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_15200
|
A variant has been detected on Chromosome 11 in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; beta Thalassemia
|
GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
|
GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
|
Task1_train_15201
|
A genomic change on Chromosome 11 affects HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Hb SS disease
|
GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
|
GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
|
Task1_train_15202
|
This gene mutation involves HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Beta-thalassemia HBB/LCRB
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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Task1_train_15203
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Gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Heinz body anemia
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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Task1_train_15204
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The variant affects gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), 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; Malaria, susceptibility to
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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Task1_train_15205
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This alteration occurs within gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Dominant beta-thalassemia
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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Task1_train_15206
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The gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Hereditary persistence of fetal hemoglobin
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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Task1_train_15207
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A variant found in Chromosome 11 affects HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Erythrocytosis, familial, 6
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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Task1_train_15208
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A variant has been detected on Chromosome 11 in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; METHEMOGLOBINEMIA, BETA TYPE
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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Task1_train_15209
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This alteration in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hb SS disease
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCCTGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGT
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Task1_train_15210
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A variant was discovered in gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Dominant beta-thalassemia
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15211
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This gene mutation involves HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hereditary persistence of fetal hemoglobin
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15212
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Here is a genetic alteration in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Heinz body anemia
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15213
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A variant affecting Chromosome 11, within the gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hb SS disease
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15214
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Gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Erythrocytosis, familial, 6
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15215
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An alteration has been detected in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Malaria, susceptibility to
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15216
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A genetic alteration is present in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; METHEMOGLOBINEMIA, BETA TYPE
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15217
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Here’s a variant in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Beta-thalassemia HBB/LCRB
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15218
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Consider a variant on Chromosome 11 in gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). Determine its clinical classification and disease relevance.
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Pathogenic; Hemoglobinopathy
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCACGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTG
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Task1_train_15219
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Here is a variant affecting HBD, LOC106099063 (hemoglobin subunit delta| HBD recombination region) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; delta Thalassemia
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GTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCTAGAACCTCTGCAGTGCCAGTATTATCTTTGTATCAAGAGTTCTTGATAATTTCTGCTCTTTGGAGGTAGAAGTGTCACCCATTAATGCCTTGTACGGTTCCCTTGCTTTTCTCTTTTCCCATGTACTCTTTGTAAAATAAACAAGTGCTCCCTATCTGTAGAGCCTCAGGAACCTTCTTACACACCTGGACAAAAAAATGAAATAAGTGAAATTAATCAGGAAGTTGAGCTGAACATTCTTTATTAGGCAGAAGCCATACCCTTGAAGTAGGCATTGTGTTCCCAAGTTCAGAAAATAGAATCTAGGGAAATAGGGTCTTCTTATGGTTATCAGGAAACAGTCCAGGATCTCAATGGTACTTGTGAGCCAGGGCATTAGCCACACCAGCCACCACCTTCTGATAGGCAGCCTGCATTTGTGGGGTGAATTCCTTGCCAAAGTTGCGGGCCAGCACACACACCAGCACATTGCCCAAGAGCTGCGGAGAAGAGGTAGGCAGATACATGCATATGGTTAACAGAGAAATAAAGACTGGCTTCTGAGAAACTGAGCCAACACCCATTTTTTTCTGCCCAAATCTTAGACAAAACTGATCCCCAGGTTATTCCCATCAGCATAAATAAGTACATATATGAATGCATACATATAACATATATCTATACACACACATCCTCTATGTACTTAACTAGCATGTAGTCTATATATGTACATATATGCTATATATGCTGTATAATACTATATACAAATTAATTCCAAATTAGTTTTAATTTTGTATGTGTATATAGCATATACAAATTAATTACTATAAACAGATTAATAGATACAAATTAATTGATTAATCAGTGTGATGATGGGCTGTCTCCTAGCAACGACTTCTGCCCCACCTCCAGTGTAACTGCCTAGTCTTTCATAATCAAATATTCACTTTCCTTTCCATTCCATTTACTACAGAATTTATAAAATTCCAATTATTCCTTATTGTAAAATGATTTATAGCCTCTAAAACAGTATTCTATGCCTCTCATCTTTGAGTTGGAGCCTCTCCCATACCCATGTGGAGAGACAAAAGGATTATTCTAAGTGCAGAATTAGCAGGTGAGAGCTGGTATGCATAATTTGAGTTGTTGTTAGAGAAGGAAAAATGAAGGGAGGGGGTTGGGAGAGAAAGACAGGATATTAAATAATTTAAAATAGCAAGATTGTGAGGAAGGAAAAAATGCAGAATATTTAAATAAAAAATTAACAAAATTTTAGAAGCATTAAATGATAAAATATAGTAAAATGACAAAAATGTGGGAGAAGAGCAGGTAGGTAAAAGAACCAAAATGTAAGATTAGAAAGTAAAAAGAGAAAAGTGAAGCATCTCCTGGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGCTGAGAAAAAGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCTAGCACCTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGAGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGTAATCTGAGGGTAGGAAAACAGCCCAAGGGACAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTACACATGCCCAGTTTCCATTTGCCTCCTTGAGCCTCTCTTATAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTGCATCCACGTTCACTTTGCCCCACAGGGCATTGACAGCAGTCTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACTGTTATGTCAGAAGAAAGTGTAAGCAACAGTCGACTCTGCCCTGCCTTTTATGCTGGTCCTGTCCTCCCTGCTCCAGTGAGCAGGTTGGTTTAAGATAAGCAGGGTTTCATTAGTTTGTGAGAATGAAAAATGAACCTTCATTCCACTATTCCCTTAACTTGCCCTGAGATTGGCTGTTCTGTCATGTGTGTCTTGACTCAGAAACCCTGTTCTCCTCTACATATCTCCCCACCGCATCTCTTTCAGCAGTTGTTTCTAAAAATATCCTCCTAGTTTCATTTTTGCAGAAGTGTTTTAGGCTAATATAGTGGAATGTATCTTAGAGTTTAACTTATTTGTTTCTGTCACTTTATACTAAGAAAACTTATCTAAAAGCAGATGTTTTAACAAGTTGACTCAATATAAAGTTCTTCTTTGCCTCTAGAGATTTTTGTCTCCAAGGGAATTTTGAGAGGTTGGAATGGACAAATCTATTGCTGCAGTTTAAACTTGCTTGCTTCCTCCTTCTTTTGGTAAATTCTTCCTATAATAAAACTCTAATTTTTTATTATATTGAAATAAATATCCATTAAAAGAATATTTAAAAAATGAATAGTGTTTATTTACCAGTTATTGAAATAGGTTCTGGAAACATGAATTTTAAGGTTAACATTTTAATGACAGATAAAATCAAATATTATATACAAATATTTTGAATGTTTAAAATTATGGTATGACTAAAGAAAGAATGCAAAGTGAAAAGTAGATTTACCATATTCAGCCAGATTAAATTTAACGAAGTTCCTGGGAATATGCTAGTACAGAACATTTTTACAGATGTGTTCTTAAAAAAAAATGTGGAATTAGACCCAGGAATGAAGATCCCAGTAGTTTTTCACTCTTTTCTGAATTCAAATAATGCCACAATGGCAGACAAATACACACCCATGAGCATATCCAAAAGGAAGGATTGAAGGAAAGAGGAGGAAGAAATGGAGAAAGGAAGGAAGGAAGAGGGGAAGAGAGAGGATGGAAGGGATGGAGGAGAAGAAGGAAAAATAAATAATGGAGAGGAGAGGAGAAAAAAGGAGGGGAGAGGAGAGGAGAAGGGATAGGGAAGAGAAAGAGAAAGGGAAGGGAAGAGAGGAAAGAAGAGAAGAGGAGAGAAAAGAAACGAAGAGAGGGGAAGGGAAGGAAAAAAAAGAGGAAAAAAGAGACAAGAGAAGAGATAAGACTGACAGTTCAAATTTTGGTGGTGATATGGATCAATAGAAACTCAAACTCTGTTGGTGACACTGTACAATAGTATAACCCCTTTGGAAAACCTTTAATAGTATCCACAAATGCTGGATGCTTGATAAGTCTATTACCTAGCAATTACATTTTTAGATATTCAGAAACACATGCATGTGTGTATCCAAAGACATGTATAGAAATGCTTATGACAGCAATAATCATAAAAACCTCAAACCGGTAGCCACTTAAATGCTTACCAACAGTAGAATTGATAAATTACGGTATAGTCAAAGAATAGAATATTACACAGAAATGAAAAGAATCAACTACTGCTTAACACGTAGCGATACAAATGCATTTTACAGCATTTGGTTGATTAAAAGTAACCAGAGGTGAGTTCAAACTATATGACTTTATTTGTATATAGAAAGATGGATGATGTGCCTGAGATTCTGATCACAAGGGGAAATGTTATAAAATAGGGTAGAGAGGAGCCATGAATGACCTTTAAACTTTGTTACAAGTTATTTTTCTGTAACCTGGAAGCCAACGAAAGATATTGAATAATTCAAGAAAGGTGGTGGCATGGTTTGATTTGTGTCTTTAAAAGATTATTCTCACTTAGTGAAGAAATGTATTTTAGAAGTAGAGAAAATGGGAGACAAATAGCTGGGCTTCTGTTGCAGTAGGGAAGAAAGTGACAATGCCATT
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GTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCTAGAACCTCTGCAGTGCCAGTATTATCTTTGTATCAAGAGTTCTTGATAATTTCTGCTCTTTGGAGGTAGAAGTGTCACCCATTAATGCCTTGTACGGTTCCCTTGCTTTTCTCTTTTCCCATGTACTCTTTGTAAAATAAACAAGTGCTCCCTATCTGTAGAGCCTCAGGAACCTTCTTACACACCTGGACAAAAAAATGAAATAAGTGAAATTAATCAGGAAGTTGAGCTGAACATTCTTTATTAGGCAGAAGCCATACCCTTGAAGTAGGCATTGTGTTCCCAAGTTCAGAAAATAGAATCTAGGGAAATAGGGTCTTCTTATGGTTATCAGGAAACAGTCCAGGATCTCAATGGTACTTGTGAGCCAGGGCATTAGCCACACCAGCCACCACCTTCTGATAGGCAGCCTGCATTTGTGGGGTGAATTCCTTGCCAAAGTTGCGGGCCAGCACACACACCAGCACATTGCCCAAGAGCTGCGGAGAAGAGGTAGGCAGATACATGCATATGGTTAACAGAGAAATAAAGACTGGCTTCTGAGAAACTGAGCCAACACCCATTTTTTTCTGCCCAAATCTTAGACAAAACTGATCCCCAGGTTATTCCCATCAGCATAAATAAGTACATATATGAATGCATACATATAACATATATCTATACACACACATCCTCTATGTACTTAACTAGCATGTAGTCTATATATGTACATATATGCTATATATGCTGTATAATACTATATACAAATTAATTCCAAATTAGTTTTAATTTTGTATGTGTATATAGCATATACAAATTAATTACTATAAACAGATTAATAGATACAAATTAATTGATTAATCAGTGTGATGATGGGCTGTCTCCTAGCAACGACTTCTGCCCCACCTCCAGTGTAACTGCCTAGTCTTTCATAATCAAATATTCACTTTCCTTTCCATTCCATTTACTACAGAATTTATAAAATTCCAATTATTCCTTATTGTAAAATGATTTATAGCCTCTAAAACAGTATTCTATGCCTCTCATCTTTGAGTTGGAGCCTCTCCCATACCCATGTGGAGAGACAAAAGGATTATTCTAAGTGCAGAATTAGCAGGTGAGAGCTGGTATGCATAATTTGAGTTGTTGTTAGAGAAGGAAAAATGAAGGGAGGGGGTTGGGAGAGAAAGACAGGATATTAAATAATTTAAAATAGCAAGATTGTGAGGAAGGAAAAAATGCAGAATATTTAAATAAAAAATTAACAAAATTTTAGAAGCATTAAATGATAAAATATAGTAAAATGACAAAAATGTGGGAGAAGAGCAGGTAGGTAAAAGAACCAAAATGTAAGATTAGAAAGTAAAAAGAGAAAAGTGAAGCATCTCCTGGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGCTGAGAAAAAGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCTAGCACCTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGAGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGTAATCTGAGGGTAGGAAAACAGCCCAAGGGACAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTACACATGCCCAGTTTCCATTTGCCTCCTTGAGCCTCTCTTATAACCTTGATACCAACGTGCCCAGGGCCTCACCACCAACTGCATCCACGTTCACTTTGCCCCACAGGGCATTGACAGCAGTCTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACTGTTATGTCAGAAGAAAGTGTAAGCAACAGTCGACTCTGCCCTGCCTTTTATGCTGGTCCTGTCCTCCCTGCTCCAGTGAGCAGGTTGGTTTAAGATAAGCAGGGTTTCATTAGTTTGTGAGAATGAAAAATGAACCTTCATTCCACTATTCCCTTAACTTGCCCTGAGATTGGCTGTTCTGTCATGTGTGTCTTGACTCAGAAACCCTGTTCTCCTCTACATATCTCCCCACCGCATCTCTTTCAGCAGTTGTTTCTAAAAATATCCTCCTAGTTTCATTTTTGCAGAAGTGTTTTAGGCTAATATAGTGGAATGTATCTTAGAGTTTAACTTATTTGTTTCTGTCACTTTATACTAAGAAAACTTATCTAAAAGCAGATGTTTTAACAAGTTGACTCAATATAAAGTTCTTCTTTGCCTCTAGAGATTTTTGTCTCCAAGGGAATTTTGAGAGGTTGGAATGGACAAATCTATTGCTGCAGTTTAAACTTGCTTGCTTCCTCCTTCTTTTGGTAAATTCTTCCTATAATAAAACTCTAATTTTTTATTATATTGAAATAAATATCCATTAAAAGAATATTTAAAAAATGAATAGTGTTTATTTACCAGTTATTGAAATAGGTTCTGGAAACATGAATTTTAAGGTTAACATTTTAATGACAGATAAAATCAAATATTATATACAAATATTTTGAATGTTTAAAATTATGGTATGACTAAAGAAAGAATGCAAAGTGAAAAGTAGATTTACCATATTCAGCCAGATTAAATTTAACGAAGTTCCTGGGAATATGCTAGTACAGAACATTTTTACAGATGTGTTCTTAAAAAAAAATGTGGAATTAGACCCAGGAATGAAGATCCCAGTAGTTTTTCACTCTTTTCTGAATTCAAATAATGCCACAATGGCAGACAAATACACACCCATGAGCATATCCAAAAGGAAGGATTGAAGGAAAGAGGAGGAAGAAATGGAGAAAGGAAGGAAGGAAGAGGGGAAGAGAGAGGATGGAAGGGATGGAGGAGAAGAAGGAAAAATAAATAATGGAGAGGAGAGGAGAAAAAAGGAGGGGAGAGGAGAGGAGAAGGGATAGGGAAGAGAAAGAGAAAGGGAAGGGAAGAGAGGAAAGAAGAGAAGAGGAGAGAAAAGAAACGAAGAGAGGGGAAGGGAAGGAAAAAAAAGAGGAAAAAAGAGACAAGAGAAGAGATAAGACTGACAGTTCAAATTTTGGTGGTGATATGGATCAATAGAAACTCAAACTCTGTTGGTGACACTGTACAATAGTATAACCCCTTTGGAAAACCTTTAATAGTATCCACAAATGCTGGATGCTTGATAAGTCTATTACCTAGCAATTACATTTTTAGATATTCAGAAACACATGCATGTGTGTATCCAAAGACATGTATAGAAATGCTTATGACAGCAATAATCATAAAAACCTCAAACCGGTAGCCACTTAAATGCTTACCAACAGTAGAATTGATAAATTACGGTATAGTCAAAGAATAGAATATTACACAGAAATGAAAAGAATCAACTACTGCTTAACACGTAGCGATACAAATGCATTTTACAGCATTTGGTTGATTAAAAGTAACCAGAGGTGAGTTCAAACTATATGACTTTATTTGTATATAGAAAGATGGATGATGTGCCTGAGATTCTGATCACAAGGGGAAATGTTATAAAATAGGGTAGAGAGGAGCCATGAATGACCTTTAAACTTTGTTACAAGTTATTTTTCTGTAACCTGGAAGCCAACGAAAGATATTGAATAATTCAAGAAAGGTGGTGGCATGGTTTGATTTGTGTCTTTAAAAGATTATTCTCACTTAGTGAAGAAATGTATTTTAGAAGTAGAGAAAATGGGAGACAAATAGCTGGGCTTCTGTTGCAGTAGGGAAGAAAGTGACAATGCCATT
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Task1_train_15220
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A variant was discovered on Chromosome 11, affecting HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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CACATTAAACTAAACTCTTGCTTATTAACGTGCATTAACTTTCAATTATATAAGAACTCCAGTGAATCTGCCTTCTCAATTAATGTTATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTG
|
CACATTAAACTAAACTCTTGCTTATTAACGTGCATTAACTTTCAATTATATAAGAACTCCAGTGAATCTGCCTTCTCAATTAATGTTATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTACAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTG
|
Task1_train_15221
|
A variant on Chromosome 11 in gene HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Cyanosis, transient neonatal
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TCAATTAATGTTATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCT
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TCAATTAATGTTATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCATCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCT
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Task1_train_15222
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Here’s a variant in HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cyanosis, transient neonatal
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TATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCTGAGAGTCTGGT
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TATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCAAGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCTGAGAGTCTGGT
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Task1_train_15223
|
A mutation on Chromosome 11 affecting HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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ATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCTGAGAGTCTGGTT
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ATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATATGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCTGAGAGTCTGGTT
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Task1_train_15224
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A variant has been detected on Chromosome 11 in HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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GATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCTGAGAGTCTGGTTGGGTTCCATTTGTAGAGCCTGACCTTTAAGAATGTGTCAGAGACTGGTGTCTAAGCCCGCTAAGG
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GATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGGACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCTGAGAGTCTGGTTGGGTTCCATTTGTAGAGCCTGACCTTTAAGAATGTGTCAGAGACTGGTGTCTAAGCCCGCTAAGG
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Task1_train_15225
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A variant was discovered on Chromosome 11, affecting HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cyanosis, transient neonatal
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TGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCAGGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCTGAGAGTCTGGTTGGGTTCCATTTGTAGAGCCTGACCTTTAAGAATGTGTCAGAGACTGGTGTCTAAGCCCGCTAAGGCCTAAACAAGTGAATCTTTTGAATCTCTCTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACTCCTGCCTTCCAGGTTCAAGCAATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATT
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TGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGGAGTCCTGTCCTATAGAGGTCTTTCTTCCAACCAGATTTCTCCTGCACCTTTTACTCCCACTTGCAGAACTCCCATGTACAAGTTTCTTTATTGCCTAGTTCTTTTATTTGCTCATCAAAACCCACATCTAACGTAAACAAAAAAGTGTGGAGTGTGCACATGACACAAACACACATAGCCATGTATAAATACACATAAACACATCCCTCAACATAAAACCCTTTGTGGCTCATATATTTAAAAAGACATAAAAAAAGAACTGAAGACAACCATGTGTGATCTCTTAGCAGAATAGATTTATTATTTGATTGCTTGCAGAATAAAGCCTATCCTTGAAAGCTCTGCATCATGGGCAGTGAGCTCAGTGGTATCTGGAGGACAGGGCACTGGCCACTCCAGTCACCATCTTCTGCCAGGAAGCCTGCACCTCAGGGGTGAATTCTTTGCCGAAATGGATTGCCAAAACGGTCACCAGCACATTTCCCAGGAGCTGTTGAGATGAAAGGAGACAATAAAGATGAACCCATAGTGAGCTGAGAGCTCCAGCCTGGCCTCCAGATAACTACACACCAAGCTTCCACCCAGAATCAAGCCTATGTTAACTTCCCTCAAAGCCTGAGATTTTGCTTTCCCATTAAATGCAGGTAGTTGTTCTTCTTGCAGCACTAGTCACTGGCCATAATTTAAATCTTGTTATCTTCTTGCCACCATGAACCCTGTATGCTGTAGGCTGAAAACGTTAAAAGAAACACACGCTCTCACACACACACAAACACACGCGCGCACACACACACACACACACACAGAGCTGACTTTCAAAATCTACTCCAGCCCAAATGTTTCAATTGTTCCTCACCCCTGGACATACTTTGCCCCCATCTGGAATTAAAGGATATAAGTTTGTAATGAAGCATTAGCAGCATTTTATATGTGTCCAGCTGATATAGGAATAGCCTTAGCAATGTATGTTTGGCCACCAAAGTTCCCCACTTTGACTGAGCCAATATATGCCTTCTGCCTGCATCTTTTTAATGACCATACTTGTCCTGCCTCCAGATAGATGTTTTAAAACGAATAACAAAAATAGGGGAAAGGTGAAAGTTCTTTCTACCGAAATCTAATAAAGAAAAGTCATTTTCCTCATTTCCACCTCTCTTTTCTCAAAGTCAAAGTTGTCCATCTAGATTTTCAGAGGCACTCCTTAGGCCCTAAAACATTGCCACTGGGTCTCAGCCCAGTTAGTCCTCTGCAGTTTCTTCACTCCCAACCCCAGTATCTTCAAACAGCTCACACCCTGCTGTGCTCAGATCAATACTCAGTTGTCTAAGTTGCCTCGAGACTAAAGGCAACAGTGCTGAAACATCTCCTGGACTCACCTTGAAGTTCTCAGGATCCACATGCAGCTTGTCACAGTGCAGTTCACTCAGCTGGGCAAAGGTGCCCTTGAGATCATCCAGGTGCTTTATGGCATCTCCCAAGGAAGTCAGCACCTTCTTGCCATGTGCCTTGACTTTGGGGTTGCCCATGATGGCAGAGGCAGAGGACAGGTTGCCAAAGCTGTCAAAGAACCTCTGGGTCCATGGGTAGACAACCAGGAGCCTGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGAGAAGCGACCTGGACTTTTGCCAGGCACAGGGTCCTTCCTTCCCTCCCTTGTCCTGGTCACCAGAGCCTACCTTCCCATGGTTTCTCCTCCAGCATCTTCCACATTCACCTTGCCCCACAGGCTTGTGATAGTAGCCTTGTCCTCCTCTGTGAAATGACCCATGGCGTCTGGACTAGGAGCTTATTGATAACCTCAGACGTTCCAGAAGCGAGTGTGTGGAACTGCTGAAGGGTGCTTCCTTTTATTCTTCATCCCTAGCCAGCCGCCGGCCCCTGGCCTCACTGGATACTCTAAGACTATTGGTCAAGTTTGCCTTGTCAAGGCTATTGGTCAAGGCAAGGCTGGCCAACCCATGGGTGGAGTTTAGCCAGGGACCGTTTCAGACAGATATTTGCATTGAGATAGTGTGGGGAAGGGGCCCCCAAGAGGATACTGCTGCTTAATTTTTTTTATAGCCTTTGCCTTGTTCCGATTCAGTCATTCCAATTTTTCTCTAATTTATTCTTCCCTTTAGCTAGTTTTCTTCTCCCACCATAGAAGATACCAGGACTTCTTTTGTCAGCCGTTTTTCACCTTCTTGTCTGTAGCTCCAGTGAGGCCTGTAGTTTAAAGTTAAAGCATGTACCAATTTTTGAAAAGTTCAGGGATTGTGAAATGTGTTTTAGGCATAGGTCCAGGATTTTTGATGGGACACGTCTTAGTCTCATTTAGTAAGCATTGGTTTCCAAATAAGAAGTGCTATACTTATCTTTGAATATACTCTCTGTGGTTTTAGGCCATTATCTCTTAAGTTCTCATTAGTGTAGTGAAAAATCCTATAAAGCAACAGTTTCAGTGCAGGAATAGATTAATGTTATGTAATATAATATAAGACTGAATCCTTACTTCAATATCTACTTATCCGTACCTATTTGAAATAAATCACGCCTGTTTCATCTCAGCAAAAGTATTTTTTTTATATTCAGGTATGTATGTAGGCACCCGATGATGTGTATTTATCACTGGATAAGTGTATGTGCTGGCTGATGACCCAGGGTTTTGGTGTAGCTCTTCTATGCTCGGTAAAGATGATGGTAGAATGCTCTTTACCAGATACTATGGATTAGAATTAATTATCTTGTATAAATGCTAGGTTCACTTCTTAGGGAATCTTATTCTAAGACATAAGACATGTATTTGCATGGAAAACAACTCTTAAGAGGCAGGGACTGTTTTATTGACTAATAGTCCACACACTGTGACAGCTGGGATGTCACTGTAGTTTAGACATCTTTATCTGTAACTCAGTGCTGTTTCTGACATATTGGCCACTTAACATGGCAGGAAGTATTCATGCTGTTTTTTTCTTTATTTTTTCTTTGGGATTTTTATTTTTTGGTAGGTTTGGTTTTGCTTTTGTTTTTTCTCTGAACTCGATCCATGACCTTGGTAGATTATGACGTCAGAAACTCTGGAAATCTGGCTTATTGGAGGAGAGCTCTACCTTCCCCTAACCTATCAGGTTGATAGGAATTATAATAATATTGGTGGAATCCTTTCAGACTTCATAATCCTGTGTAAGGCTTATATCTGCTCAAAGTGTTAGGCGGCTAAAAGACCAGAAAGATACATGTTGACCTGCGCAACAAAGCTGCACATATTGCACTTGTTCTTTGGAAGTTAAAATAAAAGTTGAATAAGAAAGGAAAGAAAAAGATTTGTCAACTTATCAGTATCTTCCAGTTACTCACATAATAATAAGTGACTTCTCTCAATCTAAGGATGGGTGAGAAAGATTTTTATTGGTATGCTGGTACAGATTATAGAGACTGAGGTGAACCCAAATTAGGGTCTCTTTAAGATAGGGGATCTGTGAGATGGGTGTGTATAGATCTTTGGCCATATCTGAGAGTCTGGTTGGGTTCCATTTGTAGAGCCTGACCTTTAAGAATGTGTCAGAGACTGGTGTCTAAGCCCGCTAAGGCCTAAACAAGTGAATCTTTTGAATCTCTCTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACTCCTGCCTTCCAGGTTCAAGCAATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATT
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Task1_train_15226
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Assess the clinical impact of this variant on gene SMPD1 (sphingomyelin phosphodiesterase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Niemann-Pick disease, type A
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCTGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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Task1_train_15227
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This variant affects gene SMPD1 (sphingomyelin phosphodiesterase 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Niemann-Pick disease, type B
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCTGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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Task1_train_15228
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This variant lies on Chromosome 11 and affects the gene SMPD1 (sphingomyelin phosphodiesterase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Sphingomyelin/cholesterol lipidosis
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCTGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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Task1_train_15229
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This alteration in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Niemann-Pick disease, type B
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCTGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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Task1_train_15230
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Assess the clinical impact of this variant on gene SMPD1 (sphingomyelin phosphodiesterase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Niemann-Pick disease, type A
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCTGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTG
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Task1_train_15231
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Chromosome 11 houses a mutation in gene SMPD1 (sphingomyelin phosphodiesterase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Niemann-Pick disease, type A
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CAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAG
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CAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCGGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAG
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Task1_train_15232
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This variant lies on Chromosome 11 and affects the gene SMPD1 (sphingomyelin phosphodiesterase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Acid sphingomyelinase deficiency
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CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTC
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CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTATGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTC
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Task1_train_15233
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A change on Chromosome 11 affects gene SMPD1 (sphingomyelin phosphodiesterase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Niemann-Pick disease, type B
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CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTC
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CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTCTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTC
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Task1_train_15234
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An alteration has been detected in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Sphingomyelin/cholesterol lipidosis
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CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTC
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CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTCTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTC
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Task1_train_15235
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This sequence variant lies in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Niemann-Pick disease, type B
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TGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTA
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TGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCCAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTA
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Task1_train_15236
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The gene SMPD1 (sphingomyelin phosphodiesterase 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Niemann-Pick disease, type A
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TGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTA
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TGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCCAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTA
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Task1_train_15237
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An alteration has been detected in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Sphingomyelin/cholesterol lipidosis
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ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTT
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ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGAACTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTT
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Task1_train_15238
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This sequence change occurs on Chromosome 11, altering SMPD1 (sphingomyelin phosphodiesterase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Niemann-Pick disease, type A
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ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTT
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ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGAACTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTT
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Task1_train_15239
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With a mutation on Chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Niemann-Pick disease, type B
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ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTT
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ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGAACTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTT
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Task1_train_15240
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Located on Chromosome 11, this mutation impacts SMPD1 (sphingomyelin phosphodiesterase 1). 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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ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTT
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ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGAACTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTT
|
Task1_train_15241
|
A change on Chromosome 11 affects gene SMPD1 (sphingomyelin phosphodiesterase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Niemann-Pick disease, type B
|
ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTG
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ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGCCATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTG
|
Task1_train_15242
|
A change on Chromosome 11 affects gene SMPD1 (sphingomyelin phosphodiesterase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Niemann-Pick disease, type A
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ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTG
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ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGCCATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTG
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Task1_train_15243
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Consider a variant on Chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Niemann-Pick disease, type A
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ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTG
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ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGCCATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTG
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Task1_train_15244
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Located on Chromosome 11, this mutation impacts SMPD1 (sphingomyelin phosphodiesterase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Niemann-Pick disease, type B
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GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTC
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GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCACACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTC
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Task1_train_15245
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Here is a mutation in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Niemann-Pick disease, type A
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GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTC
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GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCACACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTC
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Task1_train_15246
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An alteration has been detected in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Niemann-Pick disease, type B
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GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTC
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GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCACACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTC
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Task1_train_15247
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Located on Chromosome 11, this mutation impacts SMPD1 (sphingomyelin phosphodiesterase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Niemann-Pick disease, type A
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACAAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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Task1_train_15248
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Here is a mutation in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Niemann-Pick disease, type A
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACAAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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Task1_train_15249
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A variant found in Chromosome 11 affects SMPD1 (sphingomyelin phosphodiesterase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Niemann-Pick disease, type B
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACAAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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Task1_train_15250
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A mutation in SMPD1 (sphingomyelin phosphodiesterase 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not specified
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACAAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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Task1_train_15251
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A variant was discovered in gene SMPD1 (sphingomyelin phosphodiesterase 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Sphingomyelin/cholesterol lipidosis
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACAAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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Task1_train_15252
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Chromosome 11 houses a mutation in gene SMPD1 (sphingomyelin phosphodiesterase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Inborn genetic diseases
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACAAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCT
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Task1_train_15253
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This genomic variant is located on Chromosome 11, within the SMPD1 (sphingomyelin phosphodiesterase 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Niemann-Pick disease, type A
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AATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCT
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AATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTATGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCT
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Task1_train_15254
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With a mutation on Chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Niemann-Pick disease, type B
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TTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCT
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TTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTAGGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCT
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Task1_train_15255
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Assess the clinical impact of this variant on gene SMPD1 (sphingomyelin phosphodiesterase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Niemann-Pick disease, type A
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TTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCT
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TTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTAGGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCT
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Task1_train_15256
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The variant affects gene SMPD1 (sphingomyelin phosphodiesterase 1), 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; Niemann-Pick disease, type A
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CTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACA
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CTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGACCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACA
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Task1_train_15257
|
A variant has been detected on Chromosome 11 in SMPD1 (sphingomyelin phosphodiesterase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Niemann-Pick disease, type B
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CTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACA
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CTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGACCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACA
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Task1_train_15258
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Gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Niemann-Pick disease, type A
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ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTT
|
ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCGCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTT
|
Task1_train_15259
|
This alteration in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Niemann-Pick disease, type B
|
ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTT
|
ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCGCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTT
|
Task1_train_15260
|
Gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Niemann-Pick disease, type A
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ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTT
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ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCGCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTT
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Task1_train_15261
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This mutation is located in gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Niemann-Pick disease, type B
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ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTT
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ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAGATCAGAGGAAGAGGAAGGGGCGGAGCTGCTTTGCGGCCGGCCGCGGAGCAGTCAGCCGACTACAGAGAAGGGTAATCGGGTGTCCCCGGCGCCGCCCGGGGCCCTGAGGGCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCCATCAACCTCGGGCTGAAGGTGAGCACTGAAGGGGCTGCAGTGGAGGAGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTGCGCTGGGCTCAGAATGCATCCCTGATGGAGAGGGTGGCATCTACAATCCATCACTGAGTTTGCTCCCCTTTGGGGACACCCATGGCTACATGCCACCATCACCCCATTGTGACCTTTGTGAAGTAAGAAAATAATGCAGACAGTGCCTGAGGAAGTCAGCTTGCCAAGCAAAGGCCTCATGCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCGCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTT
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Task1_train_15262
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This is a variant in SMPD1 (sphingomyelin phosphodiesterase 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Niemann-Pick disease, type B
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AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACAC
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AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCTCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACAC
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Task1_train_15263
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Consider this mutation in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Niemann-Pick disease, type A
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AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACAC
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AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCTCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACAC
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Task1_train_15264
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This genomic variant is located on Chromosome 11, within the SMPD1 (sphingomyelin phosphodiesterase 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Niemann-Pick disease, type A
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AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACAC
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AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCTCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACAC
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Task1_train_15265
|
An alteration has been detected in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Niemann-Pick disease, type A
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TGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGG
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TGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCCCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGG
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Task1_train_15266
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This is a variant in SMPD1 (sphingomyelin phosphodiesterase 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Niemann-Pick disease, type B
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TGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGG
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TGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCCCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGG
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Task1_train_15267
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Consider this mutation in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Sphingomyelin/cholesterol lipidosis
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GCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCT
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GCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATAAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCT
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Task1_train_15268
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Given this variant in gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Niemann-Pick disease, type A
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GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTC
|
GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGCACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTC
|
Task1_train_15269
|
A sequence alteration has been identified in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it disease-inducing or harmless?
|
Pathogenic; Niemann-Pick disease, type B
|
GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTC
|
GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGCACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTC
|
Task1_train_15270
|
This mutation occurs in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Niemann-Pick disease, type A
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GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTC
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GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGCACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTC
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Task1_train_15271
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The gene SMPD1 (sphingomyelin phosphodiesterase 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Sphingomyelin/cholesterol lipidosis
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CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGT
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CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCGGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGT
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Task1_train_15272
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A variant on Chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Niemann-Pick disease, type A
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CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGT
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CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCGGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGT
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Task1_train_15273
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This variant impacts the gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Niemann-Pick disease, type A
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CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGT
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CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCGGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGT
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Task1_train_15274
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The gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Niemann-Pick disease, type B
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CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGT
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CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCGGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGT
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Task1_train_15275
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Given a variant located on Chromosome 11 and affecting SMPD1 (sphingomyelin phosphodiesterase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Sphingomyelin/cholesterol lipidosis
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGTATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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Task1_train_15276
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This alteration in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Niemann-Pick disease, type A
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGTATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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Task1_train_15277
|
Given this variant in gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Niemann-Pick disease, type B
|
CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGTATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
|
Task1_train_15278
|
Given this variant in gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Niemann-Pick disease, type A
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGTATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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Task1_train_15279
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A mutation found in SMPD1 (sphingomyelin phosphodiesterase 1) 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; Niemann-Pick disease, type B
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGTATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCT
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Task1_train_15280
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The variant affects gene SMPD1 (sphingomyelin phosphodiesterase 1), 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; Sphingomyelin/cholesterol lipidosis
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TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTG
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TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCGTATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTG
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Task1_train_15281
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A mutation found in SMPD1 (sphingomyelin phosphodiesterase 1) 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; Niemann-Pick disease, type B
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TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTG
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TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCGTATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTG
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Task1_train_15282
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Mutation context: Chromosome 11, Gene SMPD1 (sphingomyelin phosphodiesterase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Niemann-Pick disease, type A
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TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTG
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TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCGTATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTG
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Task1_train_15283
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The gene SMPD1 (sphingomyelin phosphodiesterase 1) 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; Niemann-Pick disease, type B
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AGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAG
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AGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGATGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAG
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Task1_train_15284
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Here’s a variant in SMPD1 (sphingomyelin phosphodiesterase 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Niemann-Pick disease, type B
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CCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCC
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CCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAAATGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCC
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Task1_train_15285
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Here is a variant affecting SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Niemann-Pick disease, type A
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CCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCC
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CCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAAATGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCC
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Task1_train_15286
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A variant has been detected on Chromosome 11 in SMPD1 (sphingomyelin phosphodiesterase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Niemann-Pick disease, type A
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CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTG
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CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTCTGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTG
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Task1_train_15287
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Here’s a variant in SMPD1 (sphingomyelin phosphodiesterase 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Niemann-Pick disease, type B
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CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTG
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CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTCTGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTG
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Task1_train_15288
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This gene mutation involves SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Niemann-Pick disease, type A
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CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTG
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CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTCTGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTG
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Task1_train_15289
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Chromosome 11 houses a mutation in gene SMPD1 (sphingomyelin phosphodiesterase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Niemann-Pick disease, type B
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TGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTC
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TGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGTACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTC
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Task1_train_15290
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This mutation occurs in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Niemann-Pick disease, type A
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TGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTC
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TGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGTACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTC
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Task1_train_15291
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This sequence change occurs on Chromosome 11, altering SMPD1 (sphingomyelin phosphodiesterase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Niemann-Pick disease, type A
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TTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGA
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TTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGAACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGA
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Task1_train_15292
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A variant was discovered in gene SMPD1 (sphingomyelin phosphodiesterase 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Niemann-Pick disease, type B
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TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGT
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TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACAGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGT
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Task1_train_15293
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Assess the clinical impact of this variant on gene SMPD1 (sphingomyelin phosphodiesterase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Niemann-Pick disease, type A
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TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGT
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TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACAGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGT
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Task1_train_15294
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A genomic change on Chromosome 11 affects SMPD1 (sphingomyelin phosphodiesterase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Niemann-Pick disease, type A
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TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGT
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TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACAGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGT
|
Task1_train_15295
|
A genetic alteration is present in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Niemann-Pick disease, type A
|
TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGTCCAAGTATCCCTTCCCTGGGGCTCTCCTCCCCTGGCTTCAGTAACTGGACATTTTCCTACTTTTTAAAATCTTGG
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TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCCGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGTCCAAGTATCCCTTCCCTGGGGCTCTCCTCCCCTGGCTTCAGTAACTGGACATTTTCCTACTTTTTAAAATCTTGG
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Task1_train_15296
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This mutation occurs in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Niemann-Pick disease, type B
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TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGTCCAAGTATCCCTTCCCTGGGGCTCTCCTCCCCTGGCTTCAGTAACTGGACATTTTCCTACTTTTTAAAATCTTGG
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TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCCGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGTCCAAGTATCCCTTCCCTGGGGCTCTCCTCCCCTGGCTTCAGTAACTGGACATTTTCCTACTTTTTAAAATCTTGG
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Task1_train_15297
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A change on Chromosome 11 affects gene SMPD1 (sphingomyelin phosphodiesterase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not specified
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TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGTCCAAGTATCCCTTCCCTGGGGCTCTCCTCCCCTGGCTTCAGTAACTGGACATTTTCCTACTTTTTAAAATCTTGG
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TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCCGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGTCCAAGTATCCCTTCCCTGGGGCTCTCCTCCCCTGGCTTCAGTAACTGGACATTTTCCTACTTTTTAAAATCTTGG
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Task1_train_15298
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A variant has been detected on Chromosome 11 in SMPD1 (sphingomyelin phosphodiesterase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Niemann-Pick disease, type A
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TTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGTCCAAGTATCCCTTCCCTGGGGCTCTCCTCCCCTGGCTTCAGTAACTGGACATTTTCCTACTTTTTAAAATCTTGGATC
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TTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTTTCTACTCTTATCTCCAGCCACCCTCCTTCAAAGGTCTGGCAGCATAACCTCTCTATGCCCCAGCTGTGTCTTTGCTCATGTTGGCCCTCTGGAAATGATTTCCCCCTTTTTTTTAAGTGCTCCAGTTTTTCCCACCTTATCCATCCCATGTCATCTTCCCTCTGTGTGGTCCTTGCTTCCCATTCTAGCTAACTCTTATCCCTCCCCCATACTCCTGGAGCCCTCTGCCCTCAGAGTCTTTTGTGTCACACAGACCCAATAATTAGAACTGTTTGGTCTCTGGCTAGACTGTGAGCTCCTTGCAGGTGGGGAAGATGTCATGTATGCTTTTACCCTCCACCCAAATGCCCAGCACAGGAGGACCAGGATTGGAACAAGTGTTGACCTCTCATGTTTACTTTGTTTCAGAATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGATCCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGACAAAGTGAGGGCCAGTAGTGGGAACACGGTGGTGCTGGGGGACAAGCAGGCTCCTGTTGAGCTGGAGCACCTCTGGGCACAGAAGTTTTATTTTCCTGGCATTCCCAACAAGTGTTCCCTGGGGATTCAGCTCATGGTCACTGTTGAAAGCCTTCATTCAGTCCCCCTTTCTCTAGCCAGGGCTGCCTGGACCCCTGGATGCCCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGGGTGGGAATAGGGACAGGGTGAGTGTCTGAAGGCTGAAAATTCCCTTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTCCTCACTAGAACAGGTTGGAGAAAGAGGGCATCCTATCTCCCCAGATGTCTTCCTACCCCTCCCTAGAATCTTCTGAATGTAGTACCTTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTGGTGAGTGAGGCAGAAGGGAGCCTCCCTTATCCTGGAGTTGGTGGGATAGGGGAAGGAGGTTGGAGCCAGAGCCTGCAAAGCATGGGCAGGATGTGTGGCCCCTCCCTGGAGTTACCCTTGCTCCTTGCCCCTCCAGTCAGCCCCACATCCTTGCAGGTTACCGTGTGTACCAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGAATATCGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAGGCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAGGGCCCCAGGGCCCACATTTGGGAAAGTTCTTGATGTAGGAAAGGGTGAAAAAGCCCAAATGCTGCTGTGGTTCAACCAGGCAAGATCATCCGGTGAAAGAACCAGTCCCTGGGCCCCAAGGATGCCGGGGAAACAGGACCTTCTCCTTTCCTGGAGCTGGTTTAGCTGGATATGGGAGGGGGTTTGGCTGCCTGTGCCCAGGAGCTAGACTGCCTTGAGGCTGCTGTCCTTTCACAGCCATGGAGTAGAGGCCTAAGTTGACACTGCCCTGGGCAGACAAGACAGGAGCTGTCGCCCCAGGCCTGTGCTGCCCAGCCAGGAACCCTGTACTGCTGCTGCGACCTGATGCTGCCAGTCTGTTAAAATAAAGATAAGAGACTTGGACTCCAGACCCCTGTGTGACTGTCCCAATTTCTTCTTTCCAGGCAAGCAGGGCAAGGAGATCTTTGGAGCAAGATCATAACTGAGGCACAGGCTAATGGGTTGATGGTGTGGTACAGGCATAAGAAGGCACACAGCAGTGCAGACAGACTTTATTAGTGATATCAATACAGCAGAGGTGCCCATGGAGCAGGGGGAAGGGACCCATGCCTGGACCAGTCCCTTCCTCCTTCTGCCCCTGCTGGGTCCAGGAGGATGAGGCCTGGCCTGGACCAGTTCCTCCTGTTCCACCTGAAACACATGGGGATGGAGAACCAGGGCTGGCCTTGCTTCCTGCTCCTCTTGTTACCACTCCAGTGTTATCACTTCCTTGAAGGGATTAGATCTCTCCCTCCCCAGCTCCTAGGCAGGGAACCGTAGCTACTGGGGAGGGGCATATTTGGGAGGCCTGAGGCCTAGGAATAGCCTCTAGACCCCTCCCTGACCCACACCCTTTAGTTCCCTGGGGCCCAACACAAGCAGGTGGAGGGAAGGTGGGGGCTTCTTCATGGGGTATGGGCCCCCAGCCGTTTGGGCTTCAGGGAGCCCCACAGCGACTGAACACCCCTGCGGACAGTCCACCCTACACGCCGTGCCACAGACTCAGCAGGGGGTGCTGGGAGGCAGGAGGTGGAGGCCTGGGAACGGGCATCCAGACACTTCTGGTAGCGAAGCTGCGGAGGCAAGCAGGGCAGTCACTCCCCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCACAGCCTCTGAGAGGCTGGCAGCATTGGGCTCGCACCAGAACATGTGGCAGCAGAAGGAGGCTGGGCCGGCAGCCATGATGAATGCAAACGTGTGGACATCTCTGCCCACGGCCAGGAAGGAGAGGAAACGCACCCGACACTCTCCCAGCACTGCCTCTGTCTGCATGGAGGGAACTCAGTTAAAAAGGAACACCAACCCCACACTGTGTTCCACATCCATCTTAGCAGCTCTTCCCCTCACCCCCAGTCTCCCCTCTATGGCAAGGCGCAGCCACGACTTCTACCCCAGCTCTTTACCTGCTGGTGCAAGATGGTGAGGGTAGCAGGGGCCACACTGACATGACTTGGGGTCCATTGTTCACGGCTGCTGGAGGACAGGACTGACTCGAGGGCCCCATTAATCACATCTACCCCTAGAACATATGGACACAAGATACCACTGAGGGTAGACAGAGGATACCCCAGCTCTACCCTGGACCTCTAGTTCCACCCAATCAAACCCAGGGCCTTTGCCCCATCCCCACTTTGCCAGCCTACATTTTGGACAACGCTGTCCAAGTATCCCTTCCCTGGGGCTCTCCTCCCCTGGCTTCAGTAACTGGACATTTTCCTACTTTTTAAAATCTTGGATC
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Task1_train_15299
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The gene DNHD1 (dynein heavy chain domain 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Spermatogenic failure 65
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TGTAGAAACAAGGTCTTGCTATGTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGAAATCTTTCCATCTCAGCCTCCAAAAGTGTTGATTACAGGAGTGAGCCACCACCTCCCAGCCTAAAGTTGATTTTTTTTTAAGTGCACATGTGATATAACTGTATTCTCTTTGACTGAAATGATTGCGCTTTCCTGCTAATTGTGATCGATCTGGTTTCTATCCTTCTCAGCTTCCAAATCTTATTATTCATTAACCTTCAGTTAATGATTATTCATTATTATCATTATTAACCTTCGGTTAATGAATAATAAGTCACAGAGGTAGGATCTAGGGAGAAGAGAGAAGAAATTCCTCAATTTTAGGGAGAATGTGGGGGAGGGAGAATAGCTTACTCAAATGTGACCAAGTCCCAACACGTCAGATTCACAAAATTCCTTTAGAACCGTGTGTGGCAGGAATAGAGGGAACAGGTTGATACTCTCATGTGGACTTTTACATGTCCTCATTATTATTCCTCATGTCCCATAGACCCAGAGAAGAGCTGCCAGCCAGTGTTGGAGACTCTGCGCCAGGCCATGGATGGCACTGTGTATGCCCACAGCACCTTGGAACTGCAGACGCTGCAGCCTACAGTCAACTTCCTTGCCACTGTCACAGTGCCAGGATACTGTGAGCGCCCACTGTGTCCACGCCTCTTTCGACTCTTCACAGTCCTGGCCCTGGAAAGCATGACCCAGGCCACCCTGCTGGAAAGACATGTGCCTATCATTCAGGCTTGGCTTGAGCGTTTCCCTTCTGTGGAACGGGAGCGTGCTCTGGCACGAGGTCTGGTTAGGGCCTCAGTAGAGGCCTGGGAGGCTGTGTGCAATTGCTTCATGCCTTCACCCCTCCACCCACACTACCACTTCTCCCTACACTCTGTGAGCCACCTACTGAGCAGCCTGCAGCTGCTGCCCAACAGAACAGGCTCCCGAGGTTTTGTGGACTATCCCAACCACCAGGAGCACTTGCGCCGGGTGTCAGGCCTGCGAGGCACTTGTCTGACCGTTATGATGGCCACACGCAATGTGGTGCGTCTTTGGTTGCATGAGGCACAGAGAACCTTTTGCGACCGGCTGGACAGCCCCAGGGAACGCTCCTACTGTGCCAAGCTGCTCCTAGTAGTAGCTCAAAGTGTCTTCTGCTGTGGGCCAGGGCCCCAGCACCTGGGCAAGGACCATCAGGAGAGTGAGGAGGAGGAGGAGGAGGAGAGGGTGCCCGAAGTAGAATCTGAAGGGGAGTTGGCCCAGTGGGAGGACTTCAGCAACAGCAATAGTGAAACAGAGGAGGAAGAGGAACCTTATGGCCTTCAGGTCGCCAGAGTCTCAAACTCCAGAGATCCAAGTCTAACACCATCCATAGGACCAGTAAGCAGGGGGATGAAGGAAAGCATAAGTCACAAGATAAGGCAAGAGAAAGGCACAAGGGCATCCAACTATAGGCTCCAGGTAAGGAGATCATTCAAGACTTGGTGGCAGAAGAAACCCCAGATGGACCTGATCTCACCCTTGTTGTTACCAGTGTTACTACTACATCCCCAGGAAAAGCCCTCAGACCTGGTCTTCAGTCAGGAGCTGATACTGGGGCCTAACTCTGAGACCCCCAACTTGTACCTGGAACGACAGTGGGAGAAGCTAGAGGAGCAGTTGGCCACCTCAGCTGCTCAACTGAAGTTGAGCCCCCACCTGGCCCGGTGTCATTCCATGGCCCAGCACGTGGCCCGCCTGGTCCGGGTGCTGGCCAGGCCCCGGCAGCATGGCCTGCTGCTCTCGGGGGCTCTGGGTACTGGGCGCCACACTGCCATCACTCTGGCTTCTAGCATTTGTCAGGCCCATTTCTTTCATCTACCATCTGGGTCAGAGGAGGCCATTCTCCAATGTCTACGAGATGCCAGCTGGCATGCTGGCATGTTAAGCCAGCCAGTGGCTCTGTTGGTACCCAGTGGTGTGGATCTCACTACACTTCATCGCCTCCTGGCCCTGGCAACCTCAGGCAGTTTCCCTGGCCAGTACACAGAAGCAGATTTGGACCGCATTGGAGAACACCTCCCCAGGGAGAACCTTGGTGTCAAACAGAACATCAAGAAGGAAATGGTGTTGCAGAGGTGAGGCCAAGAACCCCATATGCGAATCTGCTCTGCTCTTACGCTGTCTTGGCCAAAAGGCCAAAAGGAATTCTGTGGGCTGCCATGAGGGCTGAGAAGATTGGGGCTAAGTGGTCTGGCTGGGACTGGGGCCAGGAGGGGCAAGCAAAGGTAAAGGGGAGGACATTAGCTGAGCCCTGGCCCACAGGTTCCACCAGCAAGTGTGCAGCCACCTTCACCTGTTCTTCCTGATTGGAGATAAACAGGCCCACAAGCAGCTGCCCTCCACCCTTTTCCTGAGGCTCCTTCAACTGGCCACTGCCAGCATTGACCGCTATGAACCCTGGGACCAAGCTGCCCTGGCCAAGGTGGCCCAGCATCACCTGGAGGGTGCTCAGAGTGTGCCCCTTGATGACGGTAAGCCCTTTTTACTTGTCCTTACCACTCATCTCTACCAGGCTCTAATGAGGGTTATTACCTAGGTCAGTCTCTCTCTCTCCCTCTCTAGAGCCTACAGAGCCCCCTTCACATTTCCTACCCTTCTTCCTGAGCTAGGAGAGGATCCCTTTCCTTTCCTGTTTTCCTACAAGCTCACAGAGTGAGGCTAAAGCCATGCCCATTGCAGGCTCCTGGAAGTACCCAGACCTCCAGGCCTCAATTCCCAGTGTGGCCAAAGCCATGGCTCTTATCCACCTTTCGGCCACCCACTACCATGAGCACCTGTGCCCTGCATTGCCACTCGTCACCCCCAAGACCTTCCTAGACTTCCTGGACACTTTCCTGATGCTGCAGCAACAGACAATCCTGAAGATTAAGAACAAGGCCCAGCGGTGAGTGTCCCGTCCCCTGCAGTGTACCTCCTTCTGCTCCTTTGGGTTTCCTCACCAGCACATTGTATCTCCAGGGTCCAGAATGCCTTGGAGAATCTGAGAATGCTGATTAAGGAGCACGGTACCCATGCCAATCTGATCTTTGACTTGGAACAGCAGCTGAAAGACTCCGGCAAGGTAAGGAGATGATTTTGAGGCTTCCATGGTGGTGTCAAAGCAGGAGCCCAAAGGGGACTTGAAAGGAAGCAACCAGAATGAACCTTAATTCTTGTCCCCCTAAGCTTCCCCTTTCCCTAGGAAATCTCTCTGATCTCCGCTGCCTCCTCCTTTACAGCTTAGGTTCAAAAGTTTCCCATGATACAGCTAAGACCAGATTGATTCTTCATAACAGGTGAAACCCAAGCATCTGCTTCTGGCTGCCCCTAGTACCATGATCATGTGAAGTTCAGTATGCTGCCAAGATCTCTGTAGATTCCCATGGGGGTTGGGGCAGGCATTACATCTCAGTCACCACTCACTCACCTCTTAGAGTTATCCTCTTTTTCCATAACACTTTGTCCCCATACCCTTTCTTCCACAAAAGCAACAAACAAAACTGTTGTATACAGTGAGGACATGTAGATGGGTGATGGCAGCAGGGAGAAATTTGTATTATGGCATAGAACCAGAAGTAAATTTATAATGGTATACTAGACAAGAGTGTCCTGAATTGTCTTACTCACCCTCCTCTACCAGGCATTTTCCAGTGACCAACTTTTCCTTTCCTCTCTCGTCTCTCTAACACCTGCTCTACAATGTTTTTGAGCCGTCCCATTTTTCCTTTAGCGCTCCCTTCTAGTTGAAACCTCAAAACCTTTTGCTGTCATACAGAACAATCTTATTCTTTGAATAAACAAACTTCTTATATCTGGCTAAAATTGGTGATGATAGGGCTTATCACACCTTCTAAAGCCAAATACTCCTAGTTAAAGGTGTCTTCCCAAACTAAAGAGCAGTTTTGTTTTTAATAAGAAGAATTCTAAAATAGCACCTTTTTTTCCTACTACACAAGATGTTGATAAATATTCTGGTATAACTTCAGAGCAGTGAACTAGTGCCCATCTCACACTCAGATAATCTTTCTACTAGGGTTTCAGGTCTTAAGC
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TGTAGAAACAAGGTCTTGCTATGTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGAAATCTTTCCATCTCAGCCTCCAAAAGTGTTGATTACAGGAGTGAGCCACCACCTