAACTGAGACCAAGCTTTCTCT
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ATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATCTTTTGTTCTTCCTCTAGGCAAACACTAAGAAGCTTGGGGAAAACTGTGTTAGGCTTATACCACCAGGCATCTCACAGCATTGTGTGACTTGGGGGTGGGTGGGTGGGGTGGAGGTGGGGACTCCTCCTACAGGCCCAGGGGAGAGGCAGCAGGGCACAGAGGGACAAGAACCAGAGCAGGACCAGCACCGTGACCCATCCTGACCTGCAATATGACGTAAGCGCTGGTCATATGGACCAGTTGCCATGCTAAGCACTTTATGGGTCCTATCTCTTTAATTTTTCTTTTTCTTTCTTTTTTTCTTTTATGGGGCAGGTACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCCGTGGCGCGATCTCGGCTCACTGCAACCTCAGTCTCCAGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCATGTAGCTGGGATTATAGGCGCATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAAAGACGGGGTTTTCATCATATTGGACAGGCTGGTCTGGAACACCTGACCTCAGGTGATCCGCCTGAGGCCTCCCAAAGTGCTGGGATTCCAGGTGGGAGCCACAGCGCCCGGCCTCTCTCTAATCTTTCTAACCACAAGATTCAGATATTGTTTTTCTTCCTCGGTGACCTGTGTGAGTCCTGGGCCTTCTAGGAACTCAAAACATGACTTTGGCAAGTTGTTTCACCTCTCTAGCCCTCAGTGTCCTCACCTGTAATGAGGAACACTGACCTCTTTTTCTGGATACCCACCACTGGACTGGTGTGAGAATTGTATCAGTTACTGCCCAGAAGTGCATCAACTGCTCAGCAGCTCCTGAGACCATGGCAAGGCATCACCATGGCTGACAATGTGGAATCAGTCTTCCCAGGTTCAACTGCAGCTCTTCCTTCTCAGCAGTGTGACCTACAGACAGGCCATATGATGTCTCTGAGCCCCGTGCTCCATCTTTAAAACTGGGAGAGCGGTGCATACTCCCCACATGAGATGCACCTGTGAGAAGGCAGGTGAAGCCTTTTGCTCTTCCTGACTGCAGTGAGTGGCAGTGTCTGTCCTTGGGCTCTGGGTCACATCCTGCACCCTCTCCTCAGTCCCTCTGGAGCCAGTTCAAGGGTGTTTCTATTACAGACACAAGAGTTGTGGTTATTTGTAGACTCATAATAAATACAGTCCCTAGTAAGTGAGAATGTAAACCCTTTAAAAGATATGAAAAAGGTGACTGCTTTTAGAATAGACAATAATGGCAAACATAAGATGGGGGAAAGGAAGGAAAGGATGTTAACACCTGTACCAAGCCCTGAGCTAATTCAGGACTTTACTCAAATTCCCTCATGTAATCCTGAGACTCATCCTAAGCAGGGAAGACCATACACATGTCTATGAAAGCCACAGAGAGACAATTATCCCCATGCTGCAAGTGAGGAAACGGGCTGGGAGAAGGTGAGCAATCTGTGCAACAGCCCAGCAGGAGGTAGAGCTGCCCTTCCAATTCTAAGGCACCTGCTAGGCCAGGGGTGTCTCACTTGACATTGAAGCCCTAGGATAATTCATAAAGATTAAAAAAAAAAAAAAGAATCTGAAAAAGACCAAAAGCTCATTGAATAACTTACCTTAATTTGATCGATATTGTCACCAGATAACTCCTGAATGTGCTTGAGACTGTATGTGAGGCCAGAGGGACTAAAAAATGTGATGCTGGCTGGAACCCTCTGTGGGGAACAGAAAACAAGATCAGTCCTTGCCATGAGACTGAGGAGAGACAACATTCCTCCGGCTTCATCCGCATCAAGACCTCAAGCCACAGGCCACCAAGGCGGTTTTAGCACAGGAGTGGTTCCCGGCTGATGCTGGCATCCTCTGCTCCAGTGAGGCAGGATTCTGGTAGGGAACTGTTGGAAAGAGCAGGCTGCCATCAGAAAGCTGGTGCTGCCCCAGGTCTGTGTCTGCCTGGCCAGAGGACATGGGCATCCCGGAGCTCATGTGCCCAGCAGCCTAGACAATGCCTCTAGCTCCTGTGGTCATACGGCACTGATCACATGAGGCAGTGGTGTGAGGCAGTGCTGGCTCCCTGTCAATGCTCCCTCCCTCTGGAAGCAGAGCAAGCAGACAAGCCTGCCTGGCCTTTTTGCATTTGGTTTGTCCTATCAGGCCCTCCCAATACCAGGCAAGACATTCAGAAGCTTGCCCTGGGAGAGGAAAGGGAGGTGTTTTACTGCATATAAATGCTGAAGACATCAAGGAACTCAAGCAAGAGCTATCCATTCTCCTGCCTGAGTCCTCCAACAGTCCCCACGGACTCCCAAATTCAATCCAGACTCCTTGGTGGCCACTGTCAGCTCTTCCCACTATGGGCTCAGCCTCCCTCTCCAGTGTCTGCCCCTCCAGCTCCACCAGCATCCCCGTATGATGAATAGCAATGATAACATCAAGGCCACTATTTACCTCAGGGTTGTATGTATCTTCGATGCTGTACAAAAAGCTTTGCGTAAATTATCTCCTTTAACCCCTATAAAAACTTACCACTTCCTCAAAGTCACCACATTAATCTCTCCAAAGAGGGAGATTTCATAGACCACCTACTACAAGCACCTCTTACCGAAATCACTGATTTCAAACCAGCTTGCAATAGACATTTCATGAAACAACCACAAAATTGTTTCCATTCCTAATTCTAGAATCCCAGACCAACTATGTGACAGGAAAAGGCATGCAGGTGACAGCTGGGGACAGTGAAACCACATATAGAACCAACATCTATCAGCTCGTGCCCTTCACCCTCTGCTTCCCCACCTGGGCACCCACCCTGCCAGAACCGCCCCCAAACGCCACGTACCTGCTGGGAATAGTAGCTGTTCAGGTTCCCTTGGATTCCTGGGTGTGCAACTGTCTGATACACAGTTATGCTTTCCATGGCAATCCCTGGGCACAATCAAAAGCAGGAAAGACTTTACCGCACTGGGCACACAATGGGGCCTCCACCACTTCACAGCACAGTTGGTGAAACCTCCCAATACAGCACCACCCTCCTGGAACGAGCTGCTTGGAAGCTGAGAGGCCAGACTCAGCAGAGAGGCCTTGAACAGTCCTCTGCAGCCTGCTAAACGCTGTGGAGTGGTCCGGTGGAAGAGGAGGCTGAGACGGCAGAAAAAGAACAAAGGCCCAGAAACCAAAGCCTTCATTTGTACCCAGAATGCCTTTTGTTCCCAGGCTTATGTAGGTTTGTCCACACAAGGCCGTCCCTAGTCACTCCATGGATCCCACACAGACTGGTTGCATGACACCAGCAAGTGTAGGAAGGGCAGCTCTTGGGAGAGGCCTGGAGTCCAGATCCCCGGCTGCACTCCAGCTGTGCCTCCACATGGCCACGCGTCCCCTCTCTGGGCCTCAGTGTGTCCACTTGTACAAGAACTGATTAAGCCGTGGACTTTCCCACATTCCTCCCTGTGCCATTCAGCGACTCTGAATATTCCCAGGGGTTTTCAGGGCTGGTGATGAGGCGCTAGGCACTGAAGGGACTCACGCAATTTCAGTCAGATATTGACTTATGAGGGGCAGCCAGATGGTAGGTGAAAAGTAGTGAAAACTCAGGCTTCTGAAAATAAAATGGGAAACTCTCTCAGAAGAAATGATAACTTCAGCATAAAACAGCAACCTATTGCCATTTCATATCCCTGAAAACTAAAGAAATAAACTGAAGTATCAAACCTCTGATTTATATATTATTTCTTTAAGGGTAACTGAGACCAAGCTTTCTCT
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Task1_train_14706
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This gene mutation involves UROS (uroporphyrinogen III synthase) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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GAGTGTGGGCTGGACTTACTTGATTCAAGCCAAAAGAAATGGCAGAAGAAATGGATGCCACTTCCAAGATTAGGTTATAAAAAGACTGTGGCTTCAGTGGTAGGTGCTCTCTTTTGCTCTCTCTTGGATTGCCTTGCGACAGGGGACGCCAGCTGCCATGTCTTAGGTAGCCCTCTCGGGAGGCCCATGTGAGTGAGCTGGGAAGCAGATCTTCTGAGGCCACTGACAGCTATGTGAGTGATTTTGGAAGCAGACCCTCCCCTAAGTCAAGCCTCAAAATGTCTGTAGCCCTGACCACCAGCTTGACCATGGCCTGGTTACAGAGAAGCCCACTAAATCATGCCCAGATTCTGGCCCACAGAAACATTGAGATGATAAATGCCTGTTTCTAGCTAGTAAGTTTTGGGGTAATTTGGGGGTAATTTGTTACGCAGCAAAGATAATACATTGGGCCTGGTCTCCTCCCAGCTGTTGGTGCTCAACTTCTGATAACTCTCCAGGCTCCTGCTGAGATTCTAGTTGAACAGAAACCTCAGAGAGTTCAAGCAATGCCTTGTCCCTGTACCTACTCAAAAGAGCTCCTTTGTACATTATTATATCTGAAAAGGTGAGCTAAAATAGAATGTTCAAAGTTGGGTGATTGACTTTCATGTCAAGGAAAAATGTGGTTTCCTTTCAAAGACATTTTTAAAAGTTACAACACTTCTAATTTCCTCTCTCCTTTGATAATATGTTCCCTGCATTTAGAACATGTCCTTTTCCTTCACAACTGAATAAACAGGGACCAGACTGAGTCCAGTGAGTGCCTAACTGAGACCAAGGCCCTGCTGCTTGTGCTGCACTTGATATGGTCCACTCTCAGCCACTCTAAGTCTCAAGACATAGATGCTCATCATTCATTGTATCACCATAGTCTTTTTTCTCATTTTCTTCTCATATGACAGGACAGTGACAGCAAAATGCATAGTGATGCTACCGAAATCAAACTGAAGGGGATGTGATGCTCAAAATGTTTGCTTATCAGTGAATGTGTGAAAGTTTGGAAAATGTATAAATATACTGTATATTTGATAGTTGAGTTTTTGGTAGGAAATATAGAGAATGAAAGAAACTGGCTATTTTCTTTCCTCTTCTCATTCAGGAAAAAATGATAAAAGAAAGTAACAAGCAAATTCTTAACTTATTTTTGGAGAGAGATGTGCGGGAGGGAAGATGGTTTCCTTGGCAACCAAGCCACTAATTCCCTTTCCCTGGCTGATCTGCTGAGCTTGTGGTAAAAGTCATGCTGCTCAGAAGATCTAGGAATCATCTTTTAATTAGCTTAGCAACTCCCAACTGGTTTCTTCCCCAGCCTCATTTTGTTCTCTGGAAAATGTGCTTTTAATTCTTAAACTATTTTCACTCATATTATACATTCCTCTAATATTTTCAAATTCACTGGACAAATTGAACTGTTCTGAAACAAAGTTACAGGCTAATTTATGACAATTGCTAAGCATTGTTTTAAGTATTTAAAATGCTCAATGTTAATTTTTAATGATTACTATTTACATTTTATGCTTTAAGAAGAATAAATAGACTCAAGACTGGAAAAATGCACAAAATATTAAGAAAACCAAAAAAAAACAACTATGATATCACTATCTGGAGATTTAGGCTTTTAAAAAAATTATAGTAAAAATATAACATAAAATTTGTCATTTTAATCACTAAGTGCATAATTCAGTGGCATTATGTACATTCACAATGGAATTAGTCAGCCAAAGGGTACAAACATTTTAATAAAGCTTTTGCATACATACTGACCAAGTGGTTCTCAAAAGATGTAAACCAATTTTTAATGCCATTTGGAAATGTTTGATTATATTTGTTTCACTGCATTCTTATCAGTAGTATCGTATACTTAATTAATTTTTGCAAATTTAATAAGCAAAAAATAATATTTTTAAACTGAGTTAAACTGTTTTTTAAAACTGAAAAGGCTAAGCCATTTTTTGTTGTTTTATTTTTACCTTGACTCCTTACCTAGAGAAGCAGTAGCATTTCCAACCACATACACTGACTTGGCATTCCATTTTTCTTTCAGAGACCTTTCCCAGACTGTAAAACATGAAATGATATGTGAATTGCAAATACCAAAGTGGCCATTTGGACTGTTGCCCAAGGCTGCTTGTTCACCCTAAGAAACTGTGAGCAAAGCAAACTATTAGCAACCAAATGTAAAAAACAGCATCTCAAACTAAAATTCCATTTTCACTTTGTTCATGTTTTATAGGCAATTTTTAAAAAATTGCTTTCATAAATGTTTTAGTACTCCTTGCTTGAAATATTAGCCTATCTCCACAGTTGGTACTAGAAGAATTTTAATGGGAACCACGAAATCAACATAACTTGAAGAATTAATCTGCATAGTGAAATCAAAAATTTAAATCTAGACTTTTAAAGAAAAAGACACTGGTCATTTAAAAAAAGCAACTTAAATGTCTAACAAGGAAATCCAATTGGTTTATTTGGGACATAAATCTGAAAGCAGTCAACAAACTGTAATCTCAGAGGAGAGGGTTCATTTATCCATTACACCAAAGTAAAAATAATAAATTTCAGGTCAATTAACAAACACAATTTGATACAGAATATTATCATTTTATGATCAAACAAAATCTTTAAATATAGATTAAAGAAACACAAAGAGAAAATGGATTGTATAAATATATCATAAAGCTACTGGGCATTCATTACATTTTTAGAAAACAGGGAAATAATGGTTCTTCCTTTCCAAAATCTGGTTATGAACATAACTTTCCCTTAAATTCAAGAGCATTCCTCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCC
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GAGTGTGGGCTGGACTTACTTGATTCAAGCCAAAAGAAATGGCAGAAGAAATGGATGCCACTTCCAAGATTAGGTTATAAAAAGACTGTGGCTTCAGTGGTAGGTGCTCTCTTTTGCTCTCTCTTGGATTGCCTTGCGACAGGGGACGCCAGCTGCCATGTCTTAGGTAGCCCTCTCGGGAGGCCCATGTGAGTGAGCTGGGAAGCAGATCTTCTGAGGCCACTGACAGCTATGTGAGTGATTTTGGAAGCAGACCCTCCCCTAAGTCAAGCCTCAAAATGTCTGTAGCCCTGACCACCAGCTTGACCATGGCCTGGTTACAGAGAAGCCCACTAAATCATGCCCAGATTCTGGCCCACAGAAACATTGAGATGATAAATGCCTGTTTCTAGCTAGTAAGTTTTGGGGTAATTTGGGGGTAATTTGTTACGCAGCAAAGATAATACATTGGGCCTGGTCTCCTCCCAGCTGTTGGTGCTCAACTTCTGATAACTCTCCAGGCTCCTGCTGAGATTCTAGTTGAACAGAAACCTCAGAGAGTTCAAGCAATGCCTTGTCCCTGTACCTACTCAAAAGAGCTCCTTTGTACATTATTATATCTGAAAAGGTGAGCTAAAATAGAATGTTCAAAGTTGGGTGATTGACTTTCATGTCAAGGAAAAATGTGGTTTCCTTTCAAAGACATTTTTAAAAGTTACAACACTTCTAATTTCCTCTCTCCTTTGATAATATGTTCCCTGCATTTAGAACATGTCCTTTTCCTTCACAACTGAATAAACAGGGACCAGACTGAGTCCAGTGAGTGCCTAACTGAGACCAAGGCCCTGCTGCTTGTGCTGCACTTGATATGGTCCACTCTCAGCCACTCTAAGTCTCAAGACATAGATGCTCATCATTCATTGTATCACCATAGTCTTTTTTCTCATTTTCTTCTCATATGACAGGACAGTGACAGCAAAATGCATAGTGATGCTACCGAAATCAAACTGAAGGGGATGTGATGCTCAAAATGTTTGCTTATCAGTGAATGTGTGAAAGTTTGGAAAATGTATAAATATACTGTATATTTGATAGTTGAGTTTTTGGTAGGAAATATAGAGAATGAAAGAAACTGGCTATTTTCTTTCCTCTTCTCATTCAGGAAAAAATGATAAAAGAAAGTAACAAGCAAATTCTTAACTTATTTTTGGAGAGAGATGTGCGGGAGGGAAGATGGTTTCCTTGGCAACCAAGCCACTAATTCCCTTTCCCTGGCTGATCTGCTGAGCTTGTGGTAAAAGTCATGCTGCTCAGAAGATCTAGGAATCATCTTTTAATTAGCTTAGCAACTCCCAACTGGTTTCTTCCCCAGCCTCATTTTGTTCTCTGGAAAATGTGCTTTTAATTCTTAAACTATTTTCACTCATATTATACATTCCTCTAATATTTTCAAATTCACTGGACAAATTGAACTGTTCTGAAACAAAGTTACAGGCTAATTTATGACAATTGCTAAGCATTGTTTTAAGTATTTAAAATGCTCAATGTTAATTTTTAATGATTACTATTTACATTTTATGCTTTAAGAAGAATAAATAGACTCAAGACTGGAAAAATGCACAAAATATTAAGAAAACCAAAAAAAAACAACTATGATATCACTATCTGGAGATTTAGGCTTTTAAAAAAATTATAGTAAAAATATAACATAAAATTTGTCATTTTAATCACTAAGTGCATAATTCAGTGGCATTATGTACATTCACAATGGAATTAGTCAGCCAAAGGGTACAAACATTTTAATAAAGCTTTTGCATACATACTGACCAAGTGGTTCTCAAAAGATGTAAACCAATTTTTAATGCCATTTGGAAATGTTTGATTATATTTGTTTCACTGCATTCTTATCAGTAGTATCGTATACTTAATTAATTTTTGCAAATTTAATAAGCAAAAAATAATATTTTTAAACTGAGTTAAACTGTTTTTTAAAACTGAAAAGGCTAAGCCATTTTTTGTTGTTTTATTTTTACCTTGACTCCTTACCTAGAGAAGCAGTAGCATTTCCAGCCACATACACTGACTTGGCATTCCATTTTTCTTTCAGAGACCTTTCCCAGACTGTAAAACATGAAATGATATGTGAATTGCAAATACCAAAGTGGCCATTTGGACTGTTGCCCAAGGCTGCTTGTTCACCCTAAGAAACTGTGAGCAAAGCAAACTATTAGCAACCAAATGTAAAAAACAGCATCTCAAACTAAAATTCCATTTTCACTTTGTTCATGTTTTATAGGCAATTTTTAAAAAATTGCTTTCATAAATGTTTTAGTACTCCTTGCTTGAAATATTAGCCTATCTCCACAGTTGGTACTAGAAGAATTTTAATGGGAACCACGAAATCAACATAACTTGAAGAATTAATCTGCATAGTGAAATCAAAAATTTAAATCTAGACTTTTAAAGAAAAAGACACTGGTCATTTAAAAAAAGCAACTTAAATGTCTAACAAGGAAATCCAATTGGTTTATTTGGGACATAAATCTGAAAGCAGTCAACAAACTGTAATCTCAGAGGAGAGGGTTCATTTATCCATTACACCAAAGTAAAAATAATAAATTTCAGGTCAATTAACAAACACAATTTGATACAGAATATTATCATTTTATGATCAAACAAAATCTTTAAATATAGATTAAAGAAACACAAAGAGAAAATGGATTGTATAAATATATCATAAAGCTACTGGGCATTCATTACATTTTTAGAAAACAGGGAAATAATGGTTCTTCCTTTCCAAAATCTGGTTATGAACATAACTTTCCCTTAAATTCAAGAGCATTCCTCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCC
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Task1_train_14707
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This sequence change occurs on Chromosome 10, altering UROS (uroporphyrinogen III synthase). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Cutaneous porphyria
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CTTTCCCTTAAATTCAAGAGCATTCCTCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGA
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CTTTCCCTTAAATTCAAGAGCATTCCTCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCATCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGA
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Task1_train_14708
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A sequence alteration has been identified in UROS (uroporphyrinogen III synthase) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Cutaneous porphyria
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TCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTG
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TCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACGTAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTG
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Task1_train_14709
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A variant was discovered on Chromosome 10, affecting UROS (uroporphyrinogen III synthase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cutaneous porphyria
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AAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGA
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AAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTACTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGA
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Task1_train_14710
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This sequence variant lies in UROS (uroporphyrinogen III synthase) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Cutaneous porphyria
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AATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGATGCTCACACTAGA
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AATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGCAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGATGCTCACACTAGA
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Task1_train_14711
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Chromosome 10 houses a mutation in gene UROS (uroporphyrinogen III synthase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Cutaneous porphyria
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TTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGATGCTCACACTAGAATTCTTTTGGGTCTCGTTGGGTCATA
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TTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGAGTTATAGTGACCTTTCTAGGGTTTTCCTCTTTTTCATTATCTTCATCCTCAAAACATACACAAAAAGAAAAAATACAACTGCAAGAAAAAGCACCCAGAGCACCACTGGGAAAGAGTACACATGCTTCCCCATCTAGCGTATAATGGCACAATCGCGGCTCATACAACCTCTGCCTCCTGAGTTCAAGTGGTTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACTCCAGGCATGTGCCACCACGCCCAGCTAACTTTCGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGCTCTGAGTTTCTTAGGTTCTCACGCTTTCTTTTCAACAAGAGGTGAATGTGTGTATGAAATCACCAAGAAGGTGGGATGTTTAGGCTACAGCGAAGCCTGGTTAAATGTGGAGACAGAATAACCAAAACTCACCACTGTCACTTACTCCATGCCCACTCTGCTCCAGGTAATGTCCTGGATGCTTTCCTTTGGGACTCAGACTCTGCAGCTTGAATCCTGCACTTGTGCTTTACACATTGTGGGGGCCTGGAAAGTTCCATACCCTTTGTTCTCCAGGGTCCTCATCTGCCAAGTGAAAATACTAAGCACATCTATCTCACAGGAAAAAGTATTCAGGACAGAGTCTCGCACAGAGTGAGCATTCAGTAAGTTCTACCTAACTAATAGTCTACTGTTAGTAGATAATCCCATTACTATTAGTAGTAATCCCATGATGAGAGGTCAAGGAACTCATTAATGTCCAAATGGCTGCATAAACCCAGGACTAACTCACTCCAAAGCCCTTGCATAACCACTCTGCCCGCTGCCTCCGCTCATCAGTGTAACTGTGGAGGTGGGTGGCCCGAGTGTGAGGCCTGGCTCTGCACTGACTTGTTCTGTGCTTACTATCCTGGCCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAAGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGATGCTCACACTAGAATTCTTTTGGGTCTCGTTGGGTCATA
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Task1_train_14712
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This sequence change occurs on Chromosome 10, altering UROS (uroporphyrinogen III synthase). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Cutaneous porphyria
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CCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGATGCTCACACTAGAATTCTTTTGGGTCTCGTTGGGTCATATTAGGGAATGTGGCTCTTATCTTAATAGCAACGGGAAGCTTCTTGTTTATAGATGTATTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGCAGGGTTTCACCATGTTGCCCAGGCTAGTCTCGAACTCCTGAGCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGAGTGAGCCACTGCACCCAGCCTTATAGATGTATTTCTCCTCTCTTTTCCTCATTTCTGCTTGCCCTTTTACCTTCTCCCTTCTCTAAGGTGATAATATAAGGAAGGAAGTATGGTGTCACAGAATAAGCACAGGACTAAGGGCCAACGGACCTGAGCTCTGGTCTCAGCTTTATGACTTAACCATGGTGTGATCTTGTTTTTTCCCATGTTAAATGGGAATAACCTCTGCCCTACCAAGCCTTAGGGTTGCTGAGTGACTCAAAGAAGATAAAAACAGCGAACAGATCTATTGAACTTACTGCCTCCCAGGCACTATTCTAAGAGCTTCACATGCATTAAGTCCACCTACGAGGCTTAGGAAGAAGCTGAGGTGTACAGAGGATGACACTCATCCAAAGTCTCAGAATTGCTACGTGGCAGAGCTGGGATTCACACCCAACCAGTCTGGCTCCAAAGTCTGTGCTTTTAACCCCCTACGCTATATTATGCCTCACATACACTTTGAATACGAAAATGTTTGGGAAAAATAGAGGTATAAAAATATAAAGTATCACTGTAGTACAAAGTGCTTAGTTTAGTTATGCAAACACCCCAAAGAAAAATCAATCTACCCATTGTAAACAGAGAAAATATTTCTCCTGGGTTCTAATCTGTGGTTCTCTTAGGTAATAAAACCGATGCTGGCATGAAGTTTAGGCTTCTGGATAATAAAGAGCTCCCTGAGATGTGTTGCAAATAAAAATCCAACTACTACCCTTATCCTTTATCTGACGTCACTGAAAGCATTTGTCTTCTTTTTTAATCCTGTATACAATCATTCCCAAACACTGAAAGCATTTCTAATATAAAATTAGGCCAGGACAGTGGTTCATGCCTGGTAATCTCAGCACTTTGGCAGGCTGAGGCAGGAGGATTGCTTGAGAGCAGGAGTCCAAGATCAGCCTGGACAACATAGCGAGACCCCATTTCTACAAAAATTTTAAAAGTTGTTAACAAGGAGCCGGGCATAGTGGCGCATCCCTGTAGTCCTAACTACGCAGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGAGTTCAAGGTTGCTGTGGGCTATAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGAAGGATCTTGTCT
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CCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATACACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGATGCTCACACTAGAATTCTTTTGGGTCTCGTTGGGTCATATTAGGGAATGTGGCTCTTATCTTAATAGCAACGGGAAGCTTCTTGTTTATAGATGTATTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGCAGGGTTTCACCATGTTGCCCAGGCTAGTCTCGAACTCCTGAGCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGAGTGAGCCACTGCACCCAGCCTTATAGATGTATTTCTCCTCTCTTTTCCTCATTTCTGCTTGCCCTTTTACCTTCTCCCTTCTCTAAGGTGATAATATAAGGAAGGAAGTATGGTGTCACAGAATAAGCACAGGACTAAGGGCCAACGGACCTGAGCTCTGGTCTCAGCTTTATGACTTAACCATGGTGTGATCTTGTTTTTTCCCATGTTAAATGGGAATAACCTCTGCCCTACCAAGCCTTAGGGTTGCTGAGTGACTCAAAGAAGATAAAAACAGCGAACAGATCTATTGAACTTACTGCCTCCCAGGCACTATTCTAAGAGCTTCACATGCATTAAGTCCACCTACGAGGCTTAGGAAGAAGCTGAGGTGTACAGAGGATGACACTCATCCAAAGTCTCAGAATTGCTACGTGGCAGAGCTGGGATTCACACCCAACCAGTCTGGCTCCAAAGTCTGTGCTTTTAACCCCCTACGCTATATTATGCCTCACATACACTTTGAATACGAAAATGTTTGGGAAAAATAGAGGTATAAAAATATAAAGTATCACTGTAGTACAAAGTGCTTAGTTTAGTTATGCAAACACCCCAAAGAAAAATCAATCTACCCATTGTAAACAGAGAAAATATTTCTCCTGGGTTCTAATCTGTGGTTCTCTTAGGTAATAAAACCGATGCTGGCATGAAGTTTAGGCTTCTGGATAATAAAGAGCTCCCTGAGATGTGTTGCAAATAAAAATCCAACTACTACCCTTATCCTTTATCTGACGTCACTGAAAGCATTTGTCTTCTTTTTTAATCCTGTATACAATCATTCCCAAACACTGAAAGCATTTCTAATATAAAATTAGGCCAGGACAGTGGTTCATGCCTGGTAATCTCAGCACTTTGGCAGGCTGAGGCAGGAGGATTGCTTGAGAGCAGGAGTCCAAGATCAGCCTGGACAACATAGCGAGACCCCATTTCTACAAAAATTTTAAAAGTTGTTAACAAGGAGCCGGGCATAGTGGCGCATCCCTGTAGTCCTAACTACGCAGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGAGTTCAAGGTTGCTGTGGGCTATAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGAAGGATCTTGTCT
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Task1_train_14713
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Gene UROS (uroporphyrinogen III synthase) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Cutaneous porphyria
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TGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAGAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGATGCTCACACTAGAATTCTTTTGGGTCTCGTTGGGTCATATTAGGGAATGTGGCTCTTATCTTAATAGCAACGGGAAGCTTCTTGTTTATAGATGTATTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGCAGGGTTTCACCATGTTGCCCAGGCTAGTCTCGAACTCCTGAGCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGAGTGAGCCACTGCACCCAGCCTTATAGATGTATTTCTCCTCTCTTTTCCTCATTTCTGCTTGCCCTTTTACCTTCTCCCTTCTCTAAGGTGATAATATAAGGAAGGAAGTATGGTGTCACAGAATAAGCACAGGACTAAGGGCCAACGGACCTGAGCTCTGGTCTCAGCTTTATGACTTAACCATGGTGTGATCTTGTTTTTTCCCATGTTAAATGGGAATAACCTCTGCCCTACCAAGCCTTAGGGTTGCTGAGTGACTCAAAGAAGATAAAAACAGCGAACAGATCTATTGAACTTACTGCCTCCCAGGCACTATTCTAAGAGCTTCACATGCATTAAGTCCACCTACGAGGCTTAGGAAGAAGCTGAGGTGTACAGAGGATGACACTCATCCAAAGTCTCAGAATTGCTACGTGGCAGAGCTGGGATTCACACCCAACCAGTCTGGCTCCAAAGTCTGTGCTTTTAACCCCCTACGCTATATTATGCCTCACATACACTTTGAATACGAAAATGTTTGGGAAAAATAGAGGTATAAAAATATAAAGTATCACTGTAGTACAAAGTGCTTAGTTTAGTTATGCAAACACCCCAAAGAAAAATCAATCTACCCATTGTAAACAGAGAAAATATTTCTCCTGGGTTCTAATCTGTGGTTCTCTTAGGTAATAAAACCGATGCTGGCATGAAGTTTAGGCTTCTGGATAATAAAGAGCTCCCTGAGATGTGTTGCAAATAAAAATCCAACTACTACCCTTATCCTTTATCTGACGTCACTGAAAGCATTTGTCTTCTTTTTTAATCCTGTATACAATCATTCCCAAACACTGAAAGCATTTCTAATATAAAATTAGGCCAGGACAGTGGTTCATGCCTGGTAATCTCAGCACTTTGGCAGGCTGAGGCAGGAGGATTGCTTGAGAGCAGGAGTCCAAGATCAGCCTGGACAACATAGCGAGACCCCATTTCTACAAAAATTTTAAAAGTTGTTAACAAGGAGCCGGGCATAGTGGCGCATCCCTGTAGTCCTAACTACGCAGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGAGTTCAAGGTTGCTGTGGGCTATAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGAAGGATCTTGTCTAAATAATAATAATAATAATAATAATATAAAATTAAAAGGTTCTGTT
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TGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATTTATCCTATTTTCAGATGATACCTTCTAAGGGGATATATCAGTCCCTAGGAGGTGAACAACGAATAGACAGGGGAAAGTCCTCCTCAGGGTCATCTGTCTGGGAGTTTAGGAGATAGCCCTGTTCTCCTGTTTCCCAAGGCAGAGTCTGTGACCTGATACCACTAAGCACTCACTTCTCTTAGAAGTGCAGCTGCTTCTGGAATTTAGTCTCCCAGCAGGAGAAATAAGAGTAAATAAATGTCCAGTGGAATCCACAGCAGACCCACCCTCACCTTCAGTTTTATTGTTTTGCTCCAAACATAACTCTGCTGCTTCCACTGCTCTGGGGCTGGTAAAAATGAGTCCCCCGTAATCTTCAGGATGAGAAAGCTGCACACCAAAAAGCAATAAAGACATTTTATACGATGGCTATGTTCAACATCTTCCAAGGAGCTAAGACTCAGAATTCCAAATGCTTCACAATAGTAGTAGGCAAACTAATTCCTTCCACCCATCCCCCCAACACTTACTGAGTGCTTACTATGTGCCTGGAACTATTTATTCTAGGACTTTTAGGGTACACAGGTGAATTCCTTATTCCCAGTATTTCCCTCAGGAAGCTCAGAGTCTAGGGCAGAGACAGTGAAACACAGGGTGATAAGTGCACTGCAGCACAGAGGGGAAGCCTGACGCAGCCTGGGATTAGAGTGGGGTGCAGGTAGTGGGGGAAGACTTGACCCGAATCTGTAATAAAAATGGGAATATTCAGGGGGTGATATCAATGCTGAAGTCCTGATTTTCAAAGAGGATAATGGTGATATCATCTACCGAACATTTACTCTGAGCCAGGCACTAGGCTGCTGTACATATCTGACTTCACTGAAGCTGTGGGCACTGAATTTTCACTCTGAAGCATTTGGAAGGCTTTACTGGACTTGTCTCCTGCAATTTTTATCACTCCTCACTGGAAGAAGAACTGAAGTTGTGGGCAGAAGCCCTGGGTTTGAGTCCCAGCCCTGTCTCTTACTTGCTAGAGGTCTTAGCTGAGTTGCCTAATTTGAGACCCCAATCTCTAAAACGGGAAAATAATACCTCCCTGGCCTGCTTTGCAGAAGTTGGGGGTGAGGGGTAGATTAAATGAGAGGATGAGTGAAAGGGTTCTAGGACTGCTGAGAGCAATGCAGGTTTGCTGCTCTCACCATGACCTGCTCTCCTGGGCCCCAATCTCTGAGTCTGGGTGGCTTTCTGGAGGGGCTGATAGAGGCTCAGTCAGAACCTCCCAACAGCAGCAGCCTCCTGGAGCCAGGTGAAGTTATGCTGCCATGTTTTAAAGTTTGGGAATAAAATAAGAAGACAGTAAAATAGTCCCTCTCTGGCTTCAGCTGGCAAGGGAGAAATCAAACACTAACATGGTGCTCAGTCACAACAGGCCTTACCTTCTCAGAGAAACTGGGAAGAGACAAAAACTCAAACGATAAAACAGGGATCAAAGTGGCTTCAAGTCCATATAATCCTAATTCCTGAAATGAAAGAATATAGTTCTGGATTGGCTAGGGCTGTTTTTAAAATAAGGGAACATTAACAATTTATTCTGCGTCAGTTCCTCTGAGGTTTTGCAAAACCCATCCCTGCCTGCTCCAGGCCCCTTGACTCAGTAGAAAGGACACTGTGGGATAAGGAGTCTCAGGCCACTTACCCTGATATACGGATCCTGGCCACAGTCATCTTCCTTCGCATCCTTCAGTAAAAAAACCTTCATTATTGCCTGGCAGTCCTTATAGGGCACTGCGACAGAGCAAGGAAACAGATCTTAATTAGATCTCAAAGACTCTTCCTAAGCAATTTCCGATGGGGACGGTACACAAGAAGAAGGCAATCAAATGCTTGTGGAAGAGACCTATCCCTCCTACACCATGACTTAGCACTAATGGGCTTGTTCTTTCTGAAGACCCCTGTCACTGATAAGGCCAAGAAAGAGCATGTTAGCAGTTGATATCACTTGGAAAGACAGATGAAACCATTAGTGAAAGCCAAGTGTCCTATGCCAAACGTTTATGGTTCCGGAAAGAGAACTGATGTAAATTTAGGGTTGTATCAACAACAAACAGAGAAATTGGTATCTTATGTTTTAAGGAGATAAATAGCTTTTCCATTTCAAGATAAATATGCTAAGTAGCTCATAAGCACTTTGGGAAATAATTATATTGACTCTTCTACTTATTAAATGATGTTTTCTAAACGTCAAGTATCATAAGAGAGTCTAACAACATGGAAAACGATTTGTTGACATCAAAAGCTTTATATACTTCATCTTCTTTCTTCCTGTAATTTCACTTCTAAGAATACTAAAGCAATACTGATAAATGTGTCCAAAGATTAACATAAAGATGCTCACACTAGAATTCTTTTGGGTCTCGTTGGGTCATATTAGGGAATGTGGCTCTTATCTTAATAGCAACGGGAAGCTTCTTGTTTATAGATGTATTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGCAGGGTTTCACCATGTTGCCCAGGCTAGTCTCGAACTCCTGAGCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGAGTGAGCCACTGCACCCAGCCTTATAGATGTATTTCTCCTCTCTTTTCCTCATTTCTGCTTGCCCTTTTACCTTCTCCCTTCTCTAAGGTGATAATATAAGGAAGGAAGTATGGTGTCACAGAATAAGCACAGGACTAAGGGCCAACGGACCTGAGCTCTGGTCTCAGCTTTATGACTTAACCATGGTGTGATCTTGTTTTTTCCCATGTTAAATGGGAATAACCTCTGCCCTACCAAGCCTTAGGGTTGCTGAGTGACTCAAAGAAGATAAAAACAGCGAACAGATCTATTGAACTTACTGCCTCCCAGGCACTATTCTAAGAGCTTCACATGCATTAAGTCCACCTACGAGGCTTAGGAAGAAGCTGAGGTGTACAGAGGATGACACTCATCCAAAGTCTCAGAATTGCTACGTGGCAGAGCTGGGATTCACACCCAACCAGTCTGGCTCCAAAGTCTGTGCTTTTAACCCCCTACGCTATATTATGCCTCACATACACTTTGAATACGAAAATGTTTGGGAAAAATAGAGGTATAAAAATATAAAGTATCACTGTAGTACAAAGTGCTTAGTTTAGTTATGCAAACACCCCAAAGAAAAATCAATCTACCCATTGTAAACAGAGAAAATATTTCTCCTGGGTTCTAATCTGTGGTTCTCTTAGGTAATAAAACCGATGCTGGCATGAAGTTTAGGCTTCTGGATAATAAAGAGCTCCCTGAGATGTGTTGCAAATAAAAATCCAACTACTACCCTTATCCTTTATCTGACGTCACTGAAAGCATTTGTCTTCTTTTTTAATCCTGTATACAATCATTCCCAAACACTGAAAGCATTTCTAATATAAAATTAGGCCAGGACAGTGGTTCATGCCTGGTAATCTCAGCACTTTGGCAGGCTGAGGCAGGAGGATTGCTTGAGAGCAGGAGTCCAAGATCAGCCTGGACAACATAGCGAGACCCCATTTCTACAAAAATTTTAAAAGTTGTTAACAAGGAGCCGGGCATAGTGGCGCATCCCTGTAGTCCTAACTACGCAGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGAGTTCAAGGTTGCTGTGGGCTATAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGAAGGATCTTGTCTAAATAATAATAATAATAATAATAATATAAAATTAAAAGGTTCTGTT
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Task1_train_14714
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Gene EBF3 (EBF transcription factor 3) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hypotonia, ataxia, and delayed development syndrome
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ACTTTCCTTAAAGGATGTGGGACTGATGTAGAGCCAGCCTCCCACCCCTGCAATCTGTCCTGAGCAGGCAGAAGGAGGGAAGGGGTTTGGGGGACAAATATGCGCAGACTTAAAAGGAACTTCCTAAGTGTCAACTCTCTCAGGAAGTGACAGAAGCATAAGCCCTGCCATTTTTTTCTAGGGCACTTGATAACTGGGTATTAATTACAAAAAAATAAATAACCCTACTATTTATGACAAATGCCTTTTTCTTAACGATCTGTCTATGCTAGTCCTCAGAGTCACCCTATTGGCATTTTTAAATTAGTAGTCACTTTCTAGGGTGGGACAAGATATTTCAATCTCTTGCAAGGAACTGACTTGGTTTAAATGTCGAGAAACAAACAGGAAAAAATCCTGAGCAAGACTGCTTCTGCAAATAGCTTTTGATTAGTTGGGTTTTATCTCCAAGGTACCCACTAGTGGCCTTTATTTCTCTAAACGCTACATTTTCTGCTTACAGTCAAATGCTTTTTCATGCTACTTACAAAAATAAATACTTGTACTTTGCTCAGATCATAATAGCTCATTAGAGGAGGCTGATTTTGGACCTAGACTACAACCTAACACCAGAGGGCTGGGGAGGCCCCTTGAACCTATTGCGTGAAAGCTCCACTCTCTAGGGAAGCGAGGAACTGAGGACCGGGGATTCAACCTTCTTAATTGTGAACCTCATTAGTGACGGTTGCTAAGCAAAACACACACCTACCTTCAGTGCATGGGAAGGAGATAAACAATACGTCACAGGCTCTAATGACATCGGTGCTTAGGGCGACCTTTAATTATTATATTTTTGTTCTCTTATACCTTAGTCATTAATGTAGAAAAACAAATTAGTTTATTTTTGTGGACCACAGCAGATTCATAAATTGTCTTCCAGTTTTTGTCTGAATTATATTTCACGCTGATAATCTGCACACGCTTCATTCATTTTCCTGTGCGTGCATCTGTCTGCCTCGTGTGTGGCTCTCGAATGTGGGACCTCGGGATAGAGGATTTGTCTTAAAACCATTTAGTTTTACAGGCTCTTTGCTCTAAAGGATTCGATCATGCTGTTTTGTTTGCAATTCACTTAAAAAAACACTCACATTACTTTCTCCACAATTCATATTGGTCAGAATCTCGTAATTATTATGAAATGTTTAATGGGGGAAGTGGCTCTTATTCTAAAGGGGATGTGTTCAATTGTGGGTGCTGTGCAGAGCACAAAGTGGGATGTGCCTGAGGGGCTCGGCGCAAGGCCCACTGTGTCTGAGTCTTTCTGCATTCCGACCTGATATCCAAGAACCTTTCTCCCTACCTACCACCCTTATGGAAACCCTTCTCTTTTAACAAACAAAATAAGAAGTCAATCAATTGAAAGCATTTGGTTAAAAAAAAAAACGTATGCTGGTTGGTATTTCACCCCCTCCTCCTTGCCCCCACTCTTGTGTGAACACGCACATACACGTGGATCACATGCACACGCACTCCAGCCAGGGACAGGAAATGGTCCTGTCCCTTCGGAGCTGACTGGACCAGGATGTAACCACCCACTGGGCCTGCACGAGGTATCTGGGTATGAGCTTCTGGATGGGCGCTTCCGACAAACCAAAATAAAACCAAATAAATTAAAATCGCAAGAAAAGCAGTAAGCAAAAGAACGCCTGGAAACATGAAGGCCGTGGCAGGTGAATGGGAAAGTCCCGCTGTTCAATAAAGGAGAAGAGAAAGCCTAGGAGGGCTGTCTCCCCTTCCACCTCGGGGACACCCCCTCATCCTGCCTTGGTGCAGGAGGTCTGACCAAGGGCGGGGGCCTGGTGAGAGTAACTCCACATGAATGAACATAAAGGATGGTGCAAAGAAAAAGAAGCATCGCAAATAAAAAAAGACATGTAACATGTGCCTACCATTTTCCAGATAAGAAGGGGCCGTACCTTCTGACGGGTCTAGGCGGCGGGCCCGCCTCCCGTGTTTGGAATTGTTGTGCACAAACATGTTGTCTGACACGGCCAGCACGTGGCCGTCCACGTTGACTGTTGTCGATACAACAACCTGCAAAGATGAAGTGGATTTGAAAATGGAATTGGCAAAGAAAAGCAGAGCCCCCTGTTAGGCAAAATACAAGCCATCTTAAATACTGCAGAGCACAAGGAAATTTCACGTGTTCCTGGACACTGTTGATCGATGTGCGTTCACAGCTTTTTTGGCTAATGGGGGTGGGTGGGTTGTTTTGTTTGTTTTGTTTTGACTCAAGATTGCTTCTCTTCAAAACCTGCTCCACTAATTACAGTTTAATCTCCTATTATGCTAACAAGTGAATTCAATTCAGAGAAATATTCTTCTAGCCATTAGCTTCAGAAACACCCCTCTAGCCACTCATTTTAAAGCCGCTGTTTTGATTGATCTGTTCACATATTGATTAGAAAGTTTATCTAATTAAAATGAGTTCACTTGAGACTGGCCTCCCTTGAAGAGCTGGGAGGATTCAGAGTTGCCCAAAAAAGGCTTCATAAATCAGGAACATTCCTACTGCCCACATTTTATCAGGAAACGATCCCTGGGTCAATTTTACAATTACATTTAATGTCTGGTAATGAACTTTTTTTCATCTGAAAAGACTGAGTTGAATATGAATAGTGGGAGTGTTTTCAATCCTGGAAAGGTATTCTTTCTCAAGTTCATTGCAAAGGCTGGCAAGGACCCTGGTATGCCAAGGGAATGTCCTCTCTGTTGCGGTGAGAGGCTTCCATTCTTAGGTCCAGGCACAAAGGATGTCGAGGGGAGAGATCACAGATCAGGCCCTCTTAAGCCCTCAGCTGCCTCGTGGTAGAGGGAGAAACGAAAAGGGCCAGGCAGGGATGGCCTTGCAGACTCCATAGACCTGCCCAGGGGAGCTTGCCACAAACATCCAGAAATGGCATCCCTGAATGGACCCAGGAACCAGGAAATGACAACCTGGCCCTGAGCTTTCTTTAACAGAGGTGGTGCATTCATCCCGGACTAGCTGGAGCTGCAAAGATCTGAGGCCAGGTTTCATCTGGGTCTTGCAGAAGCACTCCTGGAGCTTCAGCCCAGCTCTGACCTGAAGGAAGGGTGGCTCTCTGCCACAGTTTGGGCACACTCGGCCATGTCTTTGAGTCAGCACCACCCGAGGGAACCACAGCCCTACAGAGAATTGTGCGGTGGTTGCACGTGAGTGGAGAAGCGGAAGGGGTTCCCAGTCAGGGTACACCTTCCCTGCAAGGCCCAGACAAAGCACGCCATGCAAAATGAGCTTAAAAGCCAAGGCCACCATAGGCCTTAGTGAATCGCGACACATCAGTGTTGGGTCCGCACATGTAAGGAATCCCCTGCACCAGCATAATCGGGGAAACCAGGGGGAGGGGCGCACGGGGGTACACGGGCGATCTCTGTACTTTCTGCGAAATTGTTTTTAAACCTAAACTTCTCTAAGAAAAATAAAGCCTATTAATAAAATAATTAAACTAGTTACCTAATACAAAATGAATACAATTCATTGTATTCAATGAGTCACTGAATATAAAATAATTAAACATACAAATAAGTAGTATTTTCAGGGGTTTAACAAAGAAGCCAAAGCTTATGTTTATATATGAATACATGTGCAAGTGATGGCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACCCCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTTCCTCAGCCTCCCTAGTAGCTGGGATTACAAGCACTGCCACTGCACCTGGCTAATTTTTTGGCATTTGTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCACCCGCCTCAGCCTCTCAAAGTGCTGGGATGACCGGCGTGAGCCACCGCGCCCGGCCGGCTTTTTCGTTTTAAATCTCAGACTCCACAAGATGATGATGCAGCAGGGGCGGTACACACGCATCCCACCCAAATGCCCTCATCGGGGGCAGCTTCCCTGGCATTTCTTCCCCTTGGCCACTG
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ACTTTCCTTAAAGGATGTGGGACTGATGTAGAGCCAGCCTCCCACCCCTGCAATCTGTCCTGAGCAGGCAGAAGGAGGGAAGGGGTTTGGGGGACAAATATGCGCAGACTTAAAAGGAACTTCCTAAGTGTCAACTCTCTCAGGAAGTGACAGAAGCATAAGCCCTGCCATTTTTTTCTAGGGCACTTGATAACTGGGTATTAATTACAAAAAAATAAATAACCCTACTATTTATGACAAATGCCTTTTTCTTAACGATCTGTCTATGCTAGTCCTCAGAGTCACCCTATTGGCATTTTTAAATTAGTAGTCACTTTCTAGGGTGGGACAAGATATTTCAATCTCTTGCAAGGAACTGACTTGGTTTAAATGTCGAGAAACAAACAGGAAAAAATCCTGAGCAAGACTGCTTCTGCAAATAGCTTTTGATTAGTTGGGTTTTATCTCCAAGGTACCCACTAGTGGCCTTTATTTCTCTAAACGCTACATTTTCTGCTTACAGTCAAATGCTTTTTCATGCTACTTACAAAAATAAATACTTGTACTTTGCTCAGATCATAATAGCTCATTAGAGGAGGCTGATTTTGGACCTAGACTACAACCTAACACCAGAGGGCTGGGGAGGCCCCTTGAACCTATTGCGTGAAAGCTCCACTCTCTAGGGAAGCGAGGAACTGAGGACCGGGGATTCAACCTTCTTAATTGTGAACCTCATTAGTGACGGTTGCTAAGCAAAACACACACCTACCTTCAGTGCATGGGAAGGAGATAAACAATACGTCACAGGCTCTAATGACATCGGTGCTTAGGGCGACCTTTAATTATTATATTTTTGTTCTCTTATACCTTAGTCATTAATGTAGAAAAACAAATTAGTTTATTTTTGTGGACCACAGCAGATTCATAAATTGTCTTCCAGTTTTTGTCTGAATTATATTTCACGCTGATAATCTGCACACGCTTCATTCATTTTCCTGTGCGTGCATCTGTCTGCCTCGTGTGTGGCTCTCGAATGTGGGACCTCGGGATAGAGGATTTGTCTTAAAACCATTTAGTTTTACAGGCTCTTTGCTCTAAAGGATTCGATCATGCTGTTTTGTTTGCAATTCACTTAAAAAAACACTCACATTACTTTCTCCACAATTCATATTGGTCAGAATCTCGTAATTATTATGAAATGTTTAATGGGGGAAGTGGCTCTTATTCTAAAGGGGATGTGTTCAATTGTGGGTGCTGTGCAGAGCACAAAGTGGGATGTGCCTGAGGGGCTCGGCGCAAGGCCCACTGTGTCTGAGTCTTTCTGCATTCCGACCTGATATCCAAGAACCTTTCTCCCTACCTACCACCCTTATGGAAACCCTTCTCTTTTAACAAACAAAATAAGAAGTCAATCAATTGAAAGCATTTGGTTAAAAAAAAAAACGTATGCTGGTTGGTATTTCACCCCCTCCTCCTTGCCCCCACTCTTGTGTGAACACGCACATACACGTGGATCACATGCACACGCACTCCAGCCAGGGACAGGAAATGGTCCTGTCCCTTCGGAGCTGACTGGACCAGGATGTAACCACCCACTGGGCCTGCACGAGGTATCTGGGTATGAGCTTCTGGATGGGCGCTTCCGACAAACCAAAATAAAACCAAATAAATTAAAATCGCAAGAAAAGCAGTAAGCAAAAGAACGCCTGGAAACATGAAGGCCGTGGCAGGTGAATGGGAAAGTCCCGCTGTTCAATAAAGGAGAAGAGAAAGCCTAGGAGGGCTGTCTCCCCTTCCACCTCGGGGACACCCCCTCATCCTGCCTTGGTGCAGGAGGTCTGACCAAGGGCGGGGGCCTGGTGAGAGTAACTCCACATGAATGAACATAAAGGATGGTGCAAAGAAAAAGAAGCATCGCAAATAAAAAAAGACATGTAACATGTGCCTACCATTTTCCAGATAAGAAGGGGCCGTACCTTCTGACGGGTCTAGGCGGCGGGCCCGCCTCCCGTGTTTGGAATTGTTGTGCACAAACATGTTGTCTGACACGGCCAGCACGTGGCCGTCCATGTTGACTGTTGTCGATACAACAACCTGCAAAGATGAAGTGGATTTGAAAATGGAATTGGCAAAGAAAAGCAGAGCCCCCTGTTAGGCAAAATACAAGCCATCTTAAATACTGCAGAGCACAAGGAAATTTCACGTGTTCCTGGACACTGTTGATCGATGTGCGTTCACAGCTTTTTTGGCTAATGGGGGTGGGTGGGTTGTTTTGTTTGTTTTGTTTTGACTCAAGATTGCTTCTCTTCAAAACCTGCTCCACTAATTACAGTTTAATCTCCTATTATGCTAACAAGTGAATTCAATTCAGAGAAATATTCTTCTAGCCATTAGCTTCAGAAACACCCCTCTAGCCACTCATTTTAAAGCCGCTGTTTTGATTGATCTGTTCACATATTGATTAGAAAGTTTATCTAATTAAAATGAGTTCACTTGAGACTGGCCTCCCTTGAAGAGCTGGGAGGATTCAGAGTTGCCCAAAAAAGGCTTCATAAATCAGGAACATTCCTACTGCCCACATTTTATCAGGAAACGATCCCTGGGTCAATTTTACAATTACATTTAATGTCTGGTAATGAACTTTTTTTCATCTGAAAAGACTGAGTTGAATATGAATAGTGGGAGTGTTTTCAATCCTGGAAAGGTATTCTTTCTCAAGTTCATTGCAAAGGCTGGCAAGGACCCTGGTATGCCAAGGGAATGTCCTCTCTGTTGCGGTGAGAGGCTTCCATTCTTAGGTCCAGGCACAAAGGATGTCGAGGGGAGAGATCACAGATCAGGCCCTCTTAAGCCCTCAGCTGCCTCGTGGTAGAGGGAGAAACGAAAAGGGCCAGGCAGGGATGGCCTTGCAGACTCCATAGACCTGCCCAGGGGAGCTTGCCACAAACATCCAGAAATGGCATCCCTGAATGGACCCAGGAACCAGGAAATGACAACCTGGCCCTGAGCTTTCTTTAACAGAGGTGGTGCATTCATCCCGGACTAGCTGGAGCTGCAAAGATCTGAGGCCAGGTTTCATCTGGGTCTTGCAGAAGCACTCCTGGAGCTTCAGCCCAGCTCTGACCTGAAGGAAGGGTGGCTCTCTGCCACAGTTTGGGCACACTCGGCCATGTCTTTGAGTCAGCACCACCCGAGGGAACCACAGCCCTACAGAGAATTGTGCGGTGGTTGCACGTGAGTGGAGAAGCGGAAGGGGTTCCCAGTCAGGGTACACCTTCCCTGCAAGGCCCAGACAAAGCACGCCATGCAAAATGAGCTTAAAAGCCAAGGCCACCATAGGCCTTAGTGAATCGCGACACATCAGTGTTGGGTCCGCACATGTAAGGAATCCCCTGCACCAGCATAATCGGGGAAACCAGGGGGAGGGGCGCACGGGGGTACACGGGCGATCTCTGTACTTTCTGCGAAATTGTTTTTAAACCTAAACTTCTCTAAGAAAAATAAAGCCTATTAATAAAATAATTAAACTAGTTACCTAATACAAAATGAATACAATTCATTGTATTCAATGAGTCACTGAATATAAAATAATTAAACATACAAATAAGTAGTATTTTCAGGGGTTTAACAAAGAAGCCAAAGCTTATGTTTATATATGAATACATGTGCAAGTGATGGCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACCCCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTTCCTCAGCCTCCCTAGTAGCTGGGATTACAAGCACTGCCACTGCACCTGGCTAATTTTTTGGCATTTGTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCACCCGCCTCAGCCTCTCAAAGTGCTGGGATGACCGGCGTGAGCCACCGCGCCCGGCCGGCTTTTTCGTTTTAAATCTCAGACTCCACAAGATGATGATGCAGCAGGGGCGGTACACACGCATCCCACCCAAATGCCCTCATCGGGGGCAGCTTCCCTGGCATTTCTTCCCCTTGGCCACTG
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Task1_train_14715
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A variant affecting Chromosome 10, within the gene EBF3 (EBF transcription factor 3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hypotonia, ataxia, and delayed development syndrome
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CCCTGGTGGGAGGTGGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGAAGGGTAAAGAGTGTAGTTCAGCAGAGAGAGCAGGCAAGCTGTGCTCTGTGTCTCACCTGGGCTGTAGCACCTACAGAAAGCTGCTGAGATTGTGAAAGCAGCTGAAACTATTGTGTAAGCACTGCCATCCTCCTAGGTCAGTTACACCTTCTGAGAGGCATGGGGCTCAGCTAAAGAGACCAGAGGAAGTTCTAGTAACTACGGGGTCTGCAGTCAACCACGAGATCACCTGTAACTGACGCTGTGTTCAGTCATTGGTGAGACAAAGAGGACACAGCCCCTCAGCCCTGCCTGACTTCCATTCTGCTTAGAAGGATCAATATCACCAGTATCCTGTGAAGCCTAGTGCGTGACAAATGGAAGCAGACCCAACTGTTCGCAGGAAACACTGTCCCCAGCTGCAGACATGACTGTGGGCGGGCCCAAAGAGCCCGCCTCCTCTGACCAGCTGACCGGGCAGGCATGGAGACAGATGTCACGTGATTCACTAAAGGACTGAGGCATAAGTTAAATTTCTGAGAAATGCTTTGAGCTATTTGATGGAAAAACTGGGTAAATCCCAAACAGGAATCATTCTGCTCTTGGGTCATTCATCCAAGCTAGTGGTCATTTCCATTAGCCGCCAAATTCTTCTCTGGCTGGTTTTGTATTCTAGCCCAGACTATTTTTACAATTAAAATTAGCAAAATCATCCAATGTGTTTACCCTGAATTAGCTTCCTAATCATTCACAAAAAAGGCAAGAAAAATATGAATCTATCATAATGGTACATAAATCTATCATAATTCATCCCTGAACCCCCCCCCCCCCCCCACCCAGCTACCCCTCTGTATCCGTCTTTTGGATAAAATCTTCTGAGGCAAACCAGAGACAGGACTTAGCCTGAGTTTAGGAACAGATGCAACTAGCATGGAAAGTGGGCAATAAGAACACAGTAAACCTCGGGGGAAGGAAGCCGAGGCCAGGAAGAGACTCTGGCAGTTGCAGAGGTCTGTACTAAGCAGGTGCAGATCCCTCTATGAGGAGGATCTCAGATCTGGAGTATTCCCAAAAGGTTGCATTATAGTTCTCCTCCCACTGAAAATCAATCCCTCAATCAATCCCAAAAGAAGCACTTCTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCAGAGGCCAAGGCAGGCGGATTACTTGAGGTCAGGAGCTTGAGACCAGCCTGGAAAACATATTGAAACCCCATCTCTACTAAAAATACTGGGTGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCTAGCCTGGGATACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAGCTTCCACATGGCCATGTTTTCAAAGCTAAGTTCGCTGTTCGCTATATTGTGCCCACATTAGACTTGATGAATCTGGCATACTGAATATACCAGATCATTCTTAAAGCATTTTATTTGCATATTTTTATCAAATGCACCAATTCCAGTTTGCTTCCAAGCCCTTAAAGAACTCAAGATTACTTCCTGAACAGTTGCAAATCAGAGAATTCAAATTTGGTATGAAAAGTCAGGACCACGGTCCACGTGTCTTTGAGAAATGTATACCTGGAATCTCCGCATATCTCGAGGGTTGCCTGCATTCTTCAAACAGTTCTGATTGCACTTGAGGAAAAACTTTAGAAAGAATCTATAAAAAATACAAAAAGATGATATTTATTAGGGTTATCAGACAAAAGACTCAAACTTTTTAAAAGACACTCTTGCGCAGGGAGGAGTGGAGACTCAACCCCACAGCTTCCACACTTCCCTCTAGGGGGCGACATTGAGAAGAGGCTCTGGGAGAGGCGGCGAGGAGGCACCCAGAAATAGCCACACAGGAGAGCAGTGAGTTGCATTTGCCTTGACGCTGTGGGTGTCCAAGCTTTATGATAATAGCTGCGACTTTCGCATTGGCATTTCTTGGCTCAATCTTTGCACAACTGCCCATTAACCATGGGGGAAACATTCAGCCCAGACAGGCCTACCATCTCAACCCACTAAAAATGAAGGATGCCTAGTTAAATTTGAATTTTGGATAAACAAAAAATAATGTCCCAAAGCATACTCCTCACTAAAAAATTGCTGTTGACCTGAAATGGAAATTTCACTGGATGTGCCATATCTTATCTGGCAACCCTAATTCCAGAGGCTACCACTGCCTAAGCAAACACACTTTTAAATATGGGTTTTAAGAGTTACAGTAGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATGACTTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCAGGTGCGGTGGCATGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTTCAGTGAGCCGAGATCGTGCCAGTGCACTCCAGCCTGGTTGACAGCTCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTTACAGTAGGTACAGCTCTTAAAAAGCAATTGGGGGGTGGGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCGGAGATTGCACCACTGCACTCCAGCCTGGGCAACACAGTGAAAATCGGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTAAGAACTGATTGGGAGGCATATTGTTTTAACCAAGAATTCTTGAGGCGGTAATGAAACTGTTGCTGAGGCAGAAAGCAAGGAACAGCACTCTGCAGGGCTGGGGAGGTGAGGCCGAAGCGAGTGCTATTTCCATTTCCCGCCATGCCTTGCCCTTATGTTTCATGGCATGAAGATTCAGGGGTCCTGACAGTGTGTTGAGATGCTGTGACTAAAACGTCATCATGTTGTCCTCCGCATTCCTGCATGCTCAGTGACATTGCAGGAGAGCTGGCTTCCAGTCTGAACTCAAAGAACCTGGGAAGCCAGGCTCTACCACTACCCACAGGAAAAGTGGGTGGGGGGGTTTCTCCCTGTATAACCTCTGCCTCAACTTGAAAAGGCCACAACCAAGAGGTCCCAGAGCTTGGGTCTGTGCTGAAACACCCACTCTCTGCACGTGGCCAAGCATCCTGTCCAGCAAGGTCATCAACACAAACCTTTCTCTACTTCCTCCCAAAATATCATCTGTCCTACTTGGTGATTATTAATTTTTGATGAAGTTTCACATGATTTTCTTACGTTCAAGGTTCCTCGCTGGCAATTAGAATATCAGAAAATGAAAACACTCAACGGACCAAGACTCATCTAAGTGCCCCCCCAGCATATCCTGGATGACTTCTTACTGTGGCAGAAGAAAATCCAATTGATGGGGGAAAGAGTGGTGGCCACTTAATTAAATTTTCCTGCATACCATGAGGCCTCACCATTTTAGGCCAGAATTTACATCTTTTATTAACTCACCTCACCTATACACTTAGCTCACAATGCCTCTTCACACCATCTGCCATCAGCATACAGTAAGTCACTTGATATTCCACCCACCAATTTTTCCTAACAACCACTGTGCAATTAAACTCCACACGTTCCGCAGCGAGGTAAATGAGGCGCACCTGCGGCCACACTGCATTTGAACTGCATCAGAAAGGGCCTAACAAGGTGAGGGCGCCACCAAGTTATCGTCCTGTCAGG
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CCCTGGTGGGAGGTGGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGAAGGGTAAAGAGTGTAGTTCAGCAGAGAGAGCAGGCAAGCTGTGCTCTGTGTCTCACCTGGGCTGTAGCACCTACAGAAAGCTGCTGAGATTGTGAAAGCAGCTGAAACTATTGTGTAAGCACTGCCATCCTCCTAGGTCAGTTACACCTTCTGAGAGGCATGGGGCTCAGCTAAAGAGACCAGAGGAAGTTCTAGTAACTACGGGGTCTGCAGTCAACCACGAGATCACCTGTAACTGACGCTGTGTTCAGTCATTGGTGAGACAAAGAGGACACAGCCCCTCAGCCCTGCCTGACTTCCATTCTGCTTAGAAGGATCAATATCACCAGTATCCTGTGAAGCCTAGTGCGTGACAAATGGAAGCAGACCCAACTGTTCGCAGGAAACACTGTCCCCAGCTGCAGACATGACTGTGGGCGGGCCCAAAGAGCCCGCCTCCTCTGACCAGCTGACCGGGCAGGCATGGAGACAGATGTCACGTGATTCACTAAAGGACTGAGGCATAAGTTAAATTTCTGAGAAATGCTTTGAGCTATTTGATGGAAAAACTGGGTAAATCCCAAACAGGAATCATTCTGCTCTTGGGTCATTCATCCAAGCTAGTGGTCATTTCCATTAGCCGCCAAATTCTTCTCTGGCTGGTTTTGTATTCTAGCCCAGACTATTTTTACAATTAAAATTAGCAAAATCATCCAATGTGTTTACCCTGAATTAGCTTCCTAATCATTCACAAAAAAGGCAAGAAAAATATGAATCTATCATAATGGTACATAAATCTATCATAATTCATCCCTGAACCCCCCCCCCCCCCCCACCCAGCTACCCCTCTGTATCCGTCTTTTGGATAAAATCTTCTGAGGCAAACCAGAGACAGGACTTAGCCTGAGTTTAGGAACAGATGCAACTAGCATGGAAAGTGGGCAATAAGAACACAGTAAACCTCGGGGGAAGGAAGCCGAGGCCAGGAAGAGACTCTGGCAGTTGCAGAGGTCTGTACTAAGCAGGTGCAGATCCCTCTATGAGGAGGATCTCAGATCTGGAGTATTCCCAAAAGGTTGCATTATAGTTCTCCTCCCACTGAAAATCAATCCCTCAATCAATCCCAAAAGAAGCACTTCTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCAGAGGCCAAGGCAGGCGGATTACTTGAGGTCAGGAGCTTGAGACCAGCCTGGAAAACATATTGAAACCCCATCTCTACTAAAAATACTGGGTGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCTAGCCTGGGATACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAGCTTCCACATGGCCATGTTTTCAAAGCTAAGTTCGCTGTTCGCTATATTGTGCCCACATTAGACTTGATGAATCTGGCATACTGAATATACCAGATCATTCTTAAAGCATTTTATTTGCATATTTTTATCAAATGCACCAATTCCAGTTTGCTTCCAAGCCCTTAAAGAACTCAAGATTACTTCCTGAACAGTTGCAAATCAGAGAATTCAAATTTGGTATGAAAAGTCAGGACCACGGTCCACGTGTCTTTGAGAAATGTATACCTGGAATCTCCGCATATCTCGAGGGTTGCCTGCATTCTTCAAATAGTTCTGATTGCACTTGAGGAAAAACTTTAGAAAGAATCTATAAAAAATACAAAAAGATGATATTTATTAGGGTTATCAGACAAAAGACTCAAACTTTTTAAAAGACACTCTTGCGCAGGGAGGAGTGGAGACTCAACCCCACAGCTTCCACACTTCCCTCTAGGGGGCGACATTGAGAAGAGGCTCTGGGAGAGGCGGCGAGGAGGCACCCAGAAATAGCCACACAGGAGAGCAGTGAGTTGCATTTGCCTTGACGCTGTGGGTGTCCAAGCTTTATGATAATAGCTGCGACTTTCGCATTGGCATTTCTTGGCTCAATCTTTGCACAACTGCCCATTAACCATGGGGGAAACATTCAGCCCAGACAGGCCTACCATCTCAACCCACTAAAAATGAAGGATGCCTAGTTAAATTTGAATTTTGGATAAACAAAAAATAATGTCCCAAAGCATACTCCTCACTAAAAAATTGCTGTTGACCTGAAATGGAAATTTCACTGGATGTGCCATATCTTATCTGGCAACCCTAATTCCAGAGGCTACCACTGCCTAAGCAAACACACTTTTAAATATGGGTTTTAAGAGTTACAGTAGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATGACTTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCAGGTGCGGTGGCATGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTTCAGTGAGCCGAGATCGTGCCAGTGCACTCCAGCCTGGTTGACAGCTCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTTACAGTAGGTACAGCTCTTAAAAAGCAATTGGGGGGTGGGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCGGAGATTGCACCACTGCACTCCAGCCTGGGCAACACAGTGAAAATCGGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTAAGAACTGATTGGGAGGCATATTGTTTTAACCAAGAATTCTTGAGGCGGTAATGAAACTGTTGCTGAGGCAGAAAGCAAGGAACAGCACTCTGCAGGGCTGGGGAGGTGAGGCCGAAGCGAGTGCTATTTCCATTTCCCGCCATGCCTTGCCCTTATGTTTCATGGCATGAAGATTCAGGGGTCCTGACAGTGTGTTGAGATGCTGTGACTAAAACGTCATCATGTTGTCCTCCGCATTCCTGCATGCTCAGTGACATTGCAGGAGAGCTGGCTTCCAGTCTGAACTCAAAGAACCTGGGAAGCCAGGCTCTACCACTACCCACAGGAAAAGTGGGTGGGGGGGTTTCTCCCTGTATAACCTCTGCCTCAACTTGAAAAGGCCACAACCAAGAGGTCCCAGAGCTTGGGTCTGTGCTGAAACACCCACTCTCTGCACGTGGCCAAGCATCCTGTCCAGCAAGGTCATCAACACAAACCTTTCTCTACTTCCTCCCAAAATATCATCTGTCCTACTTGGTGATTATTAATTTTTGATGAAGTTTCACATGATTTTCTTACGTTCAAGGTTCCTCGCTGGCAATTAGAATATCAGAAAATGAAAACACTCAACGGACCAAGACTCATCTAAGTGCCCCCCCAGCATATCCTGGATGACTTCTTACTGTGGCAGAAGAAAATCCAATTGATGGGGGAAAGAGTGGTGGCCACTTAATTAAATTTTCCTGCATACCATGAGGCCTCACCATTTTAGGCCAGAATTTACATCTTTTATTAACTCACCTCACCTATACACTTAGCTCACAATGCCTCTTCACACCATCTGCCATCAGCATACAGTAAGTCACTTGATATTCCACCCACCAATTTTTCCTAACAACCACTGTGCAATTAAACTCCACACGTTCCGCAGCGAGGTAAATGAGGCGCACCTGCGGCCACACTGCATTTGAACTGCATCAGAAAGGGCCTAACAAGGTGAGGGCGCCACCAAGTTATCGTCCTGTCAGG
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Task1_train_14716
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A variant was discovered in gene EBF3 (EBF transcription factor 3), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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TGGGAGGTGGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGAAGGGTAAAGAGTGTAGTTCAGCAGAGAGAGCAGGCAAGCTGTGCTCTGTGTCTCACCTGGGCTGTAGCACCTACAGAAAGCTGCTGAGATTGTGAAAGCAGCTGAAACTATTGTGTAAGCACTGCCATCCTCCTAGGTCAGTTACACCTTCTGAGAGGCATGGGGCTCAGCTAAAGAGACCAGAGGAAGTTCTAGTAACTACGGGGTCTGCAGTCAACCACGAGATCACCTGTAACTGACGCTGTGTTCAGTCATTGGTGAGACAAAGAGGACACAGCCCCTCAGCCCTGCCTGACTTCCATTCTGCTTAGAAGGATCAATATCACCAGTATCCTGTGAAGCCTAGTGCGTGACAAATGGAAGCAGACCCAACTGTTCGCAGGAAACACTGTCCCCAGCTGCAGACATGACTGTGGGCGGGCCCAAAGAGCCCGCCTCCTCTGACCAGCTGACCGGGCAGGCATGGAGACAGATGTCACGTGATTCACTAAAGGACTGAGGCATAAGTTAAATTTCTGAGAAATGCTTTGAGCTATTTGATGGAAAAACTGGGTAAATCCCAAACAGGAATCATTCTGCTCTTGGGTCATTCATCCAAGCTAGTGGTCATTTCCATTAGCCGCCAAATTCTTCTCTGGCTGGTTTTGTATTCTAGCCCAGACTATTTTTACAATTAAAATTAGCAAAATCATCCAATGTGTTTACCCTGAATTAGCTTCCTAATCATTCACAAAAAAGGCAAGAAAAATATGAATCTATCATAATGGTACATAAATCTATCATAATTCATCCCTGAACCCCCCCCCCCCCCCCACCCAGCTACCCCTCTGTATCCGTCTTTTGGATAAAATCTTCTGAGGCAAACCAGAGACAGGACTTAGCCTGAGTTTAGGAACAGATGCAACTAGCATGGAAAGTGGGCAATAAGAACACAGTAAACCTCGGGGGAAGGAAGCCGAGGCCAGGAAGAGACTCTGGCAGTTGCAGAGGTCTGTACTAAGCAGGTGCAGATCCCTCTATGAGGAGGATCTCAGATCTGGAGTATTCCCAAAAGGTTGCATTATAGTTCTCCTCCCACTGAAAATCAATCCCTCAATCAATCCCAAAAGAAGCACTTCTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCAGAGGCCAAGGCAGGCGGATTACTTGAGGTCAGGAGCTTGAGACCAGCCTGGAAAACATATTGAAACCCCATCTCTACTAAAAATACTGGGTGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCTAGCCTGGGATACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAGCTTCCACATGGCCATGTTTTCAAAGCTAAGTTCGCTGTTCGCTATATTGTGCCCACATTAGACTTGATGAATCTGGCATACTGAATATACCAGATCATTCTTAAAGCATTTTATTTGCATATTTTTATCAAATGCACCAATTCCAGTTTGCTTCCAAGCCCTTAAAGAACTCAAGATTACTTCCTGAACAGTTGCAAATCAGAGAATTCAAATTTGGTATGAAAAGTCAGGACCACGGTCCACGTGTCTTTGAGAAATGTATACCTGGAATCTCCGCATATCTCGAGGGTTGCCTGCATTCTTCAAACAGTTCTGATTGCACTTGAGGAAAAACTTTAGAAAGAATCTATAAAAAATACAAAAAGATGATATTTATTAGGGTTATCAGACAAAAGACTCAAACTTTTTAAAAGACACTCTTGCGCAGGGAGGAGTGGAGACTCAACCCCACAGCTTCCACACTTCCCTCTAGGGGGCGACATTGAGAAGAGGCTCTGGGAGAGGCGGCGAGGAGGCACCCAGAAATAGCCACACAGGAGAGCAGTGAGTTGCATTTGCCTTGACGCTGTGGGTGTCCAAGCTTTATGATAATAGCTGCGACTTTCGCATTGGCATTTCTTGGCTCAATCTTTGCACAACTGCCCATTAACCATGGGGGAAACATTCAGCCCAGACAGGCCTACCATCTCAACCCACTAAAAATGAAGGATGCCTAGTTAAATTTGAATTTTGGATAAACAAAAAATAATGTCCCAAAGCATACTCCTCACTAAAAAATTGCTGTTGACCTGAAATGGAAATTTCACTGGATGTGCCATATCTTATCTGGCAACCCTAATTCCAGAGGCTACCACTGCCTAAGCAAACACACTTTTAAATATGGGTTTTAAGAGTTACAGTAGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATGACTTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCAGGTGCGGTGGCATGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTTCAGTGAGCCGAGATCGTGCCAGTGCACTCCAGCCTGGTTGACAGCTCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTTACAGTAGGTACAGCTCTTAAAAAGCAATTGGGGGGTGGGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCGGAGATTGCACCACTGCACTCCAGCCTGGGCAACACAGTGAAAATCGGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTAAGAACTGATTGGGAGGCATATTGTTTTAACCAAGAATTCTTGAGGCGGTAATGAAACTGTTGCTGAGGCAGAAAGCAAGGAACAGCACTCTGCAGGGCTGGGGAGGTGAGGCCGAAGCGAGTGCTATTTCCATTTCCCGCCATGCCTTGCCCTTATGTTTCATGGCATGAAGATTCAGGGGTCCTGACAGTGTGTTGAGATGCTGTGACTAAAACGTCATCATGTTGTCCTCCGCATTCCTGCATGCTCAGTGACATTGCAGGAGAGCTGGCTTCCAGTCTGAACTCAAAGAACCTGGGAAGCCAGGCTCTACCACTACCCACAGGAAAAGTGGGTGGGGGGGTTTCTCCCTGTATAACCTCTGCCTCAACTTGAAAAGGCCACAACCAAGAGGTCCCAGAGCTTGGGTCTGTGCTGAAACACCCACTCTCTGCACGTGGCCAAGCATCCTGTCCAGCAAGGTCATCAACACAAACCTTTCTCTACTTCCTCCCAAAATATCATCTGTCCTACTTGGTGATTATTAATTTTTGATGAAGTTTCACATGATTTTCTTACGTTCAAGGTTCCTCGCTGGCAATTAGAATATCAGAAAATGAAAACACTCAACGGACCAAGACTCATCTAAGTGCCCCCCCAGCATATCCTGGATGACTTCTTACTGTGGCAGAAGAAAATCCAATTGATGGGGGAAAGAGTGGTGGCCACTTAATTAAATTTTCCTGCATACCATGAGGCCTCACCATTTTAGGCCAGAATTTACATCTTTTATTAACTCACCTCACCTATACACTTAGCTCACAATGCCTCTTCACACCATCTGCCATCAGCATACAGTAAGTCACTTGATATTCCACCCACCAATTTTTCCTAACAACCACTGTGCAATTAAACTCCACACGTTCCGCAGCGAGGTAAATGAGGCGCACCTGCGGCCACACTGCATTTGAACTGCATCAGAAAGGGCCTAACAAGGTGAGGGCGCCACCAAGTTATCGTCCTGTCAGGCAATTA
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TGGGAGGTGGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGAAGGGTAAAGAGTGTAGTTCAGCAGAGAGAGCAGGCAAGCTGTGCTCTGTGTCTCACCTGGGCTGTAGCACCTACAGAAAGCTGCTGAGATTGTGAAAGCAGCTGAAACTATTGTGTAAGCACTGCCATCCTCCTAGGTCAGTTACACCTTCTGAGAGGCATGGGGCTCAGCTAAAGAGACCAGAGGAAGTTCTAGTAACTACGGGGTCTGCAGTCAACCACGAGATCACCTGTAACTGACGCTGTGTTCAGTCATTGGTGAGACAAAGAGGACACAGCCCCTCAGCCCTGCCTGACTTCCATTCTGCTTAGAAGGATCAATATCACCAGTATCCTGTGAAGCCTAGTGCGTGACAAATGGAAGCAGACCCAACTGTTCGCAGGAAACACTGTCCCCAGCTGCAGACATGACTGTGGGCGGGCCCAAAGAGCCCGCCTCCTCTGACCAGCTGACCGGGCAGGCATGGAGACAGATGTCACGTGATTCACTAAAGGACTGAGGCATAAGTTAAATTTCTGAGAAATGCTTTGAGCTATTTGATGGAAAAACTGGGTAAATCCCAAACAGGAATCATTCTGCTCTTGGGTCATTCATCCAAGCTAGTGGTCATTTCCATTAGCCGCCAAATTCTTCTCTGGCTGGTTTTGTATTCTAGCCCAGACTATTTTTACAATTAAAATTAGCAAAATCATCCAATGTGTTTACCCTGAATTAGCTTCCTAATCATTCACAAAAAAGGCAAGAAAAATATGAATCTATCATAATGGTACATAAATCTATCATAATTCATCCCTGAACCCCCCCCCCCCCCCCACCCAGCTACCCCTCTGTATCCGTCTTTTGGATAAAATCTTCTGAGGCAAACCAGAGACAGGACTTAGCCTGAGTTTAGGAACAGATGCAACTAGCATGGAAAGTGGGCAATAAGAACACAGTAAACCTCGGGGGAAGGAAGCCGAGGCCAGGAAGAGACTCTGGCAGTTGCAGAGGTCTGTACTAAGCAGGTGCAGATCCCTCTATGAGGAGGATCTCAGATCTGGAGTATTCCCAAAAGGTTGCATTATAGTTCTCCTCCCACTGAAAATCAATCCCTCAATCAATCCCAAAAGAAGCACTTCTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCAGAGGCCAAGGCAGGCGGATTACTTGAGGTCAGGAGCTTGAGACCAGCCTGGAAAACATATTGAAACCCCATCTCTACTAAAAATACTGGGTGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCTAGCCTGGGATACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAGCTTCCACATGGCCATGTTTTCAAAGCTAAGTTCGCTGTTCGCTATATTGTGCCCACATTAGACTTGATGAATCTGGCATACTGAATATACCAGATCATTCTTAAAGCATTTTATTTGCATATTTTTATCAAATGCACCAATTCCAGTTTGCTTCCAAGCCCTTAAAGAACTCAAGATTACTTCCTGAACAGTTGCAAATCAGAGAATTCAAATTTGGTATGAAAAGTCAGGACCACGGTCCACGTGTCTTTGAGAAATGTATACCTGGAATCTCCGCATATCTCGAGGGTTGCCTGCATTCTTCAAACAGTTCCGATTGCACTTGAGGAAAAACTTTAGAAAGAATCTATAAAAAATACAAAAAGATGATATTTATTAGGGTTATCAGACAAAAGACTCAAACTTTTTAAAAGACACTCTTGCGCAGGGAGGAGTGGAGACTCAACCCCACAGCTTCCACACTTCCCTCTAGGGGGCGACATTGAGAAGAGGCTCTGGGAGAGGCGGCGAGGAGGCACCCAGAAATAGCCACACAGGAGAGCAGTGAGTTGCATTTGCCTTGACGCTGTGGGTGTCCAAGCTTTATGATAATAGCTGCGACTTTCGCATTGGCATTTCTTGGCTCAATCTTTGCACAACTGCCCATTAACCATGGGGGAAACATTCAGCCCAGACAGGCCTACCATCTCAACCCACTAAAAATGAAGGATGCCTAGTTAAATTTGAATTTTGGATAAACAAAAAATAATGTCCCAAAGCATACTCCTCACTAAAAAATTGCTGTTGACCTGAAATGGAAATTTCACTGGATGTGCCATATCTTATCTGGCAACCCTAATTCCAGAGGCTACCACTGCCTAAGCAAACACACTTTTAAATATGGGTTTTAAGAGTTACAGTAGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATGACTTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCAGGTGCGGTGGCATGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTTCAGTGAGCCGAGATCGTGCCAGTGCACTCCAGCCTGGTTGACAGCTCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTTACAGTAGGTACAGCTCTTAAAAAGCAATTGGGGGGTGGGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCGGAGATTGCACCACTGCACTCCAGCCTGGGCAACACAGTGAAAATCGGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTAAGAACTGATTGGGAGGCATATTGTTTTAACCAAGAATTCTTGAGGCGGTAATGAAACTGTTGCTGAGGCAGAAAGCAAGGAACAGCACTCTGCAGGGCTGGGGAGGTGAGGCCGAAGCGAGTGCTATTTCCATTTCCCGCCATGCCTTGCCCTTATGTTTCATGGCATGAAGATTCAGGGGTCCTGACAGTGTGTTGAGATGCTGTGACTAAAACGTCATCATGTTGTCCTCCGCATTCCTGCATGCTCAGTGACATTGCAGGAGAGCTGGCTTCCAGTCTGAACTCAAAGAACCTGGGAAGCCAGGCTCTACCACTACCCACAGGAAAAGTGGGTGGGGGGGTTTCTCCCTGTATAACCTCTGCCTCAACTTGAAAAGGCCACAACCAAGAGGTCCCAGAGCTTGGGTCTGTGCTGAAACACCCACTCTCTGCACGTGGCCAAGCATCCTGTCCAGCAAGGTCATCAACACAAACCTTTCTCTACTTCCTCCCAAAATATCATCTGTCCTACTTGGTGATTATTAATTTTTGATGAAGTTTCACATGATTTTCTTACGTTCAAGGTTCCTCGCTGGCAATTAGAATATCAGAAAATGAAAACACTCAACGGACCAAGACTCATCTAAGTGCCCCCCCAGCATATCCTGGATGACTTCTTACTGTGGCAGAAGAAAATCCAATTGATGGGGGAAAGAGTGGTGGCCACTTAATTAAATTTTCCTGCATACCATGAGGCCTCACCATTTTAGGCCAGAATTTACATCTTTTATTAACTCACCTCACCTATACACTTAGCTCACAATGCCTCTTCACACCATCTGCCATCAGCATACAGTAAGTCACTTGATATTCCACCCACCAATTTTTCCTAACAACCACTGTGCAATTAAACTCCACACGTTCCGCAGCGAGGTAAATGAGGCGCACCTGCGGCCACACTGCATTTGAACTGCATCAGAAAGGGCCTAACAAGGTGAGGGCGCCACCAAGTTATCGTCCTGTCAGGCAATTA
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Task1_train_14717
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Chromosome 10 houses a mutation in gene EBF3 (EBF transcription factor 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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GGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGAAGGGTAAAGAGTGTAGTTCAGCAGAGAGAGCAGGCAAGCTGTGCTCTGTGTCTCACCTGGGCTGTAGCACCTACAGAAAGCTGCTGAGATTGTGAAAGCAGCTGAAACTATTGTGTAAGCACTGCCATCCTCCTAGGTCAGTTACACCTTCTGAGAGGCATGGGGCTCAGCTAAAGAGACCAGAGGAAGTTCTAGTAACTACGGGGTCTGCAGTCAACCACGAGATCACCTGTAACTGACGCTGTGTTCAGTCATTGGTGAGACAAAGAGGACACAGCCCCTCAGCCCTGCCTGACTTCCATTCTGCTTAGAAGGATCAATATCACCAGTATCCTGTGAAGCCTAGTGCGTGACAAATGGAAGCAGACCCAACTGTTCGCAGGAAACACTGTCCCCAGCTGCAGACATGACTGTGGGCGGGCCCAAAGAGCCCGCCTCCTCTGACCAGCTGACCGGGCAGGCATGGAGACAGATGTCACGTGATTCACTAAAGGACTGAGGCATAAGTTAAATTTCTGAGAAATGCTTTGAGCTATTTGATGGAAAAACTGGGTAAATCCCAAACAGGAATCATTCTGCTCTTGGGTCATTCATCCAAGCTAGTGGTCATTTCCATTAGCCGCCAAATTCTTCTCTGGCTGGTTTTGTATTCTAGCCCAGACTATTTTTACAATTAAAATTAGCAAAATCATCCAATGTGTTTACCCTGAATTAGCTTCCTAATCATTCACAAAAAAGGCAAGAAAAATATGAATCTATCATAATGGTACATAAATCTATCATAATTCATCCCTGAACCCCCCCCCCCCCCCCACCCAGCTACCCCTCTGTATCCGTCTTTTGGATAAAATCTTCTGAGGCAAACCAGAGACAGGACTTAGCCTGAGTTTAGGAACAGATGCAACTAGCATGGAAAGTGGGCAATAAGAACACAGTAAACCTCGGGGGAAGGAAGCCGAGGCCAGGAAGAGACTCTGGCAGTTGCAGAGGTCTGTACTAAGCAGGTGCAGATCCCTCTATGAGGAGGATCTCAGATCTGGAGTATTCCCAAAAGGTTGCATTATAGTTCTCCTCCCACTGAAAATCAATCCCTCAATCAATCCCAAAAGAAGCACTTCTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCAGAGGCCAAGGCAGGCGGATTACTTGAGGTCAGGAGCTTGAGACCAGCCTGGAAAACATATTGAAACCCCATCTCTACTAAAAATACTGGGTGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCTAGCCTGGGATACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAGCTTCCACATGGCCATGTTTTCAAAGCTAAGTTCGCTGTTCGCTATATTGTGCCCACATTAGACTTGATGAATCTGGCATACTGAATATACCAGATCATTCTTAAAGCATTTTATTTGCATATTTTTATCAAATGCACCAATTCCAGTTTGCTTCCAAGCCCTTAAAGAACTCAAGATTACTTCCTGAACAGTTGCAAATCAGAGAATTCAAATTTGGTATGAAAAGTCAGGACCACGGTCCACGTGTCTTTGAGAAATGTATACCTGGAATCTCCGCATATCTCGAGGGTTGCCTGCATTCTTCAAACAGTTCTGATTGCACTTGAGGAAAAACTTTAGAAAGAATCTATAAAAAATACAAAAAGATGATATTTATTAGGGTTATCAGACAAAAGACTCAAACTTTTTAAAAGACACTCTTGCGCAGGGAGGAGTGGAGACTCAACCCCACAGCTTCCACACTTCCCTCTAGGGGGCGACATTGAGAAGAGGCTCTGGGAGAGGCGGCGAGGAGGCACCCAGAAATAGCCACACAGGAGAGCAGTGAGTTGCATTTGCCTTGACGCTGTGGGTGTCCAAGCTTTATGATAATAGCTGCGACTTTCGCATTGGCATTTCTTGGCTCAATCTTTGCACAACTGCCCATTAACCATGGGGGAAACATTCAGCCCAGACAGGCCTACCATCTCAACCCACTAAAAATGAAGGATGCCTAGTTAAATTTGAATTTTGGATAAACAAAAAATAATGTCCCAAAGCATACTCCTCACTAAAAAATTGCTGTTGACCTGAAATGGAAATTTCACTGGATGTGCCATATCTTATCTGGCAACCCTAATTCCAGAGGCTACCACTGCCTAAGCAAACACACTTTTAAATATGGGTTTTAAGAGTTACAGTAGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATGACTTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCAGGTGCGGTGGCATGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTTCAGTGAGCCGAGATCGTGCCAGTGCACTCCAGCCTGGTTGACAGCTCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTTACAGTAGGTACAGCTCTTAAAAAGCAATTGGGGGGTGGGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCGGAGATTGCACCACTGCACTCCAGCCTGGGCAACACAGTGAAAATCGGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTAAGAACTGATTGGGAGGCATATTGTTTTAACCAAGAATTCTTGAGGCGGTAATGAAACTGTTGCTGAGGCAGAAAGCAAGGAACAGCACTCTGCAGGGCTGGGGAGGTGAGGCCGAAGCGAGTGCTATTTCCATTTCCCGCCATGCCTTGCCCTTATGTTTCATGGCATGAAGATTCAGGGGTCCTGACAGTGTGTTGAGATGCTGTGACTAAAACGTCATCATGTTGTCCTCCGCATTCCTGCATGCTCAGTGACATTGCAGGAGAGCTGGCTTCCAGTCTGAACTCAAAGAACCTGGGAAGCCAGGCTCTACCACTACCCACAGGAAAAGTGGGTGGGGGGGTTTCTCCCTGTATAACCTCTGCCTCAACTTGAAAAGGCCACAACCAAGAGGTCCCAGAGCTTGGGTCTGTGCTGAAACACCCACTCTCTGCACGTGGCCAAGCATCCTGTCCAGCAAGGTCATCAACACAAACCTTTCTCTACTTCCTCCCAAAATATCATCTGTCCTACTTGGTGATTATTAATTTTTGATGAAGTTTCACATGATTTTCTTACGTTCAAGGTTCCTCGCTGGCAATTAGAATATCAGAAAATGAAAACACTCAACGGACCAAGACTCATCTAAGTGCCCCCCCAGCATATCCTGGATGACTTCTTACTGTGGCAGAAGAAAATCCAATTGATGGGGGAAAGAGTGGTGGCCACTTAATTAAATTTTCCTGCATACCATGAGGCCTCACCATTTTAGGCCAGAATTTACATCTTTTATTAACTCACCTCACCTATACACTTAGCTCACAATGCCTCTTCACACCATCTGCCATCAGCATACAGTAAGTCACTTGATATTCCACCCACCAATTTTTCCTAACAACCACTGTGCAATTAAACTCCACACGTTCCGCAGCGAGGTAAATGAGGCGCACCTGCGGCCACACTGCATTTGAACTGCATCAGAAAGGGCCTAACAAGGTGAGGGCGCCACCAAGTTATCGTCCTGTCAGGCAATTAGGTTTTCA
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GGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGAAGGGTAAAGAGTGTAGTTCAGCAGAGAGAGCAGGCAAGCTGTGCTCTGTGTCTCACCTGGGCTGTAGCACCTACAGAAAGCTGCTGAGATTGTGAAAGCAGCTGAAACTATTGTGTAAGCACTGCCATCCTCCTAGGTCAGTTACACCTTCTGAGAGGCATGGGGCTCAGCTAAAGAGACCAGAGGAAGTTCTAGTAACTACGGGGTCTGCAGTCAACCACGAGATCACCTGTAACTGACGCTGTGTTCAGTCATTGGTGAGACAAAGAGGACACAGCCCCTCAGCCCTGCCTGACTTCCATTCTGCTTAGAAGGATCAATATCACCAGTATCCTGTGAAGCCTAGTGCGTGACAAATGGAAGCAGACCCAACTGTTCGCAGGAAACACTGTCCCCAGCTGCAGACATGACTGTGGGCGGGCCCAAAGAGCCCGCCTCCTCTGACCAGCTGACCGGGCAGGCATGGAGACAGATGTCACGTGATTCACTAAAGGACTGAGGCATAAGTTAAATTTCTGAGAAATGCTTTGAGCTATTTGATGGAAAAACTGGGTAAATCCCAAACAGGAATCATTCTGCTCTTGGGTCATTCATCCAAGCTAGTGGTCATTTCCATTAGCCGCCAAATTCTTCTCTGGCTGGTTTTGTATTCTAGCCCAGACTATTTTTACAATTAAAATTAGCAAAATCATCCAATGTGTTTACCCTGAATTAGCTTCCTAATCATTCACAAAAAAGGCAAGAAAAATATGAATCTATCATAATGGTACATAAATCTATCATAATTCATCCCTGAACCCCCCCCCCCCCCCCACCCAGCTACCCCTCTGTATCCGTCTTTTGGATAAAATCTTCTGAGGCAAACCAGAGACAGGACTTAGCCTGAGTTTAGGAACAGATGCAACTAGCATGGAAAGTGGGCAATAAGAACACAGTAAACCTCGGGGGAAGGAAGCCGAGGCCAGGAAGAGACTCTGGCAGTTGCAGAGGTCTGTACTAAGCAGGTGCAGATCCCTCTATGAGGAGGATCTCAGATCTGGAGTATTCCCAAAAGGTTGCATTATAGTTCTCCTCCCACTGAAAATCAATCCCTCAATCAATCCCAAAAGAAGCACTTCTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCAGAGGCCAAGGCAGGCGGATTACTTGAGGTCAGGAGCTTGAGACCAGCCTGGAAAACATATTGAAACCCCATCTCTACTAAAAATACTGGGTGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCTAGCCTGGGATACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAGCTTCCACATGGCCATGTTTTCAAAGCTAAGTTCGCTGTTCGCTATATTGTGCCCACATTAGACTTGATGAATCTGGCATACTGAATATACCAGATCATTCTTAAAGCATTTTATTTGCATATTTTTATCAAATGCACCAATTCCAGTTTGCTTCCAAGCCCTTAAAGAACTCAAGATTACTTCCTGAACAGTTGCAAATCAGAGAATTCAAATTTGGTATGAAAAGTCAGGACCACGGTCCACGTGTCTTTGAGAAATGTATACCTGGAATCTCCGCATATCTCGAGGGTTGCCTGCATTCTTCAAACAGTTCTGATTGCAATTGAGGAAAAACTTTAGAAAGAATCTATAAAAAATACAAAAAGATGATATTTATTAGGGTTATCAGACAAAAGACTCAAACTTTTTAAAAGACACTCTTGCGCAGGGAGGAGTGGAGACTCAACCCCACAGCTTCCACACTTCCCTCTAGGGGGCGACATTGAGAAGAGGCTCTGGGAGAGGCGGCGAGGAGGCACCCAGAAATAGCCACACAGGAGAGCAGTGAGTTGCATTTGCCTTGACGCTGTGGGTGTCCAAGCTTTATGATAATAGCTGCGACTTTCGCATTGGCATTTCTTGGCTCAATCTTTGCACAACTGCCCATTAACCATGGGGGAAACATTCAGCCCAGACAGGCCTACCATCTCAACCCACTAAAAATGAAGGATGCCTAGTTAAATTTGAATTTTGGATAAACAAAAAATAATGTCCCAAAGCATACTCCTCACTAAAAAATTGCTGTTGACCTGAAATGGAAATTTCACTGGATGTGCCATATCTTATCTGGCAACCCTAATTCCAGAGGCTACCACTGCCTAAGCAAACACACTTTTAAATATGGGTTTTAAGAGTTACAGTAGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATGACTTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCAGGTGCGGTGGCATGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTTCAGTGAGCCGAGATCGTGCCAGTGCACTCCAGCCTGGTTGACAGCTCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTTACAGTAGGTACAGCTCTTAAAAAGCAATTGGGGGGTGGGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCGGAGATTGCACCACTGCACTCCAGCCTGGGCAACACAGTGAAAATCGGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTAAGAACTGATTGGGAGGCATATTGTTTTAACCAAGAATTCTTGAGGCGGTAATGAAACTGTTGCTGAGGCAGAAAGCAAGGAACAGCACTCTGCAGGGCTGGGGAGGTGAGGCCGAAGCGAGTGCTATTTCCATTTCCCGCCATGCCTTGCCCTTATGTTTCATGGCATGAAGATTCAGGGGTCCTGACAGTGTGTTGAGATGCTGTGACTAAAACGTCATCATGTTGTCCTCCGCATTCCTGCATGCTCAGTGACATTGCAGGAGAGCTGGCTTCCAGTCTGAACTCAAAGAACCTGGGAAGCCAGGCTCTACCACTACCCACAGGAAAAGTGGGTGGGGGGGTTTCTCCCTGTATAACCTCTGCCTCAACTTGAAAAGGCCACAACCAAGAGGTCCCAGAGCTTGGGTCTGTGCTGAAACACCCACTCTCTGCACGTGGCCAAGCATCCTGTCCAGCAAGGTCATCAACACAAACCTTTCTCTACTTCCTCCCAAAATATCATCTGTCCTACTTGGTGATTATTAATTTTTGATGAAGTTTCACATGATTTTCTTACGTTCAAGGTTCCTCGCTGGCAATTAGAATATCAGAAAATGAAAACACTCAACGGACCAAGACTCATCTAAGTGCCCCCCCAGCATATCCTGGATGACTTCTTACTGTGGCAGAAGAAAATCCAATTGATGGGGGAAAGAGTGGTGGCCACTTAATTAAATTTTCCTGCATACCATGAGGCCTCACCATTTTAGGCCAGAATTTACATCTTTTATTAACTCACCTCACCTATACACTTAGCTCACAATGCCTCTTCACACCATCTGCCATCAGCATACAGTAAGTCACTTGATATTCCACCCACCAATTTTTCCTAACAACCACTGTGCAATTAAACTCCACACGTTCCGCAGCGAGGTAAATGAGGCGCACCTGCGGCCACACTGCATTTGAACTGCATCAGAAAGGGCCTAACAAGGTGAGGGCGCCACCAAGTTATCGTCCTGTCAGGCAATTAGGTTTTCA
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Task1_train_14718
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An alteration has been detected in EBF3 (EBF transcription factor 3) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Hypotonia, ataxia, and delayed development syndrome
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CTCACCTTAAAATCCCTAAAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAG
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CTCACCTTAAAATCCCTAAAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGAGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAG
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Task1_train_14719
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Here is a variant affecting EBF3 (EBF transcription factor 3) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Renal tubular dysgenesis
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGTCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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Task1_train_14720
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Assess the clinical impact of this variant on gene EBF3 (EBF transcription factor 3), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Broad-based gait
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGTCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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Task1_train_14721
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Here is a mutation in EBF3 (EBF transcription factor 3) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Generalized hypotonia
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGTCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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Task1_train_14722
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A sequence alteration has been identified in EBF3 (EBF transcription factor 3) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Neurogenic bladder
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGTCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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Task1_train_14723
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Here’s a variant in EBF3 (EBF transcription factor 3) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Developmental regression
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGTCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGC
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Task1_train_14724
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Given this variant in gene EBF3 (EBF transcription factor 3) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Hypotonia
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACAGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14725
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A variant found in Chromosome 10 affects EBF3 (EBF transcription factor 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Expressive language delay
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACAGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14726
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Gene EBF3 (EBF transcription factor 3), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Global developmental delay
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACAGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14727
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A variant on Chromosome 10 in gene EBF3 (EBF transcription factor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Dyssynergia
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACAGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14728
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Located on Chromosome 10, this mutation impacts EBF3 (EBF transcription factor 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Intellectual disability
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACAGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14729
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The gene EBF3 (EBF transcription factor 3) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hypotonia, ataxia, and delayed development syndrome
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACGGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14730
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This alteration in EBF3 (EBF transcription factor 3) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hypotonia, ataxia, and delayed development syndrome
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACTGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14731
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A change on Chromosome 10 affects gene EBF3 (EBF transcription factor 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Inborn genetic diseases
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACTGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14732
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The gene EBF3 (EBF transcription factor 3) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Isolated Pierre-Robin syndrome
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACTGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14733
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This sequence variant lies in EBF3 (EBF transcription factor 3) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Hypotonia
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACTGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14734
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This is a variant in EBF3 (EBF transcription factor 3), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Expressive language delay
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACTGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14735
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This sequence change occurs on Chromosome 10, altering EBF3 (EBF transcription factor 3). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Global developmental delay
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACTGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14736
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This variant lies on Chromosome 10 and affects the gene EBF3 (EBF transcription factor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Dyssynergia
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACTGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14737
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This sequence change occurs on Chromosome 10, altering EBF3 (EBF transcription factor 3). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Intellectual disability
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCATATGATGAACACTGAGTATTAAAAGTTATTCAGCATCAATAGTCAATAAAGGATTGAATGTTGCACAAATCCAAAGTGATTTTGAAGGGAAAACACAGCATCCAAAATGTGAGCCAAATCAACATGGCTACTTCATCATTGTGGCATGCTAGAAGTCTCACACTTTATAAACAAGTCCTCTTTTAAAATTTAAAGTATCACACAAAAGATGAAACACTTTCGCAATCCTTCATTTAAAGCCAACATGCACTGCCTTTTCAAGCAACTTAGACAAGACTCCAATAGTTCAAACACTTCTAGCCAATCAAGAAAATAAAATAAATTCAGTTACAAGACAATAATCTAAGGCTATATGATTTCCATGGCCACAACACTAAAGACAGATATAATTATATTGATTTTCATAGTTCGAGTTCTATAAAGTGTTGAACTTGTTCTCAATTGCCTGAGTGACAGCCACAACTGGTCAACCCTATTTGATTACTAATAAGAGAGCTGTCCCTTCTGTCAGATACCGAACATTCTCCACTAAGCAAACAGCTATTCCAGCTAGTTAAACATTAGCATTGCTCTCCACTGGTGGCGCATATTTCTTTAGGCTTAACTCATGGAGTTTTCCGGGTTTAATTTTTCAGACACTGGACAGCAAAGTTCATGATCAAAAGATAACTTTGTAATGAAAGCTGCGGAAATTCAACCCCTCTTCAAAACCGTCTAAACCTCTGCTTCGCAAAACTGGTGTCATATGTACACGTCTAACATTTATTCAATTTGGGTACCAATTTCAAAATCTGCAGTCAATCACACGCTGGGCCTTTTGCTGCTACCCATTGTTGGAAAGAAAGAAATCCTCCTCTCCTGCACGGCACCGAAACCCAGCGAGTTGGGAGAGGGCTGGGCGAGGAGGGTGGTGGTGTTTTTGTTGCTTCAACTAAAGCTATGCCAAATGCACATTAGCACCATTAGGGCTACTGATTGGTATCTTAAAAGGATGCAGCATTGCCCAAGGAATATGAGAAACAGCAAGATGAAGAGCAGCAAATGTAAAGAATGCATACAGCTAATCGAGTTATGAAAATTAATGTTGGAACATGTAACCAGCATGTGTAATTAGTTTCAATTATAACAAGTTTGGTTTGTTAGTTACATATTTGCTACTTGACATAAAACGACAGCTACAATTGGAAAAAAATTAGGACACATTTTGCAACTAATTGAGAGCAGATTAAATTCATTCTAACGCTGGGCAACAATTACAACAGTAACATCACCCAAGTCTCAACTTCAACTATCATCAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACTGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCC
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Task1_train_14738
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A variant on Chromosome 10 in gene EBF3 (EBF transcription factor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Hypotonia, ataxia, and delayed development syndrome
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CAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCCCGGGCCCCTTCGGCATTCCGCGCCGCCGCCAGGCCGCGTCCTCAGGCCATTGTCTACAACGAGTTCCAATCTGCATGTTGGGAGAGGCCGATCAGAACGCCCCGAGGCTAAAGAAGCAGGGAAGGATGGTCGCGGCGCAGGAGCAGTTTGCCAAGGGCCGAGGGCCGCGCCCGCCCTGCCCTGCGCGCTCCCCCGGCTCTAGCAAGTCTGGCGCCCCGCGGCTTCCCGCGGCTTCCCGCGTTCCAAACCCAGGCGCCCGCGGGGAGCAGGCCGCCCTGGACCGGCCGCCGTCCCGAGCTCCCGGGGCCTCCCTGAGTGGTGGGCAGCGACCTGGCCTCTGCACGCTGCGGGCGGCCTGGGAGCCCAGGCGGGAGGCCCAGGAGCAGCAACCGCACGTGGGCCGCGGCGTCGCCAGCGCCCCGCAGGAGTGCCGGGGCCCCAGGGCGCCCGAGCCCGCGCGGCCACGTGCTCCTCGCCGGATGATATTTGGAAAGAAAGTGCTAATGGCCAATCTGGTGTTTATTTTGAAACTGCTAACAGTGATTTTTCTCGGGTAAAAAGGCAGTCTCTGCGCGCACGCTCGGGTGGGTTTTGAGCAGAGGCTCCGCCAGATGGTGCGAAGCCCTAGGTGCGCTCACGGCCGCGCTCAGCCCGGCTCCGCCGCTGGGAACCCGAGCTGGGGATCGGGAGCCGCCCGCCCGGGCTGGGCCTCCACCACTGGCCTCGCGAAAAAACAGAAAAGAAAAAAAAAAAAAGTCTACTGGGGGAGGGGCGGGAGGCTGGGGCCGGGAGCTCCAAGTTCCCTGCATAAAATTCCACGGAAGGGGGAGGGATGTCCTCTTCTCCGGTTCCCGCCCCCACCCCTGAAAATTATCTGGAAATTCCTTCCAACCTCCCCGGGCACTTCTGACACTTTCCTCTACTTCCAGGCGGACAAAGCCCTTTCTGGTGAAAGCCCGGGGCTGCCCTCCTGGGAAGAGGGAAGGTTCCCCGCGAACCCCGCTCACCCAGCCTCCTGCCTGGACCCGGCTCAGAACCACAGAAGTGATGGGTGTCACCGCAGGCCAACGAGTCGCCTGGCGCTGCAGGGCGCGTGGCCGCGGCGGGCACCAGCGCTTCTGAGAGAGTGGCTTGTCCTCCGATGGATCGCCGTATTTATATTTGATTTATTTTTTATTTTGTAGCACAAACAGAAATCCATAAACTGTCGGTTCAGCGCCATTGACTCTTTGATCAGTTACTGGGCTATTTCTTTCCTTTTTTTTTTTTTTTTTTTGCCCCTCCATGCCCGTCAGTGAGAGGAGATTAAATGCCTTTATTTTCAGCCCTGTTTATACTGCAAAGGTACAAGGCTAAATGAACAATAAAAGTGTACTTAAAACGAAGCCTCCTCCTCCTCTGTGCAACAACAGAGAAACTTAGGGCTGCCTACATAAACCTCTTAATTAGACTATAGCGATTTCCGAAAACATTTAGCCATTATATACAAAGGAAATAAAATCACCCTGTCAACCAGCAGCCGGAGTTCCAGAGGCTTCTCTGAATCGAGTGAAATAATTACAGAAGGGCACACCGCCTCTGTCTTTGTCAGAAAGACCTTAGTTTACCTGTCAG
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CAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCTCATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCCCGGGCCCCTTCGGCATTCCGCGCCGCCGCCAGGCCGCGTCCTCAGGCCATTGTCTACAACGAGTTCCAATCTGCATGTTGGGAGAGGCCGATCAGAACGCCCCGAGGCTAAAGAAGCAGGGAAGGATGGTCGCGGCGCAGGAGCAGTTTGCCAAGGGCCGAGGGCCGCGCCCGCCCTGCCCTGCGCGCTCCCCCGGCTCTAGCAAGTCTGGCGCCCCGCGGCTTCCCGCGGCTTCCCGCGTTCCAAACCCAGGCGCCCGCGGGGAGCAGGCCGCCCTGGACCGGCCGCCGTCCCGAGCTCCCGGGGCCTCCCTGAGTGGTGGGCAGCGACCTGGCCTCTGCACGCTGCGGGCGGCCTGGGAGCCCAGGCGGGAGGCCCAGGAGCAGCAACCGCACGTGGGCCGCGGCGTCGCCAGCGCCCCGCAGGAGTGCCGGGGCCCCAGGGCGCCCGAGCCCGCGCGGCCACGTGCTCCTCGCCGGATGATATTTGGAAAGAAAGTGCTAATGGCCAATCTGGTGTTTATTTTGAAACTGCTAACAGTGATTTTTCTCGGGTAAAAAGGCAGTCTCTGCGCGCACGCTCGGGTGGGTTTTGAGCAGAGGCTCCGCCAGATGGTGCGAAGCCCTAGGTGCGCTCACGGCCGCGCTCAGCCCGGCTCCGCCGCTGGGAACCCGAGCTGGGGATCGGGAGCCGCCCGCCCGGGCTGGGCCTCCACCACTGGCCTCGCGAAAAAACAGAAAAGAAAAAAAAAAAAAGTCTACTGGGGGAGGGGCGGGAGGCTGGGGCCGGGAGCTCCAAGTTCCCTGCATAAAATTCCACGGAAGGGGGAGGGATGTCCTCTTCTCCGGTTCCCGCCCCCACCCCTGAAAATTATCTGGAAATTCCTTCCAACCTCCCCGGGCACTTCTGACACTTTCCTCTACTTCCAGGCGGACAAAGCCCTTTCTGGTGAAAGCCCGGGGCTGCCCTCCTGGGAAGAGGGAAGGTTCCCCGCGAACCCCGCTCACCCAGCCTCCTGCCTGGACCCGGCTCAGAACCACAGAAGTGATGGGTGTCACCGCAGGCCAACGAGTCGCCTGGCGCTGCAGGGCGCGTGGCCGCGGCGGGCACCAGCGCTTCTGAGAGAGTGGCTTGTCCTCCGATGGATCGCCGTATTTATATTTGATTTATTTTTTATTTTGTAGCACAAACAGAAATCCATAAACTGTCGGTTCAGCGCCATTGACTCTTTGATCAGTTACTGGGCTATTTCTTTCCTTTTTTTTTTTTTTTTTTTGCCCCTCCATGCCCGTCAGTGAGAGGAGATTAAATGCCTTTATTTTCAGCCCTGTTTATACTGCAAAGGTACAAGGCTAAATGAACAATAAAAGTGTACTTAAAACGAAGCCTCCTCCTCCTCTGTGCAACAACAGAGAAACTTAGGGCTGCCTACATAAACCTCTTAATTAGACTATAGCGATTTCCGAAAACATTTAGCCATTATATACAAAGGAAATAAAATCACCCTGTCAACCAGCAGCCGGAGTTCCAGAGGCTTCTCTGAATCGAGTGAAATAATTACAGAAGGGCACACCGCCTCTGTCTTTGTCAGAAAGACCTTAGTTTACCTGTCAG
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Task1_train_14739
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This variant affects gene EBF3 (EBF transcription factor 3) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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TAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCCCGGGCCCCTTCGGCATTCCGCGCCGCCGCCAGGCCGCGTCCTCAGGCCATTGTCTACAACGAGTTCCAATCTGCATGTTGGGAGAGGCCGATCAGAACGCCCCGAGGCTAAAGAAGCAGGGAAGGATGGTCGCGGCGCAGGAGCAGTTTGCCAAGGGCCGAGGGCCGCGCCCGCCCTGCCCTGCGCGCTCCCCCGGCTCTAGCAAGTCTGGCGCCCCGCGGCTTCCCGCGGCTTCCCGCGTTCCAAACCCAGGCGCCCGCGGGGAGCAGGCCGCCCTGGACCGGCCGCCGTCCCGAGCTCCCGGGGCCTCCCTGAGTGGTGGGCAGCGACCTGGCCTCTGCACGCTGCGGGCGGCCTGGGAGCCCAGGCGGGAGGCCCAGGAGCAGCAACCGCACGTGGGCCGCGGCGTCGCCAGCGCCCCGCAGGAGTGCCGGGGCCCCAGGGCGCCCGAGCCCGCGCGGCCACGTGCTCCTCGCCGGATGATATTTGGAAAGAAAGTGCTAATGGCCAATCTGGTGTTTATTTTGAAACTGCTAACAGTGATTTTTCTCGGGTAAAAAGGCAGTCTCTGCGCGCACGCTCGGGTGGGTTTTGAGCAGAGGCTCCGCCAGATGGTGCGAAGCCCTAGGTGCGCTCACGGCCGCGCTCAGCCCGGCTCCGCCGCTGGGAACCCGAGCTGGGGATCGGGAGCCGCCCGCCCGGGCTGGGCCTCCACCACTGGCCTCGCGAAAAAACAGAAAAGAAAAAAAAAAAAAGTCTACTGGGGGAGGGGCGGGAGGCTGGGGCCGGGAGCTCCAAGTTCCCTGCATAAAATTCCACGGAAGGGGGAGGGATGTCCTCTTCTCCGGTTCCCGCCCCCACCCCTGAAAATTATCTGGAAATTCCTTCCAACCTCCCCGGGCACTTCTGACACTTTCCTCTACTTCCAGGCGGACAAAGCCCTTTCTGGTGAAAGCCCGGGGCTGCCCTCCTGGGAAGAGGGAAGGTTCCCCGCGAACCCCGCTCACCCAGCCTCCTGCCTGGACCCGGCTCAGAACCACAGAAGTGATGGGTGTCACCGCAGGCCAACGAGTCGCCTGGCGCTGCAGGGCGCGTGGCCGCGGCGGGCACCAGCGCTTCTGAGAGAGTGGCTTGTCCTCCGATGGATCGCCGTATTTATATTTGATTTATTTTTTATTTTGTAGCACAAACAGAAATCCATAAACTGTCGGTTCAGCGCCATTGACTCTTTGATCAGTTACTGGGCTATTTCTTTCCTTTTTTTTTTTTTTTTTTTGCCCCTCCATGCCCGTCAGTGAGAGGAGATTAAATGCCTTTATTTTCAGCCCTGTTTATACTGCAAAGGTACAAGGCTAAATGAACAATAAAAGTGTACTTAAAACGAAGCCTCCTCCTCCTCTGTGCAACAACAGAGAAACTTAGGGCTGCCTACATAAACCTCTTAATTAGACTATAGCGATTTCCGAAAACATTTAGCCATTATATACAAAGGAAATAAAATCACCCTGTCAACCAGCAGCCGGAGTTCCAGAGGCTTCTCTGAATCGAGTGAAATAATTACAGAAGGGCACACCGCCTCTGTCTTTGTCAGAAAGACCTTAGTTTACCTGTCAGATCTGTTTTACT
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TAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTAGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCCCGGGCCCCTTCGGCATTCCGCGCCGCCGCCAGGCCGCGTCCTCAGGCCATTGTCTACAACGAGTTCCAATCTGCATGTTGGGAGAGGCCGATCAGAACGCCCCGAGGCTAAAGAAGCAGGGAAGGATGGTCGCGGCGCAGGAGCAGTTTGCCAAGGGCCGAGGGCCGCGCCCGCCCTGCCCTGCGCGCTCCCCCGGCTCTAGCAAGTCTGGCGCCCCGCGGCTTCCCGCGGCTTCCCGCGTTCCAAACCCAGGCGCCCGCGGGGAGCAGGCCGCCCTGGACCGGCCGCCGTCCCGAGCTCCCGGGGCCTCCCTGAGTGGTGGGCAGCGACCTGGCCTCTGCACGCTGCGGGCGGCCTGGGAGCCCAGGCGGGAGGCCCAGGAGCAGCAACCGCACGTGGGCCGCGGCGTCGCCAGCGCCCCGCAGGAGTGCCGGGGCCCCAGGGCGCCCGAGCCCGCGCGGCCACGTGCTCCTCGCCGGATGATATTTGGAAAGAAAGTGCTAATGGCCAATCTGGTGTTTATTTTGAAACTGCTAACAGTGATTTTTCTCGGGTAAAAAGGCAGTCTCTGCGCGCACGCTCGGGTGGGTTTTGAGCAGAGGCTCCGCCAGATGGTGCGAAGCCCTAGGTGCGCTCACGGCCGCGCTCAGCCCGGCTCCGCCGCTGGGAACCCGAGCTGGGGATCGGGAGCCGCCCGCCCGGGCTGGGCCTCCACCACTGGCCTCGCGAAAAAACAGAAAAGAAAAAAAAAAAAAGTCTACTGGGGGAGGGGCGGGAGGCTGGGGCCGGGAGCTCCAAGTTCCCTGCATAAAATTCCACGGAAGGGGGAGGGATGTCCTCTTCTCCGGTTCCCGCCCCCACCCCTGAAAATTATCTGGAAATTCCTTCCAACCTCCCCGGGCACTTCTGACACTTTCCTCTACTTCCAGGCGGACAAAGCCCTTTCTGGTGAAAGCCCGGGGCTGCCCTCCTGGGAAGAGGGAAGGTTCCCCGCGAACCCCGCTCACCCAGCCTCCTGCCTGGACCCGGCTCAGAACCACAGAAGTGATGGGTGTCACCGCAGGCCAACGAGTCGCCTGGCGCTGCAGGGCGCGTGGCCGCGGCGGGCACCAGCGCTTCTGAGAGAGTGGCTTGTCCTCCGATGGATCGCCGTATTTATATTTGATTTATTTTTTATTTTGTAGCACAAACAGAAATCCATAAACTGTCGGTTCAGCGCCATTGACTCTTTGATCAGTTACTGGGCTATTTCTTTCCTTTTTTTTTTTTTTTTTTTGCCCCTCCATGCCCGTCAGTGAGAGGAGATTAAATGCCTTTATTTTCAGCCCTGTTTATACTGCAAAGGTACAAGGCTAAATGAACAATAAAAGTGTACTTAAAACGAAGCCTCCTCCTCCTCTGTGCAACAACAGAGAAACTTAGGGCTGCCTACATAAACCTCTTAATTAGACTATAGCGATTTCCGAAAACATTTAGCCATTATATACAAAGGAAATAAAATCACCCTGTCAACCAGCAGCCGGAGTTCCAGAGGCTTCTCTGAATCGAGTGAAATAATTACAGAAGGGCACACCGCCTCTGTCTTTGTCAGAAAGACCTTAGTTTACCTGTCAGATCTGTTTTACT
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Task1_train_14740
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The gene EBF3 (EBF transcription factor 3) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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ATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACGGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCCCGGGCCCCTTCGGCATTCCGCGCCGCCGCCAGGCCGCGTCCTCAGGCCATTGTCTACAACGAGTTCCAATCTGCATGTTGGGAGAGGCCGATCAGAACGCCCCGAGGCTAAAGAAGCAGGGAAGGATGGTCGCGGCGCAGGAGCAGTTTGCCAAGGGCCGAGGGCCGCGCCCGCCCTGCCCTGCGCGCTCCCCCGGCTCTAGCAAGTCTGGCGCCCCGCGGCTTCCCGCGGCTTCCCGCGTTCCAAACCCAGGCGCCCGCGGGGAGCAGGCCGCCCTGGACCGGCCGCCGTCCCGAGCTCCCGGGGCCTCCCTGAGTGGTGGGCAGCGACCTGGCCTCTGCACGCTGCGGGCGGCCTGGGAGCCCAGGCGGGAGGCCCAGGAGCAGCAACCGCACGTGGGCCGCGGCGTCGCCAGCGCCCCGCAGGAGTGCCGGGGCCCCAGGGCGCCCGAGCCCGCGCGGCCACGTGCTCCTCGCCGGATGATATTTGGAAAGAAAGTGCTAATGGCCAATCTGGTGTTTATTTTGAAACTGCTAACAGTGATTTTTCTCGGGTAAAAAGGCAGTCTCTGCGCGCACGCTCGGGTGGGTTTTGAGCAGAGGCTCCGCCAGATGGTGCGAAGCCCTAGGTGCGCTCACGGCCGCGCTCAGCCCGGCTCCGCCGCTGGGAACCCGAGCTGGGGATCGGGAGCCGCCCGCCCGGGCTGGGCCTCCACCACTGGCCTCGCGAAAAAACAGAAAAGAAAAAAAAAAAAAGTCTACTGGGGGAGGGGCGGGAGGCTGGGGCCGGGAGCTCCAAGTTCCCTGCATAAAATTCCACGGAAGGGGGAGGGATGTCCTCTTCTCCGGTTCCCGCCCCCACCCCTGAAAATTATCTGGAAATTCCTTCCAACCTCCCCGGGCACTTCTGACACTTTCCTCTACTTCCAGGCGGACAAAGCCCTTTCTGGTGAAAGCCCGGGGCTGCCCTCCTGGGAAGAGGGAAGGTTCCCCGCGAACCCCGCTCACCCAGCCTCCTGCCTGGACCCGGCTCAGAACCACAGAAGTGATGGGTGTCACCGCAGGCCAACGAGTCGCCTGGCGCTGCAGGGCGCGTGGCCGCGGCGGGCACCAGCGCTTCTGAGAGAGTGGCTTGTCCTCCGATGGATCGCCGTATTTATATTTGATTTATTTTTTATTTTGTAGCACAAACAGAAATCCATAAACTGTCGGTTCAGCGCCATTGACTCTTTGATCAGTTACTGGGCTATTTCTTTCCTTTTTTTTTTTTTTTTTTTGCCCCTCCATGCCCGTCAGTGAGAGGAGATTAAATGCCTTTATTTTCAGCCCTGTTTATACTGCAAAGGTACAAGGCTAAATGAACAATAAAAGTGTACTTAAAACGAAGCCTCCTCCTCCTCTGTGCAACAACAGAGAAACTTAGGGCTGCCTACATAAACCTCTTAATTAGACTATAGCGATTTCCGAAAACATTTAGCCATTATATACAAAGGAAATAAAATCACCCTGTCAACCAGCAGCCGGAGTTCCAGAGGCTTCTCTGAATCGAGTGAAATAATTACAGAAGGGCACACCGCCTCTGTCTTTGTCAGAAAGACCTTAGTTTACCTGTCAGATCTGTTTTACTCTAAGAGAAAAGCAC
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ATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAAAAATAAAGAAGTCATCCTTACCTGTCAATGATTACAGGGTCTGAGGGCGTTTCGTTTCTATTGCCACAACTTTTCTTGTCACAGCACCGGCTGTGGAGCAATTGTAAACAGTGGTTTTAATATGCATTTCCCCCTTTTATGCCCGACTTGTATTTTTTTTTTTTTCTGACGTCTGACAATGAAGCGGTAGGAGTCAACTACCAAGGCAGTTTGGAGAATTTAAACCCAGTGAGTTCACGTGTTCTGCGGCTAAACTTACGATGTAACTTTCTACCGGAAGGAGCAAAGTTGAACCTATCTGTTAATACCAGGAGGGTAACCAGAGTACTATATAGATTGTGATGCTAAAATATGGAAAACATGTTGTCGGTGTTTGTCTTTGCAATGAACTGAGGAGAAGGGAAGGCAGGAGGCTTGGGAATAACTTTTCACAGCTTCGGCTTTTGTTTACCTCTAATTGTCAAGCTGTTATTTCTGGAAAAGATGCAAGATGCCACCTTCAACCAATATTTCTTTGGGGCATTTATTAATTATAACCACAAAAGCATGCATCCATCTATCACAAACTTCTATTGTTCCTTCTTTAAGCCTACCTTAACTCTGTTATTGAAACTTTAATTAAAGCAGAAATGAAACAAAAATGTTATGCTTCTTGCATTTTAAAAAAGCATACTTGTATAATGGTTACATGTCTAAATTAGCTAAATTAACACCATATGGTAGGCAAAGTATATAAAGCCTTTTAAAGCTGACAGCTAAAGTGATTAAAGAAAGTCTACAGTCTTCCACTTAGAGCTTAAATCACATCTGTGCGCTTTCTATGTTAATTGCAGTACATGCAGAAGTGGATAATAAAGAAATTCCACTTTATTGGTTGTAATTTATATTTATTACCTGATATGAGAAAAAGTCAGCTTTTGTATATTAGTGCTGTAACAATATGTCTGCTCAGAAATGGCATTTAGGCAACCGGCATCATAGCCAGGCGGAGTATGCCCCTCAGAGTATGCGGCCTGCTACTGTAGCCTGGAAGCCTGCAACGCTTTCCTTGCTATTCCTTGCAACTATATTTCACATGCCACACATACAAAGTCAATGATGCATTTTTATTTGCCATGTAGGGGTGAAACTCTTGTGGTAGTTAGAAAAAACAGGTGGGAAATTGCTCTTCTGACAGAGATCTCAAGTAACGGGCACGCTATCTAACAACGACACGAACGCTGCATCGCTGCTCTAGGGAAGAGGTTAACTGACAGAATCACAATCCAATTCTCACATACACGCGCGCTATAGTAAGTACAAAAGAGTTTCCTTTTTATCAATAACAGACAATTGTATATCTCAGGATGCGAGCGCCTGAGAAGGAAGTAGTAAAATGATTCCGAGTGATCCCTGACTCCTCCGGCACCGCGGACGGATGCATCACCCAGACCTGTTTTCATTTTTGACTACACTGCAACGACACGGCCCACATATTAATCCGCTCTGCTGAGCAGCGGGTCGCGTTGATCGTCAGCGCTGGGGGGAAGGAGCGCGGGCTCCTCCGCGGCCCGGCGCGCGGCCTCGGGCCGATTACATTTCAATCGATGCCCTTCCCGGAGCTGGGCGGGGTGGCGGCGCCTGGACGCGGCGTCCTTTGTAGACGCAGCTGGCGCCGAGGCAGCCCGCGCCCCCGCCGCCCGCCGCCCGCCGCTCACCTGCACATGATCTCGTGGGTCAGCAGCACACCGCACATCTCCGGGTTCTTGTCCTGGCCCTCGTAGACGATGGCCTGCGCGAGGGACAAGCAGAGGCTGGGGTTACGCGGCGCCCGCGGCTTTGGCGCCAAATCGCCCCGGGCGCTGCAGGCCTGGCTGGCAGCAGGTGCACCACGCTCGAGGGGAGGCGATGCGCCCCCCTCCCTCGGCCACCCTCCCGATGGGGTCACCCTCGGAGCTGGGCTAGGCCGCGATGGCTTCTCCCTCCCCTGCCTCCCAGCCTCCTCCCCCGGGCGCCCGCCAGGCCTGCGAGGGGCCTTCGGCTGCAGGGAAGGCGCCGACTGGGCTCGGGCCGCGGGGAGGGCAGGGCGAGGGAGGCCGGGGCCGGGGCGCAAGGAGCGAGAGCCCGCTGGCACCGACCCCGGAACCCGGGGCTCCCGGGCCCCTTCGGCATTCCGCGCCGCCGCCAGGCCGCGTCCTCAGGCCATTGTCTACAACGAGTTCCAATCTGCATGTTGGGAGAGGCCGATCAGAACGCCCCGAGGCTAAAGAAGCAGGGAAGGATGGTCGCGGCGCAGGAGCAGTTTGCCAAGGGCCGAGGGCCGCGCCCGCCCTGCCCTGCGCGCTCCCCCGGCTCTAGCAAGTCTGGCGCCCCGCGGCTTCCCGCGGCTTCCCGCGTTCCAAACCCAGGCGCCCGCGGGGAGCAGGCCGCCCTGGACCGGCCGCCGTCCCGAGCTCCCGGGGCCTCCCTGAGTGGTGGGCAGCGACCTGGCCTCTGCACGCTGCGGGCGGCCTGGGAGCCCAGGCGGGAGGCCCAGGAGCAGCAACCGCACGTGGGCCGCGGCGTCGCCAGCGCCCCGCAGGAGTGCCGGGGCCCCAGGGCGCCCGAGCCCGCGCGGCCACGTGCTCCTCGCCGGATGATATTTGGAAAGAAAGTGCTAATGGCCAATCTGGTGTTTATTTTGAAACTGCTAACAGTGATTTTTCTCGGGTAAAAAGGCAGTCTCTGCGCGCACGCTCGGGTGGGTTTTGAGCAGAGGCTCCGCCAGATGGTGCGAAGCCCTAGGTGCGCTCACGGCCGCGCTCAGCCCGGCTCCGCCGCTGGGAACCCGAGCTGGGGATCGGGAGCCGCCCGCCCGGGCTGGGCCTCCACCACTGGCCTCGCGAAAAAACAGAAAAGAAAAAAAAAAAAAGTCTACTGGGGGAGGGGCGGGAGGCTGGGGCCGGGAGCTCCAAGTTCCCTGCATAAAATTCCACGGAAGGGGGAGGGATGTCCTCTTCTCCGGTTCCCGCCCCCACCCCTGAAAATTATCTGGAAATTCCTTCCAACCTCCCCGGGCACTTCTGACACTTTCCTCTACTTCCAGGCGGACAAAGCCCTTTCTGGTGAAAGCCCGGGGCTGCCCTCCTGGGAAGAGGGAAGGTTCCCCGCGAACCCCGCTCACCCAGCCTCCTGCCTGGACCCGGCTCAGAACCACAGAAGTGATGGGTGTCACCGCAGGCCAACGAGTCGCCTGGCGCTGCAGGGCGCGTGGCCGCGGCGGGCACCAGCGCTTCTGAGAGAGTGGCTTGTCCTCCGATGGATCGCCGTATTTATATTTGATTTATTTTTTATTTTGTAGCACAAACAGAAATCCATAAACTGTCGGTTCAGCGCCATTGACTCTTTGATCAGTTACTGGGCTATTTCTTTCCTTTTTTTTTTTTTTTTTTTGCCCCTCCATGCCCGTCAGTGAGAGGAGATTAAATGCCTTTATTTTCAGCCCTGTTTATACTGCAAAGGTACAAGGCTAAATGAACAATAAAAGTGTACTTAAAACGAAGCCTCCTCCTCCTCTGTGCAACAACAGAGAAACTTAGGGCTGCCTACATAAACCTCTTAATTAGACTATAGCGATTTCCGAAAACATTTAGCCATTATATACAAAGGAAATAAAATCACCCTGTCAACCAGCAGCCGGAGTTCCAGAGGCTTCTCTGAATCGAGTGAAATAATTACAGAAGGGCACACCGCCTCTGTCTTTGTCAGAAAGACCTTAGTTTACCTGTCAGATCTGTTTTACTCTAAGAGAAAAGCAC
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Task1_train_14741
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The gene NKX6-2 (NK6 homeobox 2) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
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ACCCATGTCATAACCTTGTTGCAAATATTTTTCTCCTATAGCAGTAAGTACAGCATTAGAAGGTGATTAGAGAGTCTGTTGATGAAACACAAATGTATGTTTTATTGATTTTACTTTAGAACACTACAGAGTTCCTGGACCGGGTGAAGGCATTAGCTGGGTGTTTGTGTGGGATAAATACTACCACTGCAAGTGACTGCTGTCCGCTGCGGAATCTGTTCTTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGAGAGGAGAAACACAGCCTTTTGGACTTTCTACTGTAATAAAGGATTTATCCCTCAACATTTTAAAACGGGATTATATCAACGCTTTGCCTTCCTCAAAACTTTAAGAAGCCCCTCTGCTCTGAGCTGAGAGGGGCTCCCCACAGAAAAGCGTTGCTTCTGCCCTTCGAGTTGCTTCCTTGTAAAGAAGGCTGCTAAGAGCCTAAAACAAAACGCGCCGAGTTTAAGCCCTTTCTATTTCCCTTTAACGCTTCCGCAAATGCCAAGAGAAATCGTACCACCGCAGTGATATCATTATTTACATTTAATTTTTAAAAATTAAAACTCAACAGCCACGCCCATTAAGATGCAGCGATGGGCAGCCCCGGCCACAGAGGCTGCGGGAGGCTGGAGGGGTTTTGTCAGCCGCAGTCACAGCCCCGCGGAGCTGGCGGCATTTCAGGGCAGGAGACGGGTCCCCCGAGCCCCCGGCTGGGCGCTGCGGGCCTTGCCCAGGGGGCCTCCGGCTCCCTGACCCCGCGTGACCCACGGGAGGCCCCGCCGCTCCGCGGGCGGAATTATTTCGGATTTCTCTTTGCGGTCCTAGTTCGGAAGAAACTGCTTTCCACCGCGGGAAGATCTGGCGGGATGGTGACCGAAGGGCCTCCGTGCAGCGGATCAGACCCGGTTCCACCGGCTGAGCCCAGGGCGGGCCTATGGGATCCGCTGATGCGCAGAGGGACTTTGGAAATAATCAGAGCGAAGCCCTCGGCCAAGCGGGAACGGGTGCCCGGTGGCAACGAGTACGTGGCCCCAAAGCGGGAAAACGGAAGAAGAAAAACCTCCCGCGGGGACTCGAGGCGGGTACGCGGCTCACCCGCCCTTTCGGGAACCCCCAAGCGCGTCCGAATCCGCCCCGAGGCGAGGCGGGCCGGGCCGTACCTGCTGCTCCGTCCCCGGCTCCGTCCCGGGCTCCTGGCGGCTGTCGCTGCGGTTCCTTCCCGCGGGCCGGGCCCCTTCCCTGCGCCTTCGCCGCCTCCTCGCGCCTGCCCGGGGCCCGCAGCCTCCGCACCGGGAACCCGGAGGACCCGAGGCGGGCGCAGGGGCGAAGCCGGGGCCGGGGAGGGGCCGCCTCGCTCCGGGTTCGAGACGGAAGAAACACGCGGCGCAGGCTCCGGAGCGACGGCTCCGACGGGGACCCGTTAAATAATTTATTGATGATACAAAGCGACTCGCGCCCACCCGGGGCCGCCCCCGGATTCTGCAAAAATAGATTCGCCCCCACCCCGCGGGTCCTCACAAGGCGTCCCCCGCGCCGCCGCCGCACGGGCTGACCAGCGCCAAGTTCGAGGGTTTGTGCTTCTTGAGCAGCCGCGTGATCTTCTCGTCGTCCGAGTTGGGGTCCAGGGGCCGGTTGTATTCGTCGTCGTCCTCCGCGTCCGAGCCGCCCACCTTCAGCTTCTCGGCGTCCGAGTCCTGCTTCTTCTTGGCCGACGCCATCTCCACCGCGTGCCGCTTGCGCCACTTGGTCCGGCGGTTCTGGAACCAGACCTGGGAGTGGACGGGGCGGTCAGGCGGCCGCGGGGCCCGGGGCTGGCGCTGGGGCCGTTCGCAGGACGCGGGCCCCCGGCTCTGCTCTCCCGAGCCCCGCCGCGCTCACCTTCACCTGGCTCTCGGTCATGCCCAGCGAGTAGGCGAGACGCGCGCGCTCCGGGCCCGCCAGGTACTTGGTCTGCTCGAAGGTTTTCTCCAGCGCGAAGATCTGCTGGCCCGAGAAGGTCGGGCGCGAGTGCTTCTTCTTCCCGTCCTTGTCCAGGACGCCGCCGGCCGGGGCTGCAAGGGAGGGGAAGGGAGGGAGGTCAGCGGCCGGCGGGGTCCCCCTCCGCGCCCACCCGCCCCGCACCCCCCGCGCGGGCCACTCACCCGGGCCAGCCAGACGCGGGTCCCTCCAGGGCGCGCCCTGCACCACGCCGGGCCAGAAGATGGGCGGGCGCCCCGGCAGCTCGGCCAGGGGCTTGGGGTAGCCGCGCGCCACAGCGGCCGCGGGCCCGAAGTAAACGCCGGCGGACGACGCGAGCCCGTTGAGCCGGGGCAGCCCCCCCAGGAGGCCCCCGCCCGCCGCGCCCACGGGCCGGCCCAGGATGTCGCTGATGCCGTGCGGGGTCCCGAGCGGGAGCTGCGCGCCCAGGCCCCCCAGCGCGGGCGCCTTGAAGCCGGCCGGACCCTGCAGCGCGTAGGGGAACAGCGACGTCTTCATCTCGGCCATGTTGTGCAGCGCGGCCAGCGGGGCACTGCTCAGCACGAACGCGCCCGGGCGGTTAGTGTCCATGGGCGCCGCCGCCGCCGGCCCGGGCTCCCATCCGGGCCCCGCCGCCGCCGCCCCTGCCCGCCGGCCCGGGAAGTTTGCGCGCGGCCCGGGCGGGCGTCGGCTGCAGCGCGGGGCGCGGGGCGCGGGGGGCGGGCGGGCGGCTCCGGCGCGGGGCGGGCGGGCGGGCGGCGGCGGCGGCGGCTCCGGGGCCGGTCGGAGCGGCGCCGCGCGGGACGGACGCGCTGATAACGGGGGCTCCCCGGGGCGCGGCGCGCGCGCTGATTGGCTGCGGACCCCGCGGTCCGGCCATTGGCCGGCGCCCCCCCCCCGCCCGCGCGCCCCCGCCGGCCGCGCACTCCATGAAGGGCCCATTAGCGCGGCAGGTGCCTCCCGGGCTGTAAATTCGCCCCGATTTATCTCCCCGGGGACGAAATAAATCCAGCTTGGATGGGAGTGTAGTTAGGCAAAGGTTTTCATGCGAAATCAGGAAAAAATACGAGAACGTATTTTATTAACGGAAAGAATGCAGATTTGAGGACCCGCCCGCGCGCTCGGAGCGCCCCACTCGGGGAAGAGTCCCGGCCCGCGTCCCAGTCGCGACTGCTCCGCCGCCCGTGGCTGGGGTGGGTGTGAGCGGCAGCGGACGCCGGCGGGGAACGCGCTCCGGGCAGGTCGGGGCCACAGGAGGGCGGAGGACGCGGGCCTCGAGTCCACGGAATCCACGGGCCTCACGGCCGGGCGAGGCTCGCACGGAGCTGCCTCTGGTTTCGCCGACACGCGGCCGGCGCGGTGGAGGAGTGAGGCAGGCGGGAGCGGGGCGGGGAGGCGGGTCCCGGGACCACACGCGCGGCTCGGCACTTCCCCGTCATCGGCCTCCAGGTCTCCCGCTGGGGGTCCCCCAGGATGTGACCTGGGCCCACGACTTCGCCCACGGGCCGCCTCTCGCGAATCCCCGGCCGGGAGAACAGAGACCAGGACGGCCTCAGCGCGGAAGCCCTGTCCAGGGCCCGAACGTGGGTGCGGGCTGGGGGCGCAGCGGCAGAAACGCGGCCTTAGACGCGCGCGGGGGGCCGGTGTCCCCCCCGCCCCCACGGCACCGGGAGCCGCTCGCTCATCCATCCCGCAGACCGGGCGGTGAGATGACTCCGAGCCCCGCGCACGGCGGCCGCGAGCAAACGCTCCGACGTCTGTGGTGACGTCTCGTATTGATTTAGGGACACGGGGCGGCTGTGGCTGTGGCCCACGGCTCGTGGGGAGCCCGAGTCTGTGCG
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ACCCATGTCATAACCTTGTTGCAAATATTTTTCTCCTATAGCAGTAAGTACAGCATTAGAAGGTGATTAGAGAGTCTGTTGATGAAACACAAATGTATGTTTTATTGATTTTACTTTAGAACACTACAGAGTTCCTGGACCGGGTGAAGGCATTAGCTGGGTGTTTGTGTGGGATAAATACTACCACTGCAAGTGACTGCTGTCCGCTGCGGAATCTGTTCTTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGAGAGGAGAAACACAGCCTTTTGGACTTTCTACTGTAATAAAGGATTTATCCCTCAACATTTTAAAACGGGATTATATCAACGCTTTGCCTTCCTCAAAACTTTAAGAAGCCCCTCTGCTCTGAGCTGAGAGGGGCTCCCCACAGAAAAGCGTTGCTTCTGCCCTTCGAGTTGCTTCCTTGTAAAGAAGGCTGCTAAGAGCCTAAAACAAAACGCGCCGAGTTTAAGCCCTTTCTATTTCCCTTTAACGCTTCCGCAAATGCCAAGAGAAATCGTACCACCGCAGTGATATCATTATTTACATTTAATTTTTAAAAATTAAAACTCAACAGCCACGCCCATTAAGATGCAGCGATGGGCAGCCCCGGCCACAGAGGCTGCGGGAGGCTGGAGGGGTTTTGTCAGCCGCAGTCACAGCCCCGCGGAGCTGGCGGCATTTCAGGGCAGGAGACGGGTCCCCCGAGCCCCCGGCTGGGCGCTGCGGGCCTTGCCCAGGGGGCCTCCGGCTCCCTGACCCCGCGTGACCCACGGGAGGCCCCGCCGCTCCGCGGGCGGAATTATTTCGGATTTCTCTTTGCGGTCCTAGTTCGGAAGAAACTGCTTTCCACCGCGGGAAGATCTGGCGGGATGGTGACCGAAGGGCCTCCGTGCAGCGGATCAGACCCGGTTCCACCGGCTGAGCCCAGGGCGGGCCTATGGGATCCGCTGATGCGCAGAGGGACTTTGGAAATAATCAGAGCGAAGCCCTCGGCCAAGCGGGAACGGGTGCCCGGTGGCAACGAGTACGTGGCCCCAAAGCGGGAAAACGGAAGAAGAAAAACCTCCCGCGGGGACTCGAGGCGGGTACGCGGCTCACCCGCCCTTTCGGGAACCCCCAAGCGCGTCCGAATCCGCCCCGAGGCGAGGCGGGCCGGGCCGTACCTGCTGCTCCGTCCCCGGCTCCGTCCCGGGCTCCTGGCGGCTGTCGCTGCGGTTCCTTCCCGCGGGCCGGGCCCCTTCCCTGCGCCTTCGCCGCCTCCTCGCGCCTGCCCGGGGCCCGCAGCCTCCGCACCGGGAACCCGGAGGACCCGAGGCGGGCGCAGGGGCGAAGCCGGGGCCGGGGAGGGGCCGCCTCGCTCCGGGTTCGAGACGGAAGAAACACGCGGCGCAGGCTCCGGAGCGACGGCTCCGACGGGGACCCGTTAAATAATTTATTGATGATACAAAGCGACTCGCGCCCACCCGGGGCCGCCCCCGGATTCTGCAAAAATAGATTCGCCCCCACCCCGCGGGTCCTCACAAGGCGTCCCCCGCGCCGCCGCCGCACGGGCTGACCAGCGCCAAGTTCGAGGGTTTGTGCTTCTTGAGCAGCCGCGTGATCTTCTCGTCGTCCGAGTTGGGGTCCAGGGGCCGGTTGTATTCGTCGTCGTCCTCCGCGTCCGAGCCGCCCACCTTCAGCTTCTCGGCGTCCGAGTCCTGCTTCTTCTTGGCCGACGCCATCTCCACCGCGTGCCGCTTGCGCCACTTGGTCTGGCGGTTCTGGAACCAGACCTGGGAGTGGACGGGGCGGTCAGGCGGCCGCGGGGCCCGGGGCTGGCGCTGGGGCCGTTCGCAGGACGCGGGCCCCCGGCTCTGCTCTCCCGAGCCCCGCCGCGCTCACCTTCACCTGGCTCTCGGTCATGCCCAGCGAGTAGGCGAGACGCGCGCGCTCCGGGCCCGCCAGGTACTTGGTCTGCTCGAAGGTTTTCTCCAGCGCGAAGATCTGCTGGCCCGAGAAGGTCGGGCGCGAGTGCTTCTTCTTCCCGTCCTTGTCCAGGACGCCGCCGGCCGGGGCTGCAAGGGAGGGGAAGGGAGGGAGGTCAGCGGCCGGCGGGGTCCCCCTCCGCGCCCACCCGCCCCGCACCCCCCGCGCGGGCCACTCACCCGGGCCAGCCAGACGCGGGTCCCTCCAGGGCGCGCCCTGCACCACGCCGGGCCAGAAGATGGGCGGGCGCCCCGGCAGCTCGGCCAGGGGCTTGGGGTAGCCGCGCGCCACAGCGGCCGCGGGCCCGAAGTAAACGCCGGCGGACGACGCGAGCCCGTTGAGCCGGGGCAGCCCCCCCAGGAGGCCCCCGCCCGCCGCGCCCACGGGCCGGCCCAGGATGTCGCTGATGCCGTGCGGGGTCCCGAGCGGGAGCTGCGCGCCCAGGCCCCCCAGCGCGGGCGCCTTGAAGCCGGCCGGACCCTGCAGCGCGTAGGGGAACAGCGACGTCTTCATCTCGGCCATGTTGTGCAGCGCGGCCAGCGGGGCACTGCTCAGCACGAACGCGCCCGGGCGGTTAGTGTCCATGGGCGCCGCCGCCGCCGGCCCGGGCTCCCATCCGGGCCCCGCCGCCGCCGCCCCTGCCCGCCGGCCCGGGAAGTTTGCGCGCGGCCCGGGCGGGCGTCGGCTGCAGCGCGGGGCGCGGGGCGCGGGGGGCGGGCGGGCGGCTCCGGCGCGGGGCGGGCGGGCGGGCGGCGGCGGCGGCGGCTCCGGGGCCGGTCGGAGCGGCGCCGCGCGGGACGGACGCGCTGATAACGGGGGCTCCCCGGGGCGCGGCGCGCGCGCTGATTGGCTGCGGACCCCGCGGTCCGGCCATTGGCCGGCGCCCCCCCCCCGCCCGCGCGCCCCCGCCGGCCGCGCACTCCATGAAGGGCCCATTAGCGCGGCAGGTGCCTCCCGGGCTGTAAATTCGCCCCGATTTATCTCCCCGGGGACGAAATAAATCCAGCTTGGATGGGAGTGTAGTTAGGCAAAGGTTTTCATGCGAAATCAGGAAAAAATACGAGAACGTATTTTATTAACGGAAAGAATGCAGATTTGAGGACCCGCCCGCGCGCTCGGAGCGCCCCACTCGGGGAAGAGTCCCGGCCCGCGTCCCAGTCGCGACTGCTCCGCCGCCCGTGGCTGGGGTGGGTGTGAGCGGCAGCGGACGCCGGCGGGGAACGCGCTCCGGGCAGGTCGGGGCCACAGGAGGGCGGAGGACGCGGGCCTCGAGTCCACGGAATCCACGGGCCTCACGGCCGGGCGAGGCTCGCACGGAGCTGCCTCTGGTTTCGCCGACACGCGGCCGGCGCGGTGGAGGAGTGAGGCAGGCGGGAGCGGGGCGGGGAGGCGGGTCCCGGGACCACACGCGCGGCTCGGCACTTCCCCGTCATCGGCCTCCAGGTCTCCCGCTGGGGGTCCCCCAGGATGTGACCTGGGCCCACGACTTCGCCCACGGGCCGCCTCTCGCGAATCCCCGGCCGGGAGAACAGAGACCAGGACGGCCTCAGCGCGGAAGCCCTGTCCAGGGCCCGAACGTGGGTGCGGGCTGGGGGCGCAGCGGCAGAAACGCGGCCTTAGACGCGCGCGGGGGGCCGGTGTCCCCCCCGCCCCCACGGCACCGGGAGCCGCTCGCTCATCCATCCCGCAGACCGGGCGGTGAGATGACTCCGAGCCCCGCGCACGGCGGCCGCGAGCAAACGCTCCGACGTCTGTGGTGACGTCTCGTATTGATTTAGGGACACGGGGCGGCTGTGGCTGTGGCCCACGGCTCGTGGGGAGCCCGAGTCTGTGCG
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Task1_train_14742
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Consider this mutation in NKX6-2 (NK6 homeobox 2) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
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CCCATGTCATAACCTTGTTGCAAATATTTTTCTCCTATAGCAGTAAGTACAGCATTAGAAGGTGATTAGAGAGTCTGTTGATGAAACACAAATGTATGTTTTATTGATTTTACTTTAGAACACTACAGAGTTCCTGGACCGGGTGAAGGCATTAGCTGGGTGTTTGTGTGGGATAAATACTACCACTGCAAGTGACTGCTGTCCGCTGCGGAATCTGTTCTTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGAGAGGAGAAACACAGCCTTTTGGACTTTCTACTGTAATAAAGGATTTATCCCTCAACATTTTAAAACGGGATTATATCAACGCTTTGCCTTCCTCAAAACTTTAAGAAGCCCCTCTGCTCTGAGCTGAGAGGGGCTCCCCACAGAAAAGCGTTGCTTCTGCCCTTCGAGTTGCTTCCTTGTAAAGAAGGCTGCTAAGAGCCTAAAACAAAACGCGCCGAGTTTAAGCCCTTTCTATTTCCCTTTAACGCTTCCGCAAATGCCAAGAGAAATCGTACCACCGCAGTGATATCATTATTTACATTTAATTTTTAAAAATTAAAACTCAACAGCCACGCCCATTAAGATGCAGCGATGGGCAGCCCCGGCCACAGAGGCTGCGGGAGGCTGGAGGGGTTTTGTCAGCCGCAGTCACAGCCCCGCGGAGCTGGCGGCATTTCAGGGCAGGAGACGGGTCCCCCGAGCCCCCGGCTGGGCGCTGCGGGCCTTGCCCAGGGGGCCTCCGGCTCCCTGACCCCGCGTGACCCACGGGAGGCCCCGCCGCTCCGCGGGCGGAATTATTTCGGATTTCTCTTTGCGGTCCTAGTTCGGAAGAAACTGCTTTCCACCGCGGGAAGATCTGGCGGGATGGTGACCGAAGGGCCTCCGTGCAGCGGATCAGACCCGGTTCCACCGGCTGAGCCCAGGGCGGGCCTATGGGATCCGCTGATGCGCAGAGGGACTTTGGAAATAATCAGAGCGAAGCCCTCGGCCAAGCGGGAACGGGTGCCCGGTGGCAACGAGTACGTGGCCCCAAAGCGGGAAAACGGAAGAAGAAAAACCTCCCGCGGGGACTCGAGGCGGGTACGCGGCTCACCCGCCCTTTCGGGAACCCCCAAGCGCGTCCGAATCCGCCCCGAGGCGAGGCGGGCCGGGCCGTACCTGCTGCTCCGTCCCCGGCTCCGTCCCGGGCTCCTGGCGGCTGTCGCTGCGGTTCCTTCCCGCGGGCCGGGCCCCTTCCCTGCGCCTTCGCCGCCTCCTCGCGCCTGCCCGGGGCCCGCAGCCTCCGCACCGGGAACCCGGAGGACCCGAGGCGGGCGCAGGGGCGAAGCCGGGGCCGGGGAGGGGCCGCCTCGCTCCGGGTTCGAGACGGAAGAAACACGCGGCGCAGGCTCCGGAGCGACGGCTCCGACGGGGACCCGTTAAATAATTTATTGATGATACAAAGCGACTCGCGCCCACCCGGGGCCGCCCCCGGATTCTGCAAAAATAGATTCGCCCCCACCCCGCGGGTCCTCACAAGGCGTCCCCCGCGCCGCCGCCGCACGGGCTGACCAGCGCCAAGTTCGAGGGTTTGTGCTTCTTGAGCAGCCGCGTGATCTTCTCGTCGTCCGAGTTGGGGTCCAGGGGCCGGTTGTATTCGTCGTCGTCCTCCGCGTCCGAGCCGCCCACCTTCAGCTTCTCGGCGTCCGAGTCCTGCTTCTTCTTGGCCGACGCCATCTCCACCGCGTGCCGCTTGCGCCACTTGGTCCGGCGGTTCTGGAACCAGACCTGGGAGTGGACGGGGCGGTCAGGCGGCCGCGGGGCCCGGGGCTGGCGCTGGGGCCGTTCGCAGGACGCGGGCCCCCGGCTCTGCTCTCCCGAGCCCCGCCGCGCTCACCTTCACCTGGCTCTCGGTCATGCCCAGCGAGTAGGCGAGACGCGCGCGCTCCGGGCCCGCCAGGTACTTGGTCTGCTCGAAGGTTTTCTCCAGCGCGAAGATCTGCTGGCCCGAGAAGGTCGGGCGCGAGTGCTTCTTCTTCCCGTCCTTGTCCAGGACGCCGCCGGCCGGGGCTGCAAGGGAGGGGAAGGGAGGGAGGTCAGCGGCCGGCGGGGTCCCCCTCCGCGCCCACCCGCCCCGCACCCCCCGCGCGGGCCACTCACCCGGGCCAGCCAGACGCGGGTCCCTCCAGGGCGCGCCCTGCACCACGCCGGGCCAGAAGATGGGCGGGCGCCCCGGCAGCTCGGCCAGGGGCTTGGGGTAGCCGCGCGCCACAGCGGCCGCGGGCCCGAAGTAAACGCCGGCGGACGACGCGAGCCCGTTGAGCCGGGGCAGCCCCCCCAGGAGGCCCCCGCCCGCCGCGCCCACGGGCCGGCCCAGGATGTCGCTGATGCCGTGCGGGGTCCCGAGCGGGAGCTGCGCGCCCAGGCCCCCCAGCGCGGGCGCCTTGAAGCCGGCCGGACCCTGCAGCGCGTAGGGGAACAGCGACGTCTTCATCTCGGCCATGTTGTGCAGCGCGGCCAGCGGGGCACTGCTCAGCACGAACGCGCCCGGGCGGTTAGTGTCCATGGGCGCCGCCGCCGCCGGCCCGGGCTCCCATCCGGGCCCCGCCGCCGCCGCCCCTGCCCGCCGGCCCGGGAAGTTTGCGCGCGGCCCGGGCGGGCGTCGGCTGCAGCGCGGGGCGCGGGGCGCGGGGGGCGGGCGGGCGGCTCCGGCGCGGGGCGGGCGGGCGGGCGGCGGCGGCGGCGGCTCCGGGGCCGGTCGGAGCGGCGCCGCGCGGGACGGACGCGCTGATAACGGGGGCTCCCCGGGGCGCGGCGCGCGCGCTGATTGGCTGCGGACCCCGCGGTCCGGCCATTGGCCGGCGCCCCCCCCCCGCCCGCGCGCCCCCGCCGGCCGCGCACTCCATGAAGGGCCCATTAGCGCGGCAGGTGCCTCCCGGGCTGTAAATTCGCCCCGATTTATCTCCCCGGGGACGAAATAAATCCAGCTTGGATGGGAGTGTAGTTAGGCAAAGGTTTTCATGCGAAATCAGGAAAAAATACGAGAACGTATTTTATTAACGGAAAGAATGCAGATTTGAGGACCCGCCCGCGCGCTCGGAGCGCCCCACTCGGGGAAGAGTCCCGGCCCGCGTCCCAGTCGCGACTGCTCCGCCGCCCGTGGCTGGGGTGGGTGTGAGCGGCAGCGGACGCCGGCGGGGAACGCGCTCCGGGCAGGTCGGGGCCACAGGAGGGCGGAGGACGCGGGCCTCGAGTCCACGGAATCCACGGGCCTCACGGCCGGGCGAGGCTCGCACGGAGCTGCCTCTGGTTTCGCCGACACGCGGCCGGCGCGGTGGAGGAGTGAGGCAGGCGGGAGCGGGGCGGGGAGGCGGGTCCCGGGACCACACGCGCGGCTCGGCACTTCCCCGTCATCGGCCTCCAGGTCTCCCGCTGGGGGTCCCCCAGGATGTGACCTGGGCCCACGACTTCGCCCACGGGCCGCCTCTCGCGAATCCCCGGCCGGGAGAACAGAGACCAGGACGGCCTCAGCGCGGAAGCCCTGTCCAGGGCCCGAACGTGGGTGCGGGCTGGGGGCGCAGCGGCAGAAACGCGGCCTTAGACGCGCGCGGGGGGCCGGTGTCCCCCCCGCCCCCACGGCACCGGGAGCCGCTCGCTCATCCATCCCGCAGACCGGGCGGTGAGATGACTCCGAGCCCCGCGCACGGCGGCCGCGAGCAAACGCTCCGACGTCTGTGGTGACGTCTCGTATTGATTTAGGGACACGGGGCGGCTGTGGCTGTGGCCCACGGCTCGTGGGGAGCCCGAGTCTGTGCGC
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CCCATGTCATAACCTTGTTGCAAATATTTTTCTCCTATAGCAGTAAGTACAGCATTAGAAGGTGATTAGAGAGTCTGTTGATGAAACACAAATGTATGTTTTATTGATTTTACTTTAGAACACTACAGAGTTCCTGGACCGGGTGAAGGCATTAGCTGGGTGTTTGTGTGGGATAAATACTACCACTGCAAGTGACTGCTGTCCGCTGCGGAATCTGTTCTTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGAGAGGAGAAACACAGCCTTTTGGACTTTCTACTGTAATAAAGGATTTATCCCTCAACATTTTAAAACGGGATTATATCAACGCTTTGCCTTCCTCAAAACTTTAAGAAGCCCCTCTGCTCTGAGCTGAGAGGGGCTCCCCACAGAAAAGCGTTGCTTCTGCCCTTCGAGTTGCTTCCTTGTAAAGAAGGCTGCTAAGAGCCTAAAACAAAACGCGCCGAGTTTAAGCCCTTTCTATTTCCCTTTAACGCTTCCGCAAATGCCAAGAGAAATCGTACCACCGCAGTGATATCATTATTTACATTTAATTTTTAAAAATTAAAACTCAACAGCCACGCCCATTAAGATGCAGCGATGGGCAGCCCCGGCCACAGAGGCTGCGGGAGGCTGGAGGGGTTTTGTCAGCCGCAGTCACAGCCCCGCGGAGCTGGCGGCATTTCAGGGCAGGAGACGGGTCCCCCGAGCCCCCGGCTGGGCGCTGCGGGCCTTGCCCAGGGGGCCTCCGGCTCCCTGACCCCGCGTGACCCACGGGAGGCCCCGCCGCTCCGCGGGCGGAATTATTTCGGATTTCTCTTTGCGGTCCTAGTTCGGAAGAAACTGCTTTCCACCGCGGGAAGATCTGGCGGGATGGTGACCGAAGGGCCTCCGTGCAGCGGATCAGACCCGGTTCCACCGGCTGAGCCCAGGGCGGGCCTATGGGATCCGCTGATGCGCAGAGGGACTTTGGAAATAATCAGAGCGAAGCCCTCGGCCAAGCGGGAACGGGTGCCCGGTGGCAACGAGTACGTGGCCCCAAAGCGGGAAAACGGAAGAAGAAAAACCTCCCGCGGGGACTCGAGGCGGGTACGCGGCTCACCCGCCCTTTCGGGAACCCCCAAGCGCGTCCGAATCCGCCCCGAGGCGAGGCGGGCCGGGCCGTACCTGCTGCTCCGTCCCCGGCTCCGTCCCGGGCTCCTGGCGGCTGTCGCTGCGGTTCCTTCCCGCGGGCCGGGCCCCTTCCCTGCGCCTTCGCCGCCTCCTCGCGCCTGCCCGGGGCCCGCAGCCTCCGCACCGGGAACCCGGAGGACCCGAGGCGGGCGCAGGGGCGAAGCCGGGGCCGGGGAGGGGCCGCCTCGCTCCGGGTTCGAGACGGAAGAAACACGCGGCGCAGGCTCCGGAGCGACGGCTCCGACGGGGACCCGTTAAATAATTTATTGATGATACAAAGCGACTCGCGCCCACCCGGGGCCGCCCCCGGATTCTGCAAAAATAGATTCGCCCCCACCCCGCGGGTCCTCACAAGGCGTCCCCCGCGCCGCCGCCGCACGGGCTGACCAGCGCCAAGTTCGAGGGTTTGTGCTTCTTGAGCAGCCGCGTGATCTTCTCGTCGTCCGAGTTGGGGTCCAGGGGCCGGTTGTATTCGTCGTCGTCCTCCGCGTCCGAGCCGCCCACCTTCAGCTTCTCGGCGTCCGAGTCCTGCTTCTTCTTGGCCGACGCCATCTCCACCGCGTGCCGCTTGCGCCACTTGGTCCAGCGGTTCTGGAACCAGACCTGGGAGTGGACGGGGCGGTCAGGCGGCCGCGGGGCCCGGGGCTGGCGCTGGGGCCGTTCGCAGGACGCGGGCCCCCGGCTCTGCTCTCCCGAGCCCCGCCGCGCTCACCTTCACCTGGCTCTCGGTCATGCCCAGCGAGTAGGCGAGACGCGCGCGCTCCGGGCCCGCCAGGTACTTGGTCTGCTCGAAGGTTTTCTCCAGCGCGAAGATCTGCTGGCCCGAGAAGGTCGGGCGCGAGTGCTTCTTCTTCCCGTCCTTGTCCAGGACGCCGCCGGCCGGGGCTGCAAGGGAGGGGAAGGGAGGGAGGTCAGCGGCCGGCGGGGTCCCCCTCCGCGCCCACCCGCCCCGCACCCCCCGCGCGGGCCACTCACCCGGGCCAGCCAGACGCGGGTCCCTCCAGGGCGCGCCCTGCACCACGCCGGGCCAGAAGATGGGCGGGCGCCCCGGCAGCTCGGCCAGGGGCTTGGGGTAGCCGCGCGCCACAGCGGCCGCGGGCCCGAAGTAAACGCCGGCGGACGACGCGAGCCCGTTGAGCCGGGGCAGCCCCCCCAGGAGGCCCCCGCCCGCCGCGCCCACGGGCCGGCCCAGGATGTCGCTGATGCCGTGCGGGGTCCCGAGCGGGAGCTGCGCGCCCAGGCCCCCCAGCGCGGGCGCCTTGAAGCCGGCCGGACCCTGCAGCGCGTAGGGGAACAGCGACGTCTTCATCTCGGCCATGTTGTGCAGCGCGGCCAGCGGGGCACTGCTCAGCACGAACGCGCCCGGGCGGTTAGTGTCCATGGGCGCCGCCGCCGCCGGCCCGGGCTCCCATCCGGGCCCCGCCGCCGCCGCCCCTGCCCGCCGGCCCGGGAAGTTTGCGCGCGGCCCGGGCGGGCGTCGGCTGCAGCGCGGGGCGCGGGGCGCGGGGGGCGGGCGGGCGGCTCCGGCGCGGGGCGGGCGGGCGGGCGGCGGCGGCGGCGGCTCCGGGGCCGGTCGGAGCGGCGCCGCGCGGGACGGACGCGCTGATAACGGGGGCTCCCCGGGGCGCGGCGCGCGCGCTGATTGGCTGCGGACCCCGCGGTCCGGCCATTGGCCGGCGCCCCCCCCCCGCCCGCGCGCCCCCGCCGGCCGCGCACTCCATGAAGGGCCCATTAGCGCGGCAGGTGCCTCCCGGGCTGTAAATTCGCCCCGATTTATCTCCCCGGGGACGAAATAAATCCAGCTTGGATGGGAGTGTAGTTAGGCAAAGGTTTTCATGCGAAATCAGGAAAAAATACGAGAACGTATTTTATTAACGGAAAGAATGCAGATTTGAGGACCCGCCCGCGCGCTCGGAGCGCCCCACTCGGGGAAGAGTCCCGGCCCGCGTCCCAGTCGCGACTGCTCCGCCGCCCGTGGCTGGGGTGGGTGTGAGCGGCAGCGGACGCCGGCGGGGAACGCGCTCCGGGCAGGTCGGGGCCACAGGAGGGCGGAGGACGCGGGCCTCGAGTCCACGGAATCCACGGGCCTCACGGCCGGGCGAGGCTCGCACGGAGCTGCCTCTGGTTTCGCCGACACGCGGCCGGCGCGGTGGAGGAGTGAGGCAGGCGGGAGCGGGGCGGGGAGGCGGGTCCCGGGACCACACGCGCGGCTCGGCACTTCCCCGTCATCGGCCTCCAGGTCTCCCGCTGGGGGTCCCCCAGGATGTGACCTGGGCCCACGACTTCGCCCACGGGCCGCCTCTCGCGAATCCCCGGCCGGGAGAACAGAGACCAGGACGGCCTCAGCGCGGAAGCCCTGTCCAGGGCCCGAACGTGGGTGCGGGCTGGGGGCGCAGCGGCAGAAACGCGGCCTTAGACGCGCGCGGGGGGCCGGTGTCCCCCCCGCCCCCACGGCACCGGGAGCCGCTCGCTCATCCATCCCGCAGACCGGGCGGTGAGATGACTCCGAGCCCCGCGCACGGCGGCCGCGAGCAAACGCTCCGACGTCTGTGGTGACGTCTCGTATTGATTTAGGGACACGGGGCGGCTGTGGCTGTGGCCCACGGCTCGTGGGGAGCCCGAGTCTGTGCGC
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Task1_train_14743
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A genetic alteration is present in NKX6-2 (NK6 homeobox 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
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TTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGAGAGGAGAAACACAGCCTTTTGGACTTTCTACTGTAATAAAGGATTTATCCCTCAACATTTTAAAACGGGATTATATCAACGCTTTGCCTTCCTCAAAACTTTAAGAAGCCCCTCTGCTCTGAGCTGAGAGGGGCTCCCCACAGAAAAGCGTTGCTTCTGCCCTTCGAGTTGCTTCCTTGTAAAGAAGGCTGCTAAGAGCCTAAAACAAAACGCGCCGAGTTTAAGCCCTTTCTATTTCCCTTTAACGCTTCCGCAAATGCCAAGAGAAATCGTACCACCGCAGTGATATCATTATTTACATTTAATTTTTAAAAATTAAAACTCAACAGCCACGCCCATTAAGATGCAGCGATGGGCAGCCCCGGCCACAGAGGCTGCGGGAGGCTGGAGGGGTTTTGTCAGCCGCAGTCACAGCCCCGCGGAGCTGGCGGCATTTCAGGGCAGGAGACGGGTCCCCCGAGCCCCCGGCTGGGCGCTGCGGGCCTTGCCCAGGGGGCCTCCGGCTCCCTGACCCCGCGTGACCCACGGGAGGCCCCGCCGCTCCGCGGGCGGAATTATTTCGGATTTCTCTTTGCGGTCCTAGTTCGGAAGAAACTGCTTTCCACCGCGGGAAGATCTGGCGGGATGGTGACCGAAGGGCCTCCGTGCAGCGGATCAGACCCGGTTCCACCGGCTGAGCCCAGGGCGGGCCTATGGGATCCGCTGATGCGCAGAGGGACTTTGGAAATAATCAGAGCGAAGCCCTCGGCCAAGCGGGAACGGGTGCCCGGTGGCAACGAGTACGTGGCCCCAAAGCGGGAAAACGGAAGAAGAAAAACCTCCCGCGGGGACTCGAGGCGGGTACGCGGCTCACCCGCCCTTTCGGGAACCCCCAAGCGCGTCCGAATCCGCCCCGAGGCGAGGCGGGCCGGGCCGTACCTGCTGCTCCGTCCCCGGCTCCGTCCCGGGCTCCTGGCGGCTGTCGCTGCGGTTCCTTCCCGCGGGCCGGGCCCCTTCCCTGCGCCTTCGCCGCCTCCTCGCGCCTGCCCGGGGCCCGCAGCCTCCGCACCGGGAACCCGGAGGACCCGAGGCGGGCGCAGGGGCGAAGCCGGGGCCGGGGAGGGGCCGCCTCGCTCCGGGTTCGAGACGGAAGAAACACGCGGCGCAGGCTCCGGAGCGACGGCTCCGACGGGGACCCGTTAAATAATTTATTGATGATACAAAGCGACTCGCGCCCACCCGGGGCCGCCCCCGGATTCTGCAAAAATAGATTCGCCCCCACCCCGCGGGTCCTCACAAGGCGTCCCCCGCGCCGCCGCCGCACGGGCTGACCAGCGCCAAGTTCGAGGGTTTGTGCTTCTTGAGCAGCCGCGTGATCTTCTCGTCGTCCGAGTTGGGGTCCAGGGGCCGGTTGTATTCGTCGTCGTCCTCCGCGTCCGAGCCGCCCACCTTCAGCTTCTCGGCGTCCGAGTCCTGCTTCTTCTTGGCCGACGCCATCTCCACCGCGTGCCGCTTGCGCCACTTGGTCCGGCGGTTCTGGAACCAGACCTGGGAGTGGACGGGGCGGTCAGGCGGCCGCGGGGCCCGGGGCTGGCGCTGGGGCCGTTCGCAGGACGCGGGCCCCCGGCTCTGCTCTCCCGAGCCCCGCCGCGCTCACCTTCACCTGGCTCTCGGTCATGCCCAGCGAGTAGGCGAGACGCGCGCGCTCCGGGCCCGCCAGGTACTTGGTCTGCTCGAAGGTTTTCTCCAGCGCGAAGATCTGCTGGCCCGAGAAGGTCGGGCGCGAGTGCTTCTTCTTCCCGTCCTTGTCCAGGACGCCGCCGGCCGGGGCTGCAAGGGAGGGGAAGGGAGGGAGGTCAGCGGCCGGCGGGGTCCCCCTCCGCGCCCACCCGCCCCGCACCCCCCGCGCGGGCCACTCACCCGGGCCAGCCAGACGCGGGTCCCTCCAGGGCGCGCCCTGCACCACGCCGGGCCAGAAGATGGGCGGGCGCCCCGGCAGCTCGGCCAGGGGCTTGGGGTAGCCGCGCGCCACAGCGGCCGCGGGCCCGAAGTAAACGCCGGCGGACGACGCGAGCCCGTTGAGCCGGGGCAGCCCCCCCAGGAGGCCCCCGCCCGCCGCGCCCACGGGCCGGCCCAGGATGTCGCTGATGCCGTGCGGGGTCCCGAGCGGGAGCTGCGCGCCCAGGCCCCCCAGCGCGGGCGCCTTGAAGCCGGCCGGACCCTGCAGCGCGTAGGGGAACAGCGACGTCTTCATCTCGGCCATGTTGTGCAGCGCGGCCAGCGGGGCACTGCTCAGCACGAACGCGCCCGGGCGGTTAGTGTCCATGGGCGCCGCCGCCGCCGGCCCGGGCTCCCATCCGGGCCCCGCCGCCGCCGCCCCTGCCCGCCGGCCCGGGAAGTTTGCGCGCGGCCCGGGCGGGCGTCGGCTGCAGCGCGGGGCGCGGGGCGCGGGGGGCGGGCGGGCGGCTCCGGCGCGGGGCGGGCGGGCGGGCGGCGGCGGCGGCGGCTCCGGGGCCGGTCGGAGCGGCGCCGCGCGGGACGGACGCGCTGATAACGGGGGCTCCCCGGGGCGCGGCGCGCGCGCTGATTGGCTGCGGACCCCGCGGTCCGGCCATTGGCCGGCGCCCCCCCCCCGCCCGCGCGCCCCCGCCGGCCGCGCACTCCATGAAGGGCCCATTAGCGCGGCAGGTGCCTCCCGGGCTGTAAATTCGCCCCGATTTATCTCCCCGGGGACGAAATAAATCCAGCTTGGATGGGAGTGTAGTTAGGCAAAGGTTTTCATGCGAAATCAGGAAAAAATACGAGAACGTATTTTATTAACGGAAAGAATGCAGATTTGAGGACCCGCCCGCGCGCTCGGAGCGCCCCACTCGGGGAAGAGTCCCGGCCCGCGTCCCAGTCGCGACTGCTCCGCCGCCCGTGGCTGGGGTGGGTGTGAGCGGCAGCGGACGCCGGCGGGGAACGCGCTCCGGGCAGGTCGGGGCCACAGGAGGGCGGAGGACGCGGGCCTCGAGTCCACGGAATCCACGGGCCTCACGGCCGGGCGAGGCTCGCACGGAGCTGCCTCTGGTTTCGCCGACACGCGGCCGGCGCGGTGGAGGAGTGAGGCAGGCGGGAGCGGGGCGGGGAGGCGGGTCCCGGGACCACACGCGCGGCTCGGCACTTCCCCGTCATCGGCCTCCAGGTCTCCCGCTGGGGGTCCCCCAGGATGTGACCTGGGCCCACGACTTCGCCCACGGGCCGCCTCTCGCGAATCCCCGGCCGGGAGAACAGAGACCAGGACGGCCTCAGCGCGGAAGCCCTGTCCAGGGCCCGAACGTGGGTGCGGGCTGGGGGCGCAGCGGCAGAAACGCGGCCTTAGACGCGCGCGGGGGGCCGGTGTCCCCCCCGCCCCCACGGCACCGGGAGCCGCTCGCTCATCCATCCCGCAGACCGGGCGGTGAGATGACTCCGAGCCCCGCGCACGGCGGCCGCGAGCAAACGCTCCGACGTCTGTGGTGACGTCTCGTATTGATTTAGGGACACGGGGCGGCTGTGGCTGTGGCCCACGGCTCGTGGGGAGCCCGAGTCTGTGCGCAGGGAACGCCGCTGCGTGGCCTCTCTCGGGCCTGTGCCGCGGAGGAAGGCGGCGCCCGGGGTTCGGGGCCGGGGTCTCACGTCCGCCCCCTCGCCCCCCTCCAGCGTCCGTTTTCGTTTTGTGCAGGTCGAGGCGGGGACTTGGCGCCGTCGGCCGCTCCTGGATGGCGGCTTGGAAAAGCCACCTGCGGCCAAACTCCGGGGCAGTGGTGCGGCCGCCG
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TTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGAGAGGAGAAACACAGCCTTTTGGACTTTCTACTGTAATAAAGGATTTATCCCTCAACATTTTAAAACGGGATTATATCAACGCTTTGCCTTCCTCAAAACTTTAAGAAGCCCCTCTGCTCTGAGCTGAGAGGGGCTCCCCACAGAAAAGCGTTGCTTCTGCCCTTCGAGTTGCTTCCTTGTAAAGAAGGCTGCTAAGAGCCTAAAACAAAACGCGCCGAGTTTAAGCCCTTTCTATTTCCCTTTAACGCTTCCGCAAATGCCAAGAGAAATCGTACCACCGCAGTGATATCATTATTTACATTTAATTTTTAAAAATTAAAACTCAACAGCCACGCCCATTAAGATGCAGCGATGGGCAGCCCCGGCCACAGAGGCTGCGGGAGGCTGGAGGGGTTTTGTCAGCCGCAGTCACAGCCCCGCGGAGCTGGCGGCATTTCAGGGCAGGAGACGGGTCCCCCGAGCCCCCGGCTGGGCGCTGCGGGCCTTGCCCAGGGGGCCTCCGGCTCCCTGACCCCGCGTGACCCACGGGAGGCCCCGCCGCTCCGCGGGCGGAATTATTTCGGATTTCTCTTTGCGGTCCTAGTTCGGAAGAAACTGCTTTCCACCGCGGGAAGATCTGGCGGGATGGTGACCGAAGGGCCTCCGTGCAGCGGATCAGACCCGGTTCCACCGGCTGAGCCCAGGGCGGGCCTATGGGATCCGCTGATGCGCAGAGGGACTTTGGAAATAATCAGAGCGAAGCCCTCGGCCAAGCGGGAACGGGTGCCCGGTGGCAACGAGTACGTGGCCCCAAAGCGGGAAAACGGAAGAAGAAAAACCTCCCGCGGGGACTCGAGGCGGGTACGCGGCTCACCCGCCCTTTCGGGAACCCCCAAGCGCGTCCGAATCCGCCCCGAGGCGAGGCGGGCCGGGCCGTACCTGCTGCTCCGTCCCCGGCTCCGTCCCGGGCTCCTGGCGGCTGTCGCTGCGGTTCCTTCCCGCGGGCCGGGCCCCTTCCCTGCGCCTTCGCCGCCTCCTCGCGCCTGCCCGGGGCCCGCAGCCTCCGCACCGGGAACCCGGAGGACCCGAGGCGGGCGCAGGGGCGAAGCCGGGGCCGGGGAGGGGCCGCCTCGCTCCGGGTTCGAGACGGAAGAAACACGCGGCGCAGGCTCCGGAGCGACGGCTCCGACGGGGACCCGTTAAATAATTTATTGATGATACAAAGCGACTCGCGCCCACCCGGGGCCGCCCCCGGATTCTGCAAAAATAGATTCGCCCCCACCCCGCGGGTCCTCACAAGGCGTCCCCCGCGCCGCCGCCGCACGGGCTGACCAGCGCCAAGTTCGAGGGTTTGTGCTTCTTGAGCAGCCGCGTGATCTTCTCGTCGTCCGAGTTGGGGTCCAGGGGCCGGTTGTATTCGTCGTCGTCCTCCGCGTCCGAGCCGCCCACCTTCAGCTTCTCGGCGTCCGAGTCCTGCTTCTTCTTGGCCGACGCCATCTCCACCGCGTGCCGCTTGCGCCACTTGGTCCGGCGGTTCTGGAACCAGACCTGGGAGTGGACGGGGCGGTCAGGCGGCCGCGGGGCCCGGGGCTGGCGCTGGGGCCGTTCGCAGGACGCGGGCCCCCGGCTCTGCTCTCCCGAGCCCCGCCGCGCTCACCTTCACCTGGCTCTCGGTCATGCCCAGCGAGTAGGCGAGACGCGCGCGCTCCGGGCCCGCCAGGTACTTGGTCTGCTCGAAGGTTTTCTCCACCGCGAAGATCTGCTGGCCCGAGAAGGTCGGGCGCGAGTGCTTCTTCTTCCCGTCCTTGTCCAGGACGCCGCCGGCCGGGGCTGCAAGGGAGGGGAAGGGAGGGAGGTCAGCGGCCGGCGGGGTCCCCCTCCGCGCCCACCCGCCCCGCACCCCCCGCGCGGGCCACTCACCCGGGCCAGCCAGACGCGGGTCCCTCCAGGGCGCGCCCTGCACCACGCCGGGCCAGAAGATGGGCGGGCGCCCCGGCAGCTCGGCCAGGGGCTTGGGGTAGCCGCGCGCCACAGCGGCCGCGGGCCCGAAGTAAACGCCGGCGGACGACGCGAGCCCGTTGAGCCGGGGCAGCCCCCCCAGGAGGCCCCCGCCCGCCGCGCCCACGGGCCGGCCCAGGATGTCGCTGATGCCGTGCGGGGTCCCGAGCGGGAGCTGCGCGCCCAGGCCCCCCAGCGCGGGCGCCTTGAAGCCGGCCGGACCCTGCAGCGCGTAGGGGAACAGCGACGTCTTCATCTCGGCCATGTTGTGCAGCGCGGCCAGCGGGGCACTGCTCAGCACGAACGCGCCCGGGCGGTTAGTGTCCATGGGCGCCGCCGCCGCCGGCCCGGGCTCCCATCCGGGCCCCGCCGCCGCCGCCCCTGCCCGCCGGCCCGGGAAGTTTGCGCGCGGCCCGGGCGGGCGTCGGCTGCAGCGCGGGGCGCGGGGCGCGGGGGGCGGGCGGGCGGCTCCGGCGCGGGGCGGGCGGGCGGGCGGCGGCGGCGGCGGCTCCGGGGCCGGTCGGAGCGGCGCCGCGCGGGACGGACGCGCTGATAACGGGGGCTCCCCGGGGCGCGGCGCGCGCGCTGATTGGCTGCGGACCCCGCGGTCCGGCCATTGGCCGGCGCCCCCCCCCCGCCCGCGCGCCCCCGCCGGCCGCGCACTCCATGAAGGGCCCATTAGCGCGGCAGGTGCCTCCCGGGCTGTAAATTCGCCCCGATTTATCTCCCCGGGGACGAAATAAATCCAGCTTGGATGGGAGTGTAGTTAGGCAAAGGTTTTCATGCGAAATCAGGAAAAAATACGAGAACGTATTTTATTAACGGAAAGAATGCAGATTTGAGGACCCGCCCGCGCGCTCGGAGCGCCCCACTCGGGGAAGAGTCCCGGCCCGCGTCCCAGTCGCGACTGCTCCGCCGCCCGTGGCTGGGGTGGGTGTGAGCGGCAGCGGACGCCGGCGGGGAACGCGCTCCGGGCAGGTCGGGGCCACAGGAGGGCGGAGGACGCGGGCCTCGAGTCCACGGAATCCACGGGCCTCACGGCCGGGCGAGGCTCGCACGGAGCTGCCTCTGGTTTCGCCGACACGCGGCCGGCGCGGTGGAGGAGTGAGGCAGGCGGGAGCGGGGCGGGGAGGCGGGTCCCGGGACCACACGCGCGGCTCGGCACTTCCCCGTCATCGGCCTCCAGGTCTCCCGCTGGGGGTCCCCCAGGATGTGACCTGGGCCCACGACTTCGCCCACGGGCCGCCTCTCGCGAATCCCCGGCCGGGAGAACAGAGACCAGGACGGCCTCAGCGCGGAAGCCCTGTCCAGGGCCCGAACGTGGGTGCGGGCTGGGGGCGCAGCGGCAGAAACGCGGCCTTAGACGCGCGCGGGGGGCCGGTGTCCCCCCCGCCCCCACGGCACCGGGAGCCGCTCGCTCATCCATCCCGCAGACCGGGCGGTGAGATGACTCCGAGCCCCGCGCACGGCGGCCGCGAGCAAACGCTCCGACGTCTGTGGTGACGTCTCGTATTGATTTAGGGACACGGGGCGGCTGTGGCTGTGGCCCACGGCTCGTGGGGAGCCCGAGTCTGTGCGCAGGGAACGCCGCTGCGTGGCCTCTCTCGGGCCTGTGCCGCGGAGGAAGGCGGCGCCCGGGGTTCGGGGCCGGGGTCTCACGTCCGCCCCCTCGCCCCCCTCCAGCGTCCGTTTTCGTTTTGTGCAGGTCGAGGCGGGGACTTGGCGCCGTCGGCCGCTCCTGGATGGCGGCTTGGAAAAGCCACCTGCGGCCAAACTCCGGGGCAGTGGTGCGGCCGCCG
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Task1_train_14744
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A mutation found in ECHS1 (enoyl-CoA hydratase, short chain 1) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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GGAGTGCAGTGGCGTGATCTCGGCTCACTGTAATCTCCGCCTCTGGGTTCAAGCGATTCTCCTGCCTCAACTTCCAGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTGGATTTTTAGTAGAGACGGGTTTCGTCATGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAGGCAATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCGCGCCCGGCCTCATTTTTTAAAAAAGTCTTTTTTTTGAGACGGGGTCTTGCTTTGCTGCCCAGTTGGACTCGAACGACCCGCCTCAGCCTCCCAGGAAGCTGGGGCTACGGATGCTCGACACCCACCCGGCTGAAACTGCATTTTCAATAAAGGAGCTGCTTGAGGGTGCAATTCACAGACCTCACATAACAGGAAAAACAAGAAAAGCCCCTGTAAGGTTTCTGTACTTTTGAACTTGTACATGCTCTACTTTTTTCCTAACATCAAGACCCACTGATGGAACCAATCTGATCCCGTTAAAGGTGAGGCTGGCAGTTCTGACCAGAAAGAAACGATACTTAATGATAAAATTTAAAAGGAAATTCCCAGCAACTTGTGTGACTGGAATTTGCTTGATTCTCCGGTTGAACACTGTTTACTCACAGTGGCAAAGGTTGAATAAAAGAGTTTCTTCTCCAACTTACTTCCTTCTGTTAATGTCATTTCAAAAGCTGAAAAACAAAGTCCCAGAGTTATGAACGGAGATATTACATGCAGAACTTTTCCTGCACGGTGACAGGAAGCCCTCCTCACTGACCCATGCACAACTGTGCTTTCGACGTGGCCCAGCCCTGCACAGGCTTCCATGGTGCCGCCCTTCTCAAAGGCACTGCCCCAGCGGAGACCTGGCAGAACCAACAGCTCTGCTATGGCCCCCAAACGTCACACTCCGGTAGCCCACGGCCCCAAGAAGGGAGAGGAACTGGATGAAAGGTGAGATGGCAAACTGTGCCCTTGAGGAGAGGCTGTGAGGCGGCAACGGGGCTGCAAACAGAGAAAAATAACCAAGGATGAAAACCAGGAAGGACAGCACGAGAGCCAGAGCTGGGCGCGGCCGGCACCAAGAACGCCTTTGGCTCTGCTCATTCCAGGCCCGTTCTTTGCACGAGGCCAAGCAGAGCAGATCCAGGTGCGCAGATGGAGGCAGGCGCTGTGGCTCCAGGGCTGGTGCCAGCATCCTCTCCCAGGGGAGCACGACCTTGCCAAACACCTCGGGCGACAGCAGCCTCCGTTCTTTCAAAATGCTCTCCTCACTGTATCCTGCCTCAAGCCAACGGCAAGCCCGGGGGACGGCCACACCCTCGAGATAAATGCACTCAGAGAGGTTAGGGGACCTGCCTGGGGCCACCCACACCTGTCCGGACTCAACCAGCTAATAACCATCTCATTCCACATGCTGAGAATAAATTGTGACATTAAAACTTGAGCATTTCTGAGGAGGGGGAGGTTCAGATCCACTTCCCTGGCAGAGGGAGAACTAAAAGGGATCCAGGCCAAGAACGAACAGCGTGGTGCTGGGCTGCAAGCCTGCGTAGCCACCTGCCAGGCGCACACGCAGCCGCCAACCCCAGGTCTCGGGAGGTGAACCGAGCCTCCCCATGGCAGAGACCATTTTACATTTGGGACCTCTGCTCCCTTCTCAGCCTTTCCCTGCCACTGCCAGCTCTGTACTGCCCTCACCTCCCAGGCCTGGCTCAGTTCTTGGGCCCTGGTACAAAGGGGAGCTGGGAACATCTCAGCGGAGTTCCTGAGTGCGTGACCAGAAACCACGACTCTACAGACAGCAGAACTGAGACACTGAGAAGCATTTCTGCCCAGGAGGGCTTAAGGCATATTCATTTGGAGCCAGAAAGCCTGCTGCTGAGGAATGCTCCTGACAGCCACGGAGACCTCTCCAGTGTCTTCCTGGCAGATCCCCTACCTGCATTCACTGATTCTTTGGCCATCGCTACTACAATTTTAGAATTGCTGGCAATTTTTTCTGCACACTGGATGGCTTCTTCCACCAGTGTCTCAACAGGACAAATCTTGCTGACAAGACCTGAAACACAAGAAAGTCAGTGAGTGATGTGCAGAAACAGCACTTGTCTATCCCTTCTCGAGTGAGTGGCCGCTGGGGAGCAGCGTGGCTGGAGCACCCCAGCCTCTGGACGCTAAGCAAGGGCGGCTTCCACACGGGAAGTGCCGCACGTGCCCCTTCCTGAGTGCTGAGTGATCTCGGCACTGCGGTCACTGTGCTCTCAGACATGTGGGCCAGGCTGGCCACAGCTCCGACGGCAGAGGCGGCCAGACACGGGGACTGTGATCACCAACAGGGCAGTGGGAGGACCGGCCACTGAGGCCTGGAGATGCCCATTGCTTACACTGCATTTTGGGGACGCAATTGCTGGGCTGTTATTCTGTACCAGATACTTACGTGTGGTTCACTTCCGTACATACAGTACTTCAAAATGTAGAAACAAAAGGCAGTCAGTCTTCTCCCAGGTCCTCAGGACCCAAAAGCTCATGCAACCACCGTGGGGGCACTTGGATGCTGCCCGGGGTTTCTGTGGGGCTCCCACGAGGGGGACACCTGGATGCCGCCCTGGGTTTCTGTGGGGCTCCCCCATGGGGGACACCTGGATGCAGCTCTGGGTTTCTGTGGGGCTCCCACGAGGGAGACAACTGGATGCAGCTCAGGGTTTCTGTGGGGCACCCATGAGGGGGACACCTGGATGCTGCCCCGGGTTTCTGTGGGGCTCCCCCGAGGGGGACACCTGGATGCCGCCCTGGGTTTCTGTGGGGCTCCCACCCCGGGTTTCCAGGTGGCTCTTGCGGGCAGCCCCAACCCATACCTGCTTGCTTGGCGTCCTGGGCTGAGATCCGGTCACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGCACAAACTGTTTCGGTATAATAAAGAAAATAGTTAGAATAACAATAGTTATAATACAAATTAGATATAGAGATGATCATGGACATTATCAATCATTAGTATAAACATTATTAATCATTAGCTCTTAATATTACTCTTTGTTGTATTACTAATATAACCAAGAAATAACTGGCGGGTATAGGGTCAGGTGCTGAAGGCACATTGTGAGAAGAGACCTAGAAGGCAAGAGGTGAGCCTTCTGTCACACCTGCATAAGGGCCGCTTGAGGGCTCCTTGGTCAAGCAGTAACGCCAGTGTCTGGGAAGGCAACCATTACTTAGCAGACCATGAAAGGGAGTCTCCTTTCCTTGGAGGAGTCAGGGAACACTGCTCCACCAGCTTCTTGTGAGAGGCTGGATATTCTCCAGGCCTGCCCGCAGTCATCCGGAGGCCTAACCCCCTCCCTGTGGTGCTTCAACGATCACACTCCTTGTCCACTTTCATGCTCCTCCCGTACTCCTGGTTCCTCTTTGAAGTTCGTAGCAGATAGTGGAAGAAGAAAGAGTGAAAGTCTTAAAGTCTTTGATCTTTCTTGTAAGTGCATAGAAGAAAATGCTGACATATGCTGCCTTCCCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTC
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GGAGTGCAGTGGCGTGATCTCGGCTCACTGTAATCTCCGCCTCTGGGTTCAAGCGATTCTCCTGCCTCAACTTCCAGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTGGATTTTTAGTAGAGACGGGTTTCGTCATGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAGGCAATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCGCGCCCGGCCTCATTTTTTAAAAAAGTCTTTTTTTTGAGACGGGGTCTTGCTTTGCTGCCCAGTTGGACTCGAACGACCCGCCTCAGCCTCCCAGGAAGCTGGGGCTACGGATGCTCGACACCCACCCGGCTGAAACTGCATTTTCAATAAAGGAGCTGCTTGAGGGTGCAATTCACAGACCTCACATAACAGGAAAAACAAGAAAAGCCCCTGTAAGGTTTCTGTACTTTTGAACTTGTACATGCTCTACTTTTTTCCTAACATCAAGACCCACTGATGGAACCAATCTGATCCCGTTAAAGGTGAGGCTGGCAGTTCTGACCAGAAAGAAACGATACTTAATGATAAAATTTAAAAGGAAATTCCCAGCAACTTGTGTGACTGGAATTTGCTTGATTCTCCGGTTGAACACTGTTTACTCACAGTGGCAAAGGTTGAATAAAAGAGTTTCTTCTCCAACTTACTTCCTTCTGTTAATGTCATTTCAAAAGCTGAAAAACAAAGTCCCAGAGTTATGAACGGAGATATTACATGCAGAACTTTTCCTGCACGGTGACAGGAAGCCCTCCTCACTGACCCATGCACAACTGTGCTTTCGACGTGGCCCAGCCCTGCACAGGCTTCCATGGTGCCGCCCTTCTCAAAGGCACTGCCCCAGCGGAGACCTGGCAGAACCAACAGCTCTGCTATGGCCCCCAAACGTCACACTCCGGTAGCCCACGGCCCCAAGAAGGGAGAGGAACTGGATGAAAGGTGAGATGGCAAACTGTGCCCTTGAGGAGAGGCTGTGAGGCGGCAACGGGGCTGCAAACAGAGAAAAATAACCAAGGATGAAAACCAGGAAGGACAGCACGAGAGCCAGAGCTGGGCGCGGCCGGCACCAAGAACGCCTTTGGCTCTGCTCATTCCAGGCCCGTTCTTTGCACGAGGCCAAGCAGAGCAGATCCAGGTGCGCAGATGGAGGCAGGCGCTGTGGCTCCAGGGCTGGTGCCAGCATCCTCTCCCAGGGGAGCACGACCTTGCCAAACACCTCGGGCGACAGCAGCCTCCGTTCTTTCAAAATGCTCTCCTCACTGTATCCTGCCTCAAGCCAACGGCAAGCCCGGGGGACGGCCACACCCTCGAGATAAATGCACTCAGAGAGGTTAGGGGACCTGCCTGGGGCCACCCACACCTGTCCGGACTCAACCAGCTAATAACCATCTCATTCCACATGCTGAGAATAAATTGTGACATTAAAACTTGAGCATTTCTGAGGAGGGGGAGGTTCAGATCCACTTCCCTGGCAGAGGGAGAACTAAAAGGGATCCAGGCCAAGAACGAACAGCGTGGTGCTGGGCTGCAAGCCTGCGTAGCCACCTGCCAGGCGCACACGCAGCCGCCAACCCCAGGTCTCGGGAGGTGAACCGAGCCTCCCCATGGCAGAGACCATTTTACATTTGGGACCTCTGCTCCCTTCTCAGCCTTTCCCTGCCACTGCCAGCTCTGTACTGCCCTCACCTCCCAGGCCTGGCTCAGTTCTTGGGCCCTGGTACAAAGGGGAGCTGGGAACATCTCAGCGGAGTTCCTGAGTGCGTGACCAGAAACCACGACTCTACAGACAGCAGAACTGAGACACTGAGAAGCATTTCTGCCCAGGAGGGCTTAAGGCATATTCATTTGGAGCCAGAAAGCCTGCTGCTGAGGAATGCTCCTGACAGCCACGGAGACCTCTCCAGTGTCTTCCTGGCAGATCCCCTACCTGCATTCACTGATTCTTTGGCCATCGCTACTACAATTTTAGAATTGCTGGCAATTTTTTCTGCACGCTGGATGGCTTCTTCCACCAGTGTCTCAACAGGACAAATCTTGCTGACAAGACCTGAAACACAAGAAAGTCAGTGAGTGATGTGCAGAAACAGCACTTGTCTATCCCTTCTCGAGTGAGTGGCCGCTGGGGAGCAGCGTGGCTGGAGCACCCCAGCCTCTGGACGCTAAGCAAGGGCGGCTTCCACACGGGAAGTGCCGCACGTGCCCCTTCCTGAGTGCTGAGTGATCTCGGCACTGCGGTCACTGTGCTCTCAGACATGTGGGCCAGGCTGGCCACAGCTCCGACGGCAGAGGCGGCCAGACACGGGGACTGTGATCACCAACAGGGCAGTGGGAGGACCGGCCACTGAGGCCTGGAGATGCCCATTGCTTACACTGCATTTTGGGGACGCAATTGCTGGGCTGTTATTCTGTACCAGATACTTACGTGTGGTTCACTTCCGTACATACAGTACTTCAAAATGTAGAAACAAAAGGCAGTCAGTCTTCTCCCAGGTCCTCAGGACCCAAAAGCTCATGCAACCACCGTGGGGGCACTTGGATGCTGCCCGGGGTTTCTGTGGGGCTCCCACGAGGGGGACACCTGGATGCCGCCCTGGGTTTCTGTGGGGCTCCCCCATGGGGGACACCTGGATGCAGCTCTGGGTTTCTGTGGGGCTCCCACGAGGGAGACAACTGGATGCAGCTCAGGGTTTCTGTGGGGCACCCATGAGGGGGACACCTGGATGCTGCCCCGGGTTTCTGTGGGGCTCCCCCGAGGGGGACACCTGGATGCCGCCCTGGGTTTCTGTGGGGCTCCCACCCCGGGTTTCCAGGTGGCTCTTGCGGGCAGCCCCAACCCATACCTGCTTGCTTGGCGTCCTGGGCTGAGATCCGGTCACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGCACAAACTGTTTCGGTATAATAAAGAAAATAGTTAGAATAACAATAGTTATAATACAAATTAGATATAGAGATGATCATGGACATTATCAATCATTAGTATAAACATTATTAATCATTAGCTCTTAATATTACTCTTTGTTGTATTACTAATATAACCAAGAAATAACTGGCGGGTATAGGGTCAGGTGCTGAAGGCACATTGTGAGAAGAGACCTAGAAGGCAAGAGGTGAGCCTTCTGTCACACCTGCATAAGGGCCGCTTGAGGGCTCCTTGGTCAAGCAGTAACGCCAGTGTCTGGGAAGGCAACCATTACTTAGCAGACCATGAAAGGGAGTCTCCTTTCCTTGGAGGAGTCAGGGAACACTGCTCCACCAGCTTCTTGTGAGAGGCTGGATATTCTCCAGGCCTGCCCGCAGTCATCCGGAGGCCTAACCCCCTCCCTGTGGTGCTTCAACGATCACACTCCTTGTCCACTTTCATGCTCCTCCCGTACTCCTGGTTCCTCTTTGAAGTTCGTAGCAGATAGTGGAAGAAGAAAGAGTGAAAGTCTTAAAGTCTTTGATCTTTCTTGTAAGTGCATAGAAGAAAATGCTGACATATGCTGCCTTCCCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTC
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Task1_train_14745
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This variant affects the gene ECHS1 (enoyl-CoA hydratase, short chain 1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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GACCTGGCAGAACCAACAGCTCTGCTATGGCCCCCAAACGTCACACTCCGGTAGCCCACGGCCCCAAGAAGGGAGAGGAACTGGATGAAAGGTGAGATGGCAAACTGTGCCCTTGAGGAGAGGCTGTGAGGCGGCAACGGGGCTGCAAACAGAGAAAAATAACCAAGGATGAAAACCAGGAAGGACAGCACGAGAGCCAGAGCTGGGCGCGGCCGGCACCAAGAACGCCTTTGGCTCTGCTCATTCCAGGCCCGTTCTTTGCACGAGGCCAAGCAGAGCAGATCCAGGTGCGCAGATGGAGGCAGGCGCTGTGGCTCCAGGGCTGGTGCCAGCATCCTCTCCCAGGGGAGCACGACCTTGCCAAACACCTCGGGCGACAGCAGCCTCCGTTCTTTCAAAATGCTCTCCTCACTGTATCCTGCCTCAAGCCAACGGCAAGCCCGGGGGACGGCCACACCCTCGAGATAAATGCACTCAGAGAGGTTAGGGGACCTGCCTGGGGCCACCCACACCTGTCCGGACTCAACCAGCTAATAACCATCTCATTCCACATGCTGAGAATAAATTGTGACATTAAAACTTGAGCATTTCTGAGGAGGGGGAGGTTCAGATCCACTTCCCTGGCAGAGGGAGAACTAAAAGGGATCCAGGCCAAGAACGAACAGCGTGGTGCTGGGCTGCAAGCCTGCGTAGCCACCTGCCAGGCGCACACGCAGCCGCCAACCCCAGGTCTCGGGAGGTGAACCGAGCCTCCCCATGGCAGAGACCATTTTACATTTGGGACCTCTGCTCCCTTCTCAGCCTTTCCCTGCCACTGCCAGCTCTGTACTGCCCTCACCTCCCAGGCCTGGCTCAGTTCTTGGGCCCTGGTACAAAGGGGAGCTGGGAACATCTCAGCGGAGTTCCTGAGTGCGTGACCAGAAACCACGACTCTACAGACAGCAGAACTGAGACACTGAGAAGCATTTCTGCCCAGGAGGGCTTAAGGCATATTCATTTGGAGCCAGAAAGCCTGCTGCTGAGGAATGCTCCTGACAGCCACGGAGACCTCTCCAGTGTCTTCCTGGCAGATCCCCTACCTGCATTCACTGATTCTTTGGCCATCGCTACTACAATTTTAGAATTGCTGGCAATTTTTTCTGCACACTGGATGGCTTCTTCCACCAGTGTCTCAACAGGACAAATCTTGCTGACAAGACCTGAAACACAAGAAAGTCAGTGAGTGATGTGCAGAAACAGCACTTGTCTATCCCTTCTCGAGTGAGTGGCCGCTGGGGAGCAGCGTGGCTGGAGCACCCCAGCCTCTGGACGCTAAGCAAGGGCGGCTTCCACACGGGAAGTGCCGCACGTGCCCCTTCCTGAGTGCTGAGTGATCTCGGCACTGCGGTCACTGTGCTCTCAGACATGTGGGCCAGGCTGGCCACAGCTCCGACGGCAGAGGCGGCCAGACACGGGGACTGTGATCACCAACAGGGCAGTGGGAGGACCGGCCACTGAGGCCTGGAGATGCCCATTGCTTACACTGCATTTTGGGGACGCAATTGCTGGGCTGTTATTCTGTACCAGATACTTACGTGTGGTTCACTTCCGTACATACAGTACTTCAAAATGTAGAAACAAAAGGCAGTCAGTCTTCTCCCAGGTCCTCAGGACCCAAAAGCTCATGCAACCACCGTGGGGGCACTTGGATGCTGCCCGGGGTTTCTGTGGGGCTCCCACGAGGGGGACACCTGGATGCCGCCCTGGGTTTCTGTGGGGCTCCCCCATGGGGGACACCTGGATGCAGCTCTGGGTTTCTGTGGGGCTCCCACGAGGGAGACAACTGGATGCAGCTCAGGGTTTCTGTGGGGCACCCATGAGGGGGACACCTGGATGCTGCCCCGGGTTTCTGTGGGGCTCCCCCGAGGGGGACACCTGGATGCCGCCCTGGGTTTCTGTGGGGCTCCCACCCCGGGTTTCCAGGTGGCTCTTGCGGGCAGCCCCAACCCATACCTGCTTGCTTGGCGTCCTGGGCTGAGATCCGGTCACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGCACAAACTGTTTCGGTATAATAAAGAAAATAGTTAGAATAACAATAGTTATAATACAAATTAGATATAGAGATGATCATGGACATTATCAATCATTAGTATAAACATTATTAATCATTAGCTCTTAATATTACTCTTTGTTGTATTACTAATATAACCAAGAAATAACTGGCGGGTATAGGGTCAGGTGCTGAAGGCACATTGTGAGAAGAGACCTAGAAGGCAAGAGGTGAGCCTTCTGTCACACCTGCATAAGGGCCGCTTGAGGGCTCCTTGGTCAAGCAGTAACGCCAGTGTCTGGGAAGGCAACCATTACTTAGCAGACCATGAAAGGGAGTCTCCTTTCCTTGGAGGAGTCAGGGAACACTGCTCCACCAGCTTCTTGTGAGAGGCTGGATATTCTCCAGGCCTGCCCGCAGTCATCCGGAGGCCTAACCCCCTCCCTGTGGTGCTTCAACGATCACACTCCTTGTCCACTTTCATGCTCCTCCCGTACTCCTGGTTCCTCTTTGAAGTTCGTAGCAGATAGTGGAAGAAGAAAGAGTGAAAGTCTTAAAGTCTTTGATCTTTCTTGTAAGTGCATAGAAGAAAATGCTGACATATGCTGCCTTCCCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTGGTCAACATATTAGAAGCTTATAGGCCTCCCTGACCCCAGGCACTGGTCCCTTATAGTAGCAGCTGTTCTAGGGATCAGACCCGAAACAAATGCACCGAGCTCACAGCTCCAGGCCTCAGAATCGGCCTCGTCCAACTCAGAGGGCAGCGAAGGGCACCCTGAGTGCAGCTGCTCCCCTCAGGGTCTCAGCTCCCTCCTGGCTGCTCGGCCTGGGCCCACCCTTCCTACCAGGAGAACCCTGGGGTTAGAGGGTGTTGCTTTTTGCCAAGAGCCCAGGCCCTTCTCACGGGCCTGGGTGGGGGGTCTGACTCCCCACCCTGAACCCAGGCCATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACA
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GACCTGGCAGAACCAACAGCTCTGCTATGGCCCCCAAACGTCACACTCCGGTAGCCCACGGCCCCAAGAAGGGAGAGGAACTGGATGAAAGGTGAGATGGCAAACTGTGCCCTTGAGGAGAGGCTGTGAGGCGGCAACGGGGCTGCAAACAGAGAAAAATAACCAAGGATGAAAACCAGGAAGGACAGCACGAGAGCCAGAGCTGGGCGCGGCCGGCACCAAGAACGCCTTTGGCTCTGCTCATTCCAGGCCCGTTCTTTGCACGAGGCCAAGCAGAGCAGATCCAGGTGCGCAGATGGAGGCAGGCGCTGTGGCTCCAGGGCTGGTGCCAGCATCCTCTCCCAGGGGAGCACGACCTTGCCAAACACCTCGGGCGACAGCAGCCTCCGTTCTTTCAAAATGCTCTCCTCACTGTATCCTGCCTCAAGCCAACGGCAAGCCCGGGGGACGGCCACACCCTCGAGATAAATGCACTCAGAGAGGTTAGGGGACCTGCCTGGGGCCACCCACACCTGTCCGGACTCAACCAGCTAATAACCATCTCATTCCACATGCTGAGAATAAATTGTGACATTAAAACTTGAGCATTTCTGAGGAGGGGGAGGTTCAGATCCACTTCCCTGGCAGAGGGAGAACTAAAAGGGATCCAGGCCAAGAACGAACAGCGTGGTGCTGGGCTGCAAGCCTGCGTAGCCACCTGCCAGGCGCACACGCAGCCGCCAACCCCAGGTCTCGGGAGGTGAACCGAGCCTCCCCATGGCAGAGACCATTTTACATTTGGGACCTCTGCTCCCTTCTCAGCCTTTCCCTGCCACTGCCAGCTCTGTACTGCCCTCACCTCCCAGGCCTGGCTCAGTTCTTGGGCCCTGGTACAAAGGGGAGCTGGGAACATCTCAGCGGAGTTCCTGAGTGCGTGACCAGAAACCACGACTCTACAGACAGCAGAACTGAGACACTGAGAAGCATTTCTGCCCAGGAGGGCTTAAGGCATATTCATTTGGAGCCAGAAAGCCTGCTGCTGAGGAATGCTCCTGACAGCCACGGAGACCTCTCCAGTGTCTTCCTGGCAGATCCCCTACCTGCATTCACTGATTCTTTGGCCATCGCTACTACAATTTTAGAATTGCTGGCAATTTTTTCTGCACACTGGATGGCTTCTTCCACCAGTGTCTCAACAGGACAAATCTTGCTGACAAGACCTGAAACACAAGAAAGTCAGTGAGTGATGTGCAGAAACAGCACTTGTCTATCCCTTCTCGAGTGAGTGGCCGCTGGGGAGCAGCGTGGCTGGAGCACCCCAGCCTCTGGACGCTAAGCAAGGGCGGCTTCCACACGGGAAGTGCCGCACGTGCCCCTTCCTGAGTGCTGAGTGATCTCGGCACTGCGGTCACTGTGCTCTCAGACATGTGGGCCAGGCTGGCCACAGCTCCGACGGCAGAGGCGGCCAGACACGGGGACTGTGATCACCAACAGGGCAGTGGGAGGACCGGCCACTGAGGCCTGGAGATGCCCATTGCTTACACTGCATTTTGGGGACGCAATTGCTGGGCTGTTATTCTGTACCAGATACTTACGTGTGGTTCACTTCCGTACATACAGTACTTCAAAATGTAGAAACAAAAGGCAGTCAGTCTTCTCCCAGGTCCTCAGGACCCAAAAGCTCATGCAACCACCGTGGGGGCACTTGGATGCTGCCCGGGGTTTCTGTGGGGCTCCCACGAGGGGGACACCTGGATGCCGCCCTGGGTTTCTGTGGGGCTCCCCCATGGGGGACACCTGGATGCAGCTCTGGGTTTCTGTGGGGCTCCCACGAGGGAGACAACTGGATGCAGCTCAGGGTTTCTGTGGGGCACCCATGAGGGGGACACCTGGATGCTGCCCCGGGTTTCTGTGGGGCTCCCCCGAGGGGGACACCTGGATGCCGCCCTGGGTTTCTGTGGGGCTCCCACCCCGGGTTTCCAGGTGGCTCTTGCGGGCAGCCCCAACCCATACCTGCTTGCTTGGCGTCCTGGGCTGAGATCCGGTCACCAGTGAGGACCATCTCCATCACCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGCACAAACTGTTTCGGTATAATAAAGAAAATAGTTAGAATAACAATAGTTATAATACAAATTAGATATAGAGATGATCATGGACATTATCAATCATTAGTATAAACATTATTAATCATTAGCTCTTAATATTACTCTTTGTTGTATTACTAATATAACCAAGAAATAACTGGCGGGTATAGGGTCAGGTGCTGAAGGCACATTGTGAGAAGAGACCTAGAAGGCAAGAGGTGAGCCTTCTGTCACACCTGCATAAGGGCCGCTTGAGGGCTCCTTGGTCAAGCAGTAACGCCAGTGTCTGGGAAGGCAACCATTACTTAGCAGACCATGAAAGGGAGTCTCCTTTCCTTGGAGGAGTCAGGGAACACTGCTCCACCAGCTTCTTGTGAGAGGCTGGATATTCTCCAGGCCTGCCCGCAGTCATCCGGAGGCCTAACCCCCTCCCTGTGGTGCTTCAACGATCACACTCCTTGTCCACTTTCATGCTCCTCCCGTACTCCTGGTTCCTCTTTGAAGTTCGTAGCAGATAGTGGAAGAAGAAAGAGTGAAAGTCTTAAAGTCTTTGATCTTTCTTGTAAGTGCATAGAAGAAAATGCTGACATATGCTGCCTTCCCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTGGTCAACATATTAGAAGCTTATAGGCCTCCCTGACCCCAGGCACTGGTCCCTTATAGTAGCAGCTGTTCTAGGGATCAGACCCGAAACAAATGCACCGAGCTCACAGCTCCAGGCCTCAGAATCGGCCTCGTCCAACTCAGAGGGCAGCGAAGGGCACCCTGAGTGCAGCTGCTCCCCTCAGGGTCTCAGCTCCCTCCTGGCTGCTCGGCCTGGGCCCACCCTTCCTACCAGGAGAACCCTGGGGTTAGAGGGTGTTGCTTTTTGCCAAGAGCCCAGGCCCTTCTCACGGGCCTGGGTGGGGGGTCTGACTCCCCACCCTGAACCCAGGCCATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACA
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Task1_train_14746
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This variant lies on Chromosome 10 and affects the gene ECHS1 (enoyl-CoA hydratase, short chain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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TCCGGTCACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGCACAAACTGTTTCGGTATAATAAAGAAAATAGTTAGAATAACAATAGTTATAATACAAATTAGATATAGAGATGATCATGGACATTATCAATCATTAGTATAAACATTATTAATCATTAGCTCTTAATATTACTCTTTGTTGTATTACTAATATAACCAAGAAATAACTGGCGGGTATAGGGTCAGGTGCTGAAGGCACATTGTGAGAAGAGACCTAGAAGGCAAGAGGTGAGCCTTCTGTCACACCTGCATAAGGGCCGCTTGAGGGCTCCTTGGTCAAGCAGTAACGCCAGTGTCTGGGAAGGCAACCATTACTTAGCAGACCATGAAAGGGAGTCTCCTTTCCTTGGAGGAGTCAGGGAACACTGCTCCACCAGCTTCTTGTGAGAGGCTGGATATTCTCCAGGCCTGCCCGCAGTCATCCGGAGGCCTAACCCCCTCCCTGTGGTGCTTCAACGATCACACTCCTTGTCCACTTTCATGCTCCTCCCGTACTCCTGGTTCCTCTTTGAAGTTCGTAGCAGATAGTGGAAGAAGAAAGAGTGAAAGTCTTAAAGTCTTTGATCTTTCTTGTAAGTGCATAGAAGAAAATGCTGACATATGCTGCCTTCCCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTGGTCAACATATTAGAAGCTTATAGGCCTCCCTGACCCCAGGCACTGGTCCCTTATAGTAGCAGCTGTTCTAGGGATCAGACCCGAAACAAATGCACCGAGCTCACAGCTCCAGGCCTCAGAATCGGCCTCGTCCAACTCAGAGGGCAGCGAAGGGCACCCTGAGTGCAGCTGCTCCCCTCAGGGTCTCAGCTCCCTCCTGGCTGCTCGGCCTGGGCCCACCCTTCCTACCAGGAGAACCCTGGGGTTAGAGGGTGTTGCTTTTTGCCAAGAGCCCAGGCCCTTCTCACGGGCCTGGGTGGGGGGTCTGACTCCCCACCCTGAACCCAGGCCATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGC
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TCCGGTCACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGCACAAACTGTTTCGGTATAATAAAGAAAATAGTTAGAATAACAATAGTTATAATACAAATTAGATATAGAGATGATCATGGACATTATCAATCATTAGTATAAACATTATTAATCATTAGCTCTTAATATTACTCTTTGTTGTATTACTAATATAACCAAGAAATAACTGGCGGGTATAGGGTCAGGTGCTGAAGGCACATTGTGAGAAGAGACCTAGAAGGCAAGAGGTGAGCCTTCTGTCACACCTGCATAAGGGCCGCTTGAGGGCTCCTTGGTCAAGCAGTAACGCCAGTGTCTGGGAAGGCAACCATTACTTAGCAGACCATGAAAGGGAGTCTCCTTTCCTTGGAGGAGTCAGGGAACACTGCTCCACCAGCTTCTTGTGAGAGGCTGGATATTCTCCAGGCCTGCCCGCAGTCATCCGGAGGCCTAACCCCCTCCCTGTGGTGCTTCAACGATCACACTCCTTGTCCACTTTCATGCTCCTCCCGTACTCCTGGTTCCTCTTTGAAGTTCGTAGCAGATAGTGGAAGAAGAAAGAGTGAAAGTCTTAAAGTCTTTGATCTTTCTTGTAAGTGCATAGAAGAAAATGCTGACATATGCTGCCTTCCCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTGGTCAACATATTAGAAGCTTATAGGCCTCCCTGACCCCAGGCACTGGTCCCTTATAGTAGCAGCTGTTCTAGGGATCAGACCCGAAACAAATGCACCGAGCTCACAGCTCCAGGCCTCAGAATCGGCCTCGTCCAACTCAGAGGGCAGCGAAGGGCACCCTGAGTGCAGCTGCTCCCCTCAGGGTCTCAGCTCCCTCCTGGCTGCTCGGCCTGGGCCCACCCTTCCTACCAGGAGAACCCTGGGGTTAGAGGGTGTTGCTTTTTGCCAAGAGCCCAGGCCCTTCTCACGGGCCTGGGTGGGGGGTCTGACTCCCCACCCTGAACCCAGGCCATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGTCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGC
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Task1_train_14747
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A mutation on Chromosome 10 affecting ECHS1 (enoyl-CoA hydratase, short chain 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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CACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGCACAAACTGTTTCGGTATAATAAAGAAAATAGTTAGAATAACAATAGTTATAATACAAATTAGATATAGAGATGATCATGGACATTATCAATCATTAGTATAAACATTATTAATCATTAGCTCTTAATATTACTCTTTGTTGTATTACTAATATAACCAAGAAATAACTGGCGGGTATAGGGTCAGGTGCTGAAGGCACATTGTGAGAAGAGACCTAGAAGGCAAGAGGTGAGCCTTCTGTCACACCTGCATAAGGGCCGCTTGAGGGCTCCTTGGTCAAGCAGTAACGCCAGTGTCTGGGAAGGCAACCATTACTTAGCAGACCATGAAAGGGAGTCTCCTTTCCTTGGAGGAGTCAGGGAACACTGCTCCACCAGCTTCTTGTGAGAGGCTGGATATTCTCCAGGCCTGCCCGCAGTCATCCGGAGGCCTAACCCCCTCCCTGTGGTGCTTCAACGATCACACTCCTTGTCCACTTTCATGCTCCTCCCGTACTCCTGGTTCCTCTTTGAAGTTCGTAGCAGATAGTGGAAGAAGAAAGAGTGAAAGTCTTAAAGTCTTTGATCTTTCTTGTAAGTGCATAGAAGAAAATGCTGACATATGCTGCCTTCCCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTGGTCAACATATTAGAAGCTTATAGGCCTCCCTGACCCCAGGCACTGGTCCCTTATAGTAGCAGCTGTTCTAGGGATCAGACCCGAAACAAATGCACCGAGCTCACAGCTCCAGGCCTCAGAATCGGCCTCGTCCAACTCAGAGGGCAGCGAAGGGCACCCTGAGTGCAGCTGCTCCCCTCAGGGTCTCAGCTCCCTCCTGGCTGCTCGGCCTGGGCCCACCCTTCCTACCAGGAGAACCCTGGGGTTAGAGGGTGTTGCTTTTTGCCAAGAGCCCAGGCCCTTCTCACGGGCCTGGGTGGGGGGTCTGACTCCCCACCCTGAACCCAGGCCATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGC
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CACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGCACAAACTGTTTCGGTATAATAAAGAAAATAGTTAGAATAACAATAGTTATAATACAAATTAGATATAGAGATGATCATGGACATTATCAATCATTAGTATAAACATTATTAATCATTAGCTCTTAATATTACTCTTTGTTGTATTACTAATATAACCAAGAAATAACTGGCGGGTATAGGGTCAGGTGCTGAAGGCACATTGTGAGAAGAGACCTAGAAGGCAAGAGGTGAGCCTTCTGTCACACCTGCATAAGGGCCGCTTGAGGGCTCCTTGGTCAAGCAGTAACGCCAGTGTCTGGGAAGGCAACCATTACTTAGCAGACCATGAAAGGGAGTCTCCTTTCCTTGGAGGAGTCAGGGAACACTGCTCCACCAGCTTCTTGTGAGAGGCTGGATATTCTCCAGGCCTGCCCGCAGTCATCCGGAGGCCTAACCCCCTCCCTGTGGTGCTTCAACGATCACACTCCTTGTCCACTTTCATGCTCCTCCCGTACTCCTGGTTCCTCTTTGAAGTTCGTAGCAGATAGTGGAAGAAGAAAGAGTGAAAGTCTTAAAGTCTTTGATCTTTCTTGTAAGTGCATAGAAGAAAATGCTGACATATGCTGCCTTCCCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTGGTCAACATATTAGAAGCTTATAGGCCTCCCTGACCCCAGGCACTGGTCCCTTATAGTAGCAGCTGTTCTAGGGATCAGACCCGAAACAAATGCACCGAGCTCACAGCTCCAGGCCTCAGAATCGGCCTCGTCCAACTCAGAGGGCAGCGAAGGGCACCCTGAGTGCAGCTGCTCCCCTCAGGGTCTCAGCTCCCTCCTGGCTGCTCGGCCTGGGCCCACCCTTCCTACCAGGAGAACCCTGGGGTTAGAGGGTGTTGCTTTTTGCCAAGAGCCCAGGCCCTTCTCACGGGCCTGGGTGGGGGGTCTGACTCCCCACCCTGAACCCAGGCCATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCCCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGC
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Task1_train_14748
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This mutation occurs in ECHS1 (enoyl-CoA hydratase, short chain 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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CTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTGGTCAACATATTAGAAGCTTATAGGCCTCCCTGACCCCAGGCACTGGTCCCTTATAGTAGCAGCTGTTCTAGGGATCAGACCCGAAACAAATGCACCGAGCTCACAGCTCCAGGCCTCAGAATCGGCCTCGTCCAACTCAGAGGGCAGCGAAGGGCACCCTGAGTGCAGCTGCTCCCCTCAGGGTCTCAGCTCCCTCCTGGCTGCTCGGCCTGGGCCCACCCTTCCTACCAGGAGAACCCTGGGGTTAGAGGGTGTTGCTTTTTGCCAAGAGCCCAGGCCCTTCTCACGGGCCTGGGTGGGGGGTCTGACTCCCCACCCTGAACCCAGGCCATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAAGCGGTCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACGCCGTCTCTACCTAAAATACAAAAAATTAGTCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAGTGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCA
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CTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTGGTCAACATATTAGAAGCTTATAGGCCTCCCTGACCCCAGGCACTGGTCCCTTATAGTAGCAGCTGTTCTAGGGATCAGACCCGAAACAAATGCACCGAGCTCACAGCTCCAGGCCTCAGAATCGGCCTCGTCCAACTCAGAGGGCAGCGAAGGGCACCCTGAGTGCAGCTGCTCCCCTCAGGGTCTCAGCTCCCTCCTGGCTGCTCGGCCTGGGCCCACCCTTCCTACCAGGAGAACCCTGGGGTTAGAGGGTGTTGCTTTTTGCCAAGAGCCCAGGCCCTTCTCACGGGCCTGGGTGGGGGGTCTGACTCCCCACCCTGAACCCAGGCCATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGACATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAAGCGGTCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACGCCGTCTCTACCTAAAATACAAAAAATTAGTCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAGTGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCA
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Task1_train_14749
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Consider a variant on Chromosome 10 in gene ECHS1 (enoyl-CoA hydratase, short chain 1). Determine its clinical classification and disease relevance.
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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CATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAAGCGGTCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACGCCGTCTCTACCTAAAATACAAAAAATTAGTCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAGTGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACG
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CATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGTCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAAGCGGTCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACGCCGTCTCTACCTAAAATACAAAAAATTAGTCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAGTGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACG
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Task1_train_14750
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With a mutation on Chromosome 10 in gene ECHS1 (enoyl-CoA hydratase, short chain 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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GAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAAGCGGTCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACGCCGTCTCTACCTAAAATACAAAAAATTAGTCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAGTGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTC
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GAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTGGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAAGCGGTCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACGCCGTCTCTACCTAAAATACAAAAAATTAGTCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAGTGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTC
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Task1_train_14751
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The gene ECHS1 (enoyl-CoA hydratase, short chain 1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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AATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGCGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAAGCGGTCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACGCCGTCTCTACCTAAAATACAAAAAATTAGTCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAGTGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCG
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AATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACACATCATGGCAAGCTCACAGCCCCCGCCAAACTGTAAAACATTCGGCATCAGGAGAGTCTTACCAGGGGAACCCAGTCAGAAATCACTCTGCTTGCTTATTCAAATTTTCCATTTAAAAGAAACAGTGTTGGGGGTATGACAAAGACTAACATGGTGGCACCAAACTAGATAATTGTTATGATAAGTTAACTACAGATGGTTGATGCTGTTTACCAGGGGCTGGCAAACATCCTGTAAAGGACCATGAGGGTCTTACAGGCTCTGCTGCCACGACTCAACTCTGCTGCTGTGGCCGAAATGCAGCCACAGAGACTAGGTGCACAGGTGGGTGTGGCTGTGCCGGGAAAACTCCATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGGCTTACACGGCAGGGAGCGTCATGAAATGATCACATTGCCTTCCCTATAGGCCAAGATCAGTCTCAGCACTTCAAATAGTCCCAGGACACAGAGCTTTCAAGGGGAGCAAAAGAAGCTAGTTTATAGATGTAGCCAAAGCCAACACCTCTCTTCCCCCACCCTGGAAGAGAGGCTTGCTGGGGAGAAGCTGTCAGGTGAACAGCCACGAAAAAAGCAGATGCCAGGAGGTGTCCTCTCCACACAGTTCCTGGCTCTTTAGCACCATGAGGCAGGAAAGGAGGCTGCTGGCCTGGGAACTAAAGGCCTCTTCAAAATAAAAATCTGTTATGCTGTGTATGCACAGCACGGTTCCTTCAACCACGAGAGGAGGAGACTCTTGGCAGCAACACTCACGGCATAGCCATTGACAGCAGCGATGACTGGCTTCTTGACCTGGGTGAGGTGGTCCCAGTGCTTCAAGAACTTGCTGGAGTAACAGTCCTGGAAACTCAGGTTCTGCATTTCCTTGATATCAGCTCCAGCTAGCAGGAGTGGAAAGGAGGTTCCAGTTACCAGAGAGCAGAGAGCCCACCCATCCTATATCTCTCAGACCAACAAGGAACTTCAGAGCACACCAGACACAGGCAGTGGGGTTGCTGGGCACGGCTGACACCAGGCCACGTGGACAGCTGTAGGGACGCTGTAATGCCAGCTAGAACAGAAGTCACGCAGAGGGGCCCTGAGGCAGGCAGCAGGTGCAAGGGAGGCGCCCACAGAGGCTAGGCATATTTGTCAGGGCATAAGCCCTTGACACACACAAAGCCTGACTGCCAAGGACCTAAACCCCTTTGAAGAAGCTGTTTTGCTGGTGGAGCACATGCAGCTCTCTGGCATACACAAAGCTGCTCATGCAAGCCGTTCCCATGACCGTCTTCACTCGATATTTGAGGAAGTCCCCAGTCGCATGCCTCTGCCATCACAGAGGCGCAAATCTGTCTGGAGGCTTCTCCCAAGGCCATACGTGCCTCCCACATCTGCCCAGACACAAAGGCCTCTGCTGCCGCGCGTACCTGCAAAGGCCTTATCCCCGCCGGTGAGGACAATGGCCCCCACGGCCGGGTCCTCCTCGAAGGTCTTCAGGGCCTGGTTGAGCTCGTCAATCAGGCCATCGCAAAGTGCATTGAGGGCCTTGGGGTGGTTCAGTTGGATCAACCCCACGGTGTTATTCTTCCCTCTTTTTTCTGCGATGATGTACTCAAAGTTAGCACCTGGAGCAAGAAGGCAAAAAGGGGTATCTATTCACACAGGTATCAAACTGGGGAGAGTGGGGGAAGGGATGTGGCCCCATCGGTGGATACAGTGTGACCCCAAGAGGCCCTCTGAGGGCTCCCTGCCGAGTCCTCAGTGGCTCCAGGTGTAGCTCTCAGCCACAAGGATAGATGGTAGCCTTGGTACCATTCTCTCTGCTTTCACATGTGTTTGAACATGTCCTAAAGAAAATCCCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAAGCGGTCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACGCCGTCTCTACCTAAAATACAAAAAATTAGTCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAGTGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCG
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Task1_train_14752
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This sequence change occurs on Chromosome 10, altering ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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GCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCCATGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCAC
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GCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGAGGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCCATGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCAC
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Task1_train_14753
|
Given a variant located on Chromosome 10 and affecting ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
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AAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCCATGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCACAAAAGCACAAGCAACAAAGGGAGAACATATGTAAATTGGATTTCACCAAAATTTAAAACTTTTATGTCT
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AAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGACCATGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCACAAAAGCACAAGCAACAAAGGGAGAACATATGTAAATTGGATTTCACCAAAATTTAAAACTTTTATGTCT
|
Task1_train_14754
|
The gene ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977), on Chromosome 10, 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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AAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCCATGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCACAAAAGCACAAGCAACAAAGGGAGAACATATGTAAATTGGATTTCACCAAAATTTAAAACTTTTATGTCTGA
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AAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCGATGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCACAAAAGCACAAGCAACAAAGGGAGAACATATGTAAATTGGATTTCACCAAAATTTAAAACTTTTATGTCTGA
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Task1_train_14755
|
This genomic variant is located on Chromosome 10, within the ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not provided
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AAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCCATGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCACAAAAGCACAAGCAACAAAGGGAGAACATATGTAAATTGGATTTCACCAAAATTTAAAACTTTTATGTCTGAA
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AAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCCGTGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCACAAAAGCACAAGCAACAAAGGGAGAACATATGTAAATTGGATTTCACCAAAATTTAAAACTTTTATGTCTGAA
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Task1_train_14756
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Here is a genetic alteration in ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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AGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCCATGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCACAAAAGCACAAGCAACAAAGGGAGAACATATGTAAATTGGATTTCACCAAAATTTAAAACTTTTATGTCTGAAA
|
AGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAATGGGAGACGCAGGCGCTTCTCGGTTGGCCTGCTGCACAGGACCTGCGCCTGCTGGGTGGACAGCAAGGTGGGAAGGAGACAAAGGACAATGGCGTTCCAGGGGTGAGAAGGTGAACCTGAAAAGACAAAGGTAGCCTGTGTGTTGGATGCTTGCCTCCGTTAGTGGCAGAGCAGGGATCATAGTCCCTGTGCTATGGGTTTCTTTTTTTTGGAGACCGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCGACCTCTGCCTACAGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGTCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGATGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACTGTGCCCCGCCGTATCCTGTGGGTTTCTAGGGGTAACTGGAAGATCACAGGTGAAGTGTCTGGCAGCAGTGCCCGCCATGCAAGATCCAGGAAAGGGCTGCTGTCAGGGTGGAGAAGCCGAAGGCCAAGGAGAGCATGGAGATGAAACCAACACAACTCAGTGGTCCACTGCTACACAGGGTGAGGGAGGAAGAGGAAGCAAGAGTTCTTCCCCAGCCCAAGGCATGGCCCAAGATTCCTCAGATACTAGAGCCGGTGATGGCCGCTCATGAGTGGGGCCCCGGGTGAGCCACGAGGGAGGAAGAGGGCAGCCCCCTGTGGCTGGGGAGGAGGTGTCAGCTTTTCCCTTAGGACCCTCTGAGGGGTGGCCCTGGTCAGGAGGCACCCAGGACAAAATGCACCTGCATCTCCTGTTCTCGGGCTGGCCGGCTGCACAGGAGCTACGCCTGCTCTTAGAGCCGAGGGAACACCCCGGATTTTTACAACCCCCACCCTGCGCCCAGTTGGCCAGAGGTCTTGGCACTGGGGCAGTACCAGCCAGCCGCCGGGCCTCCCGCAGGACGTGGCCTGGTGAGAGTGGCCTCCTGCAGAGCCAGGCAGGGGGTGGGGGTGCGGGCCAGGGTCAGGTGGGTGGTGTCGGTGCGGGGTGGCGGGTGGTGGGGGGGTGTTAAGCCTGGGTCAGGCTGTGGGTGCGGGTCAGGTGGGGGGTGCAGCACTAGGCGAGGGGGGTGTTGCAGGCCTGAGCCAGGCAGGGGCTGCGGGTCGGGGTCAGGTGGTAGGTGCGGGGTCAGGCAGGAGAGTGCGGAGTCAGGCCCTGGGGATGCGGGATCGGACGGAAGAGGGGTGCGGGGTCAGGCCGGGGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGCCGGAGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCGGGTAGGGGTCAGGTGAGGGTGCGGGGTCAGGCGGAAGAGGGGTGTGGGTTGGGGTCAGGTGGGGGATGCGGGGTCAGGTGGGAGGGGGGTGCGGTCTGGGATCTGGTCTGGGCGTGCAGGTCGGAGTCAGGAGGAGATTCGGGCCGCCAGCTCTCACCGCGCACTCACCCGAGGCGAAGGGACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGACGCAGGACAGCAGGACACGCAGGGCGGCCACGGCTCTCTGGACTCCTCGCCCGGCCCCGCGGAGCCGCCCCCTCGCCTATAGCCTTTCAGGGCTCGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCCCAGGCCCGAGCTGCCGCTCGCGGATCTAAGGCCGAGGGGCGTCCCCGGGACCCCGCCCTGGGCTGGGACCAGCGCCCTCCAGGCCCCGCCGCAGTCGCCCGCGCCCCCGCCCCCGCCCCAGCCCTCGGGGTCCCAGCTGGCCCCGGGGAGACCGCGCGGAGGCGGAGGCAACGGCGGCGCCTGCCGGGCTCTGCGCCGCCTCCCCCCGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCGGCGTCTGTAGCAGCGGACACAGCGCGCCCAGGCGCAGGGCCAGGCACGGTGGCAGCGGCGTGGGCACTGAACGCCACATTAGGAGGAGTTTTATTTTCATGCACACAAGACTTCAACAGATTTAAATAATAAAAATTTCATTCATTTAAGTTATTTTATTTATACCTTTTAAATATCTAGACAAGTATTGTGGAGCATCCATTTGTGTACTTGCCCGGATTCTGCAAACGCCAGGGTGGAGATAAAACCACCCTGGATAAAATGGAATGGAAAGCGAAACTGCTATTGTGACCGGTGGAGGGTGTCCAGGTTCTTGACGTCTTGAACAAAGAACTGGACAAAACGCACAAACAAAGCACGGAAAGAAGGAAGCAACAAAAGCGAGATTTATGGAAAACAAAAGTGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGACGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCCCTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTGGTCTTAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGCGATAGAGCCAGACTTCGTCTCAAAAAAGAAACAAGAAAAGACAACGAAAATAACTCCACACTGTGGGAGCGGCTGAGCATAGCGGCTCAAGAGCCCCGTTACAGATTTTTTGGGGGGGTTAAATACCCTCTAGAGGTTTCCATTGGTTACTTGGTGTACGCCCTGTGTAAATGGAGAGGACACTTCTTGTCATAGCGGAAGTGTTTCCATTTGATTTAGTTCTAGGGAGTCAGCATGAATTGGCCTCCAGACCCTGTTCTCCTGCCTCACTATGTTCAAGAAAATAATTCAATTCAAACCAAAAATGAACATGCACCAAAATTTTATTTCAAGACCGAGGGTAAAAATGAAGACATCTCGTGTAAGTAGAAACAAATCAACAACAAACCTCAACAAACCTTTAGTAAACGATGCTCTATACTAGTGTAGTTAAACCTCTGGGACAGACAGGCCCAAAATGAAATGGCTCAGACAGAAAAGAGGTTTATTTCCTTCCTTCCTTCTCCTTCACCTTCTCTTCTTTCCTTTCTTTCTTGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGTGTCATCCCGGCTCATCATAGCTTGCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACGGGTGCTTACCACCATGCCCGGCTAATATTTGTAGTTTTTTAGTAGAGTCGGGAGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCCACCGGTCTCGGCCTCGCAAAGTGCTGGAATTACAGGAGTGGACCACCGTGTCCGCCAAGAGGTTTCCTTTCTAACGACCCAGGAGGCCGGGCAGCTCCCGTCCTCCATCAAGTAATGTAGCCACAAAAGCACAAGCAACAAAGGGAGAACATATGTAAATTGGATTTCACCAAAATTTAAAACTTTTATGTCTGAAA
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Task1_train_14757
|
This mutation occurs in IFITM5 (interferon induced transmembrane protein 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Osteogenesis imperfecta type 5
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ACCCTGGGCCACTGTGCTGTTAACCACCACCTCCCGGCAATGGCTGGCCTCAGCGAGGCCCCAGGGCCTCCCCGCAGCCTCGCAGTGTGCATGTCCCTGGCCCTCTCCCATCACCAGGCTGTGGTGGGTGTGTGGGGAGGCTGTGGTACACAACGCAGGTAAAATAATATGAGAACATGCACCCAGCACCAGGGGACTCAGAGAATGTTGCACACATGCCCATTTTCTGCCTTTCTGGATATAGTTTGGTTGGGGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAAAGGGAAGCTGCTATCCTTCCCACATGTGTTTGTGTGTGTGTCCAGCCCCACCCATGGGATCGTCCCCGCCCTGCCTTTCTAGCCACCCTCACTGGCCCAGGAGGGAGGGAAACCACCGTGGGGACTGGGATTTCTCAGAATTAAGGGGGCACGCAGGGTCATGGGGACAGACAGAATGACCCAGAAAGGAAGGAGGTGTACACCAGACCGCAGATGGAGCCCACCCACAGGCACGGACTCTCACGCAGACTTCGAGCACGCACACACATGCGCACAGAGAGATGGGGTGGACACACGTGGGGTTGGGACGCACCCATGATGTTCTGGAGCACAGGCCGCTAAACCACAGAGCAGCAGAGATCAAAGGCCTGGGCTCTCAAACTTAGTCTAAAATACTCTGGGCCTCCGCCCCGTAAGCCACAGGCCGCCCAGTGGCTGAGAGAAGGGGACAGTTGGGGCCAAGCAGGGCTGCTGAGCTGCGGGGGGCGCTCCCGCCACTGACTCTGGGGGCTGGCCCTGTGGCATTTGGCTTTGGTGGTCCCTAGGGCAGCTCCTTCCCCCACGCTAGGCAGGAAAGAGGCCAGGAGGCACTTTCTGGAACCAGGCACTTTTAATCGTGGAACCGAGGGGCCTGGAGTGTGAGGAGGGAGGGGCAGGATCGGGGGCAGAGTTAGGGCCCGGGAACTCTCGGGTTAGGGTGAAGACCCCGGGGTCTGACTGGTTCAGCCTTAGGTGCCCATGTTGGGGCTGGAGGGCCCCAGGATCAGGATGGGGCAGGGATGGAGGCCCCACAGAAGGAGGGCCAGGCTCCGGGGAGTCAGTATTGGGCCCCAGGGGCAGCAGCCTGGGGTCAGTGTCCTGGGGCTAGTGCCCCAGATCAGGACCCAGCCTGTCAGTCATAGTCCGCGTCATCAAACTTGGTGCTGAAGAAGGCGGCAGAGTCCTTGGCCAGCCGGGCCAGGTGCAGGGCACCAGTCACCACCAGCCCCAGGAGCAGCAGTGGCGGCACCAGCGTCCACATCGCGGCCAGGATGTTGTAGCACTTGGCTTTGGAGCCAAAACGCCGGGCCGCTTCCAGGTCACCAACCACCTTCTGATCTCGGGCCTGCAGAGAGACCAGACCACAGGGCCAGATCTCTATGTGTCCTCGGGGCCTGGGGGCCCTTCCCCACCCACACCCTGGGCACCTGGAAGGCCCCTACTGCACCCAAAATCTGGATGGAGGGGTGTGGCCTGAGGAGATACTCCTTGGGGCCCCAGCTATGGACCCGGGGGCCATCCCAGGCCAGTGTCAGCCTATCAGAGCTCTCTATGGGTGAGGGTCCCCCAGGGTGCTGAGACACCCCCCACCCTGCCAGCCAGGAGCTGAAGTCAAAGGGACCTCTGTTCCAGAAGCCCACAGCATGTGAACCCCCTCTTGATTGCAGAGACCTCTGTGGGTGCCTCCCAATGGCCTCTGTGCTCTTGGATGGGCCAGACCCCGTTAAGAAGAGGCCCCCCGGCCTTGCCTTCGTGAGGAGCTCTTTCCCGGCCATACTGATAGCTGTGCCCACAGAGCCCCTCACGGACAAGCAGAGCCCCCCGCGGCCCCCAGCACGGCAAGGACCCCCCACGGAGCTCCCCATCCCTCCCCCTTCCCCCCACCTTGATGGAGTAGTGGAGCCTCCCCCGCAACCTCGGTAGGGCCCCTGCCCACCTTGATGGAGTAGGCCAGCGCCAGGAAGCCGAGGCAACACAGATTCAGGTAGAGGGTGCTGAACACCGACCAGATCAAGTGGTCTCGAGGCGGGGGGTGCGGGGCCCCCAGTGTGAGGGCTGTGTGGGCACCGGCCTTGCTGGGCGTGGGGGCCCGGGTGTCCTCGCGGGGATACGCCGTGTCCATGGGTTCCAGCGCCGTCTCTTCCACACTCAGACTGGTGCTGGGAGGGTGGGCACCCGCTCACTTATAGCCCTGTCGCCCTCCCGGCCCAGCCCCTCAACGCTATATATAACACAAATTACAGCCTGCGGGCCGAGGGTGCGGCCCGCCCCTTAGCCCCCACCCCAGGGAGCCCCTGTCCGAGGCTGCCTTGGACCACCCAGCAGGGTCCCTCCTGACAGACATCCCATCTGGGAGCCCCCCGCTTGGAAGGCTACGGCCGGGCAGTGGCAGAGACCCCCACCCATCCCCCCACCCCCATCAAAGGCTGCTGGCCAAGTGGGCAGTGGGCAGACCACTGGCCAGAGCCCCCTCCGTCCAGGCCAAGAAGAGTTGGAGGTGTCGCCTCAGGGCCATGGGCCTCATAATTCAGGGATGTACAGGAGCCCCCTCCTCAGAACCAGAGCTGCTGAAACTGCAGCCCCTTCATTCCCAGAACTCAACTCTGCCCCTAACACTCTCAGAGCACCAGCGCCAGGCCCTAGGAGCGCAGGCATCCCTGCAAGGGGGACAGGGAGGGCGGCTGTCGGAGGAGGGCGCGAGAGAGAAGGAGAGAACCACATGGGGGGAAAGCCAGGGGGTGCAGCCTGTTAGGAGCCGGCAGGGGAACCCCCAGGGACCAGCAACAGCTGTTAACACTGGTGTCGGGATGCAGGGAGCCTGTGGGCTCCTGTGGTGGACACTCCCCTCAGCCTCCTCGGCTGCCCTCCCTGATCCCAGAATGTCTGTGGTGAGTGGTCCTGTTTAGGGCTCAAGGTCCGCCCCAGTCTTGTCTCTGGCTGTAGATGCCTGTGTGTGCTGACGACTCACATTTATGTCTTCAGCCCAGACTTCCCCCCAAAGACATTGGCTTGGTCCCCAGCTCTGGACACACACACGCAACTCCTGCTCTGTGGACCTCCACCCACGTGCCAACAATAGACCCTGGATCCTCCCTCCCAACCTCCTCTGCCAAGCCTTCCCCGGAGCAGTGGTGGCAACTGCACCGGGCCAGAAGGCTCAGCTTCCCCGTCTCCCAGTCGGCCACACTCCTGAGTGCCCAGGACCAAGCTGCCCTCCCTCCTCCAGGACGCACACTCGCCACCTGCAGGGGATGGTTGGGTGGGGGGTTCCTTGCTGCTGTGCTTGAGCCTGTGAACCCCAAATATCTGAGACAGGTCTCGGTTAATTTAGATTATTTTGCCAAGATTGAGGATGTGCCTGTGACAGCCTCTGGAGCTCCTGAGGATCTGTACCCAAGGTGGTCGGAGCACAGTTTGGTTTTATACATTCTAGGGACACAGGAGACATCAGTCAACATATGTAAGATGAACATTGGTTCAGTCTGGAAAGGCAGGACAATGCAAAGCAAGGCAGGGAAGACTCGAAGTGGGGAGGCGCTTCCCGGTCGCAGGTAGATAAGAGACAAAGGTTGCATTCTTTTGAGTTTCTGACTTGCTTCTCCAAAGGAGGCAACCAGATATATGCATTCACCTCAGTGAGCAGAGGGGTGACTTTTTTTCTTTTGTTTTTGTTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATTTTGGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCCGCTGGCACTACGGGCTCCCGCCACCACGCCCGGCTAGTTTTTGTATTTGCAGTCGAGACGGGGTTTCACCATGTTGGTCAGGATGAAAAAAGCTAACTCTGTAAAGTATTTAAAGAGGTTTGTCCTACGCCGAATATGACTGACCACGGCTCATGATACAGCCTCCAGAGTTCCAGCAAACGTGCCAAAGGTGGCTGGGCTACAGCTTGGTTTTATACATTGTAGGGAGACAGAAGTTGCAGGCAAAGA
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ACCCTGGGCCACTGTGCTGTTAACCACCACCTCCCGGCAATGGCTGGCCTCAGCGAGGCCCCAGGGCCTCCCCGCAGCCTCGCAGTGTGCATGTCCCTGGCCCTCTCCCATCACCAGGCTGTGGTGGGTGTGTGGGGAGGCTGTGGTACACAACGCAGGTAAAATAATATGAGAACATGCACCCAGCACCAGGGGACTCAGAGAATGTTGCACACATGCCCATTTTCTGCCTTTCTGGATATAGTTTGGTTGGGGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAAAGGGAAGCTGCTATCCTTCCCACATGTGTTTGTGTGTGTGTCCAGCCCCACCCATGGGATCGTCCCCGCCCTGCCTTTCTAGCCACCCTCACTGGCCCAGGAGGGAGGGAAACCACCGTGGGGACTGGGATTTCTCAGAATTAAGGGGGCACGCAGGGTCATGGGGACAGACAGAATGACCCAGAAAGGAAGGAGGTGTACACCAGACCGCAGATGGAGCCCACCCACAGGCACGGACTCTCACGCAGACTTCGAGCACGCACACACATGCGCACAGAGAGATGGGGTGGACACACGTGGGGTTGGGACGCACCCATGATGTTCTGGAGCACAGGCCGCTAAACCACAGAGCAGCAGAGATCAAAGGCCTGGGCTCTCAAACTTAGTCTAAAATACTCTGGGCCTCCGCCCCGTAAGCCACAGGCCGCCCAGTGGCTGAGAGAAGGGGACAGTTGGGGCCAAGCAGGGCTGCTGAGCTGCGGGGGGCGCTCCCGCCACTGACTCTGGGGGCTGGCCCTGTGGCATTTGGCTTTGGTGGTCCCTAGGGCAGCTCCTTCCCCCACGCTAGGCAGGAAAGAGGCCAGGAGGCACTTTCTGGAACCAGGCACTTTTAATCGTGGAACCGAGGGGCCTGGAGTGTGAGGAGGGAGGGGCAGGATCGGGGGCAGAGTTAGGGCCCGGGAACTCTCGGGTTAGGGTGAAGACCCCGGGGTCTGACTGGTTCAGCCTTAGGTGCCCATGTTGGGGCTGGAGGGCCCCAGGATCAGGATGGGGCAGGGATGGAGGCCCCACAGAAGGAGGGCCAGGCTCCGGGGAGTCAGTATTGGGCCCCAGGGGCAGCAGCCTGGGGTCAGTGTCCTGGGGCTAGTGCCCCAGATCAGGACCCAGCCTGTCAGTCATAGTCCGCGTCATCAAACTTGGTGCTGAAGAAGGCGGCAGAGTCCTTGGCCAGCCGGGCCAGGTGCAGGGCACCAGTCACCACCAGCCCCAGGAGCAGCAGTGGCGGCACCAGCGTCCACATCGCGGCCAGGATGTTGTAGCACTTGGCTTTGGAGCCAAAACGCCGGGCCGCTTCCAGGTCACCAACCACCTTCTGATCTCGGGCCTGCAGAGAGACCAGACCACAGGGCCAGATCTCTATGTGTCCTCGGGGCCTGGGGGCCCTTCCCCACCCACACCCTGGGCACCTGGAAGGCCCCTACTGCACCCAAAATCTGGATGGAGGGGTGTGGCCTGAGGAGATACTCCTTGGGGCCCCAGCTATGGACCCGGGGGCCATCCCAGGCCAGTGTCAGCCTATCAGAGCTCTCTATGGGTGAGGGTCCCCCAGGGTGCTGAGACACCCCCCACCCTGCCAGCCAGGAGCTGAAGTCAAAGGGACCTCTGTTCCAGAAGCCCACAGCATGTGAACCCCCTCTTGATTGCAGAGACCTCTGTGGGTGCCTCCCAATGGCCTCTGTGCTCTTGGATGGGCCAGACCCCGTTAAGAAGAGGCCCCCCGGCCTTGCCTTCGTGAGGAGCTCTTTCCCGGCCATACTGATAGCTGTGCCCACAGAGCCCCTCACGGACAAGCAGAGCCCCCCGCGGCCCCCAGCACGGCAAGGACCCCCCACGGAGCTCCCCATCCCTCCCCCTTCCCCCCACCTTGATGGAGTAGTGGAGCCTCCCCCGCAACCTCGGTAGGGCCCCTGCCCACCTTGATGGAGTAGGCCAGCGCCAGGAAGCCGAGGCAACACAGATTCAGGTAGAGGGTGCTGAACACCAACCAGATCAAGTGGTCTCGAGGCGGGGGGTGCGGGGCCCCCAGTGTGAGGGCTGTGTGGGCACCGGCCTTGCTGGGCGTGGGGGCCCGGGTGTCCTCGCGGGGATACGCCGTGTCCATGGGTTCCAGCGCCGTCTCTTCCACACTCAGACTGGTGCTGGGAGGGTGGGCACCCGCTCACTTATAGCCCTGTCGCCCTCCCGGCCCAGCCCCTCAACGCTATATATAACACAAATTACAGCCTGCGGGCCGAGGGTGCGGCCCGCCCCTTAGCCCCCACCCCAGGGAGCCCCTGTCCGAGGCTGCCTTGGACCACCCAGCAGGGTCCCTCCTGACAGACATCCCATCTGGGAGCCCCCCGCTTGGAAGGCTACGGCCGGGCAGTGGCAGAGACCCCCACCCATCCCCCCACCCCCATCAAAGGCTGCTGGCCAAGTGGGCAGTGGGCAGACCACTGGCCAGAGCCCCCTCCGTCCAGGCCAAGAAGAGTTGGAGGTGTCGCCTCAGGGCCATGGGCCTCATAATTCAGGGATGTACAGGAGCCCCCTCCTCAGAACCAGAGCTGCTGAAACTGCAGCCCCTTCATTCCCAGAACTCAACTCTGCCCCTAACACTCTCAGAGCACCAGCGCCAGGCCCTAGGAGCGCAGGCATCCCTGCAAGGGGGACAGGGAGGGCGGCTGTCGGAGGAGGGCGCGAGAGAGAAGGAGAGAACCACATGGGGGGAAAGCCAGGGGGTGCAGCCTGTTAGGAGCCGGCAGGGGAACCCCCAGGGACCAGCAACAGCTGTTAACACTGGTGTCGGGATGCAGGGAGCCTGTGGGCTCCTGTGGTGGACACTCCCCTCAGCCTCCTCGGCTGCCCTCCCTGATCCCAGAATGTCTGTGGTGAGTGGTCCTGTTTAGGGCTCAAGGTCCGCCCCAGTCTTGTCTCTGGCTGTAGATGCCTGTGTGTGCTGACGACTCACATTTATGTCTTCAGCCCAGACTTCCCCCCAAAGACATTGGCTTGGTCCCCAGCTCTGGACACACACACGCAACTCCTGCTCTGTGGACCTCCACCCACGTGCCAACAATAGACCCTGGATCCTCCCTCCCAACCTCCTCTGCCAAGCCTTCCCCGGAGCAGTGGTGGCAACTGCACCGGGCCAGAAGGCTCAGCTTCCCCGTCTCCCAGTCGGCCACACTCCTGAGTGCCCAGGACCAAGCTGCCCTCCCTCCTCCAGGACGCACACTCGCCACCTGCAGGGGATGGTTGGGTGGGGGGTTCCTTGCTGCTGTGCTTGAGCCTGTGAACCCCAAATATCTGAGACAGGTCTCGGTTAATTTAGATTATTTTGCCAAGATTGAGGATGTGCCTGTGACAGCCTCTGGAGCTCCTGAGGATCTGTACCCAAGGTGGTCGGAGCACAGTTTGGTTTTATACATTCTAGGGACACAGGAGACATCAGTCAACATATGTAAGATGAACATTGGTTCAGTCTGGAAAGGCAGGACAATGCAAAGCAAGGCAGGGAAGACTCGAAGTGGGGAGGCGCTTCCCGGTCGCAGGTAGATAAGAGACAAAGGTTGCATTCTTTTGAGTTTCTGACTTGCTTCTCCAAAGGAGGCAACCAGATATATGCATTCACCTCAGTGAGCAGAGGGGTGACTTTTTTTCTTTTGTTTTTGTTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATTTTGGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCCGCTGGCACTACGGGCTCCCGCCACCACGCCCGGCTAGTTTTTGTATTTGCAGTCGAGACGGGGTTTCACCATGTTGGTCAGGATGAAAAAAGCTAACTCTGTAAAGTATTTAAAGAGGTTTGTCCTACGCCGAATATGACTGACCACGGCTCATGATACAGCCTCCAGAGTTCCAGCAAACGTGCCAAAGGTGGCTGGGCTACAGCTTGGTTTTATACATTGTAGGGAGACAGAAGTTGCAGGCAAAGA
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Task1_train_14758
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Here is a mutation in LRRC56, HRAS (leucine rich repeat containing 56| HRas proto-oncogene, GTPase) on Chromosome 11. 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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GAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGTGTTCGCTGGAGAGAAGGGCGAGTGTGGTATTCCCTGGACAAAAGGGGGAGTGTCCCTGCAGCCCTGGCCAGCCAGCGGCATGCCCTGCTAGCTCTCCCCCAACCTCAGGGATAGGGAACCCTGACAGGGCACAAGTCCCCGTCCCAGAGGGGCCTGGCCCAGCCTCAACCCGGGCCCTGGGAGGGGAGGGGCACCAGGGGCGCTGTGGGCCCCCAGCAGAAGCCAGGATGACCACACAGGGGACTGAGCTGTCTGTGGCTGTGGCCAGACCTAGAACTTGGCCCAAGGCAGGGCAAGCCCCTTGGAGCAGAGTGGGTGGCAGAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGGGGCAAGGGTAGGGTGAGGGCAGGGGCGGGGGAGAGTGGGGCAGGAGCAGACGGACCAGCTGCCAACCTCGTCCACTCCAGGAGGCAGGGATGGCCAGGCTCCCACGCCCTACTGGCCGCTACCCGACCACCAATGAGGCAGAGGCCTGAGGCCAGTCGGTGCTGGAGCCCTACTTCCAAGGTCCACAGACCGCTTCAGGCCACAGAGCCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGG
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GAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGTGTTCGCTGGAGAGAAGGGCGAGTGTGGTATTCCCTGGACAAAAGGGGGAGTGTCCCTGCAGCCCTGGCCAGCCAGCGGCATGCCCTGCTAGCTCTCCCCCAACCTCAGGGATAGGGAACCCTGACAGGGCACAAGTCCCCGTCCCAGAGGGGCCTGGCCCAGCCTCAACCCGGGCCCTGGGAGGGGAGGGGCACCAGGGGCGCTGTGGGCCCCCAGCAGAAGCCAGGATGACCACACAGGGGACTGAGCTGTCTGTGGCTGTGGCCAGACCTAGAACTTGGCCCAAGGCAGGGCAAGCCCCTTGGAGCAGAGTGGGTGGCAGAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGGGGCAAGGGTAGGGTGAGGGCAGGGGCGGGGGAGAGTGGGGCAGGAGCAGACGGACCAGCTGCCAACCTCGTCCACTCCAGGAGGCAGGGATGGCCAGGCTCCCACGCCCTACTGGCCGCTACCCGACCACCAATGAGGCAGAGGCCTGAGGCCAGTCGGTGCTGGAGCCCTACTTCCAAGGTCCACAGACCGCTTCAGGCCACAGAGCCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTACAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGG
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Task1_train_14759
|
Mutation context: Chromosome 11, Gene LRRC56, HRAS (leucine rich repeat containing 56| HRas proto-oncogene, GTPase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Costello syndrome
|
GAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGTGTTCGCTGGAGAGAAGGGCGAGTGTGGTATTCCCTGGACAAAAGGGGGAGTGTCCCTGCAGCCCTGGCCAGCCAGCGGCATGCCCTGCTAGCTCTCCCCCAACCTCAGGGATAGGGAACCCTGACAGGGCACAAGTCCCCGTCCCAGAGGGGCCTGGCCCAGCCTCAACCCGGGCCCTGGGAGGGGAGGGGCACCAGGGGCGCTGTGGGCCCCCAGCAGAAGCCAGGATGACCACACAGGGGACTGAGCTGTCTGTGGCTGTGGCCAGACCTAGAACTTGGCCCAAGGCAGGGCAAGCCCCTTGGAGCAGAGTGGGTGGCAGAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGGGGCAAGGGTAGGGTGAGGGCAGGGGCGGGGGAGAGTGGGGCAGGAGCAGACGGACCAGCTGCCAACCTCGTCCACTCCAGGAGGCAGGGATGGCCAGGCTCCCACGCCCTACTGGCCGCTACCCGACCACCAATGAGGCAGAGGCCTGAGGCCAGTCGGTGCTGGAGCCCTACTTCCAAGGTCCACAGACCGCTTCAGGCCACAGAGCCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCC
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GAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGTGTTCGCTGGAGAGAAGGGCGAGTGTGGTATTCCCTGGACAAAAGGGGGAGTGTCCCTGCAGCCCTGGCCAGCCAGCGGCATGCCCTGCTAGCTCTCCCCCAACCTCAGGGATAGGGAACCCTGACAGGGCACAAGTCCCCGTCCCAGAGGGGCCTGGCCCAGCCTCAACCCGGGCCCTGGGAGGGGAGGGGCACCAGGGGCGCTGTGGGCCCCCAGCAGAAGCCAGGATGACCACACAGGGGACTGAGCTGTCTGTGGCTGTGGCCAGACCTAGAACTTGGCCCAAGGCAGGGCAAGCCCCTTGGAGCAGAGTGGGTGGCAGAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGGGGCAAGGGTAGGGTGAGGGCAGGGGCGGGGGAGAGTGGGGCAGGAGCAGACGGACCAGCTGCCAACCTCGTCCACTCCAGGAGGCAGGGATGGCCAGGCTCCCACGCCCTACTGGCCGCTACCCGACCACCAATGAGGCAGAGGCCTGAGGCCAGTCGGTGCTGGAGCCCTACTTCCAAGGTCCACAGACCGCTTCAGGCCACAGAGCCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAGGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCC
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Task1_train_14760
|
The following genetic variant occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; RASopathy
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GAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGGGGCAAGGGTAGGGTGAGGGCAGGGGCGGGGGAGAGTGGGGCAGGAGCAGACGGACCAGCTGCCAACCTCGTCCACTCCAGGAGGCAGGGATGGCCAGGCTCCCACGCCCTACTGGCCGCTACCCGACCACCAATGAGGCAGAGGCCTGAGGCCAGTCGGTGCTGGAGCCCTACTTCCAAGGTCCACAGACCGCTTCAGGCCACAGAGCCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGT
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GAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGGGGCAAGGGTAGGGTGAGGGCAGGGGCGGGGGAGAGTGGGGCAGGAGCAGACGGACCAGCTGCCAACCTCGTCCACTCCAGGAGGCAGGGATGGCCAGGCTCCCACGCCCTACTGGCCGCTACCCGACCACCAATGAGGCAGAGGCCTGAGGCCAGTCGGTGCTGGAGCCCTACTTCCAAGGTCCACAGACCGCTTCAGGCCACAGAGCCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACCTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGT
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Task1_train_14761
|
This variant affects the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Costello syndrome
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AGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGC
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AGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTTCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGC
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Task1_train_14762
|
Located on Chromosome 11, this mutation impacts HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Costello syndrome
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGACGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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Task1_train_14763
|
A variant affecting Chromosome 11, within the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Costello syndrome
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGACGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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Task1_train_14764
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The gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Thyroid cancer, nonmedullary, 2
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
|
TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGACGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
|
Task1_train_14765
|
This alteration occurs within gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Large congenital melanocytic nevus
|
TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGACGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
|
Task1_train_14766
|
A mutation found in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Linear nevus sebaceous syndrome
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGACGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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Task1_train_14767
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This sequence variant lies in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Malignant tumor of urinary bladder
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGACGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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Task1_train_14768
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This variant affects gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Epidermal nevus
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGACGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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Task1_train_14769
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A variant was discovered in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Costello syndrome
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGTCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTG
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Task1_train_14770
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A variant on Chromosome 11 in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; RASopathy
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CTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGC
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CTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGCCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGC
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Task1_train_14771
|
This mutation is located in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; RASopathy
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TGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGG
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TGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGAGCCCAGGGCTGGACAGGCCTGAGGTTCCGACATACCTCATGCCAGGCCACACGCGCACCGTGTCCCACCCTCAGCCGAAAACCAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGATATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGG
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Task1_train_14772
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Given this variant in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Large congenital melanocytic nevus
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACAACGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14773
|
Given this context: Chromosome 11, gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Costello syndrome
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACAACGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14774
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This genomic variant is located on Chromosome 11, within the HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Costello syndrome
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
|
Task1_train_14775
|
Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Linear nevus sebaceous syndrome
|
CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14776
|
A genetic alteration is present in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Costello syndrome
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14777
|
A variant was discovered on Chromosome 11, affecting HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Large congenital melanocytic nevus
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
|
Task1_train_14778
|
Given this context: Chromosome 11, gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Thyroid cancer, nonmedullary, 2
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14779
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A variant was discovered in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Epidermal nevus
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14780
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A variant found in Chromosome 11 affects HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Malignant tumor of urinary bladder
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14781
|
This variant affects the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; HRAS-related disorder
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14782
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This mutation occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Noonan syndrome and Noonan-related syndrome
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14783
|
A mutation on Chromosome 11 affecting HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; RASopathy
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14784
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This variant impacts the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Non-immune hydrops fetalis
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACATCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCG
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Task1_train_14785
|
This mutation occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Noonan syndrome
|
AAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGT
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AAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACAGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGT
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Task1_train_14786
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A variant found in Chromosome 11 affects HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Costello syndrome
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGACGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14787
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The variant affects gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; HRAS-related disorder
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGACGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14788
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Chromosome 11 houses a mutation in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Cardiovascular phenotype
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGACGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14789
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The gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Costello syndrome
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14790
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Located on Chromosome 11, this mutation impacts HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Noonan syndrome and Noonan-related syndrome
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14791
|
Located on Chromosome 11, this mutation impacts HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Epidermal nevus
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14792
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This mutation occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Linear nevus sebaceous syndrome
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14793
|
A variant affecting Chromosome 11, within the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Large congenital melanocytic nevus
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14794
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Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Thyroid cancer, nonmedullary, 2
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14795
|
With a mutation on Chromosome 11 in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Costello syndrome
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
|
Task1_train_14796
|
Chromosome 11 houses a mutation in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Malignant tumor of urinary bladder
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14797
|
This mutation is located in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Inborn genetic diseases
|
GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGGCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTAC
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Task1_train_14798
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Consider this mutation in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Costello syndrome
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ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
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ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCAGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
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Task1_train_14799
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This mutation occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Linear nevus sebaceous syndrome
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ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
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ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCAGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
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Subsets and Splits
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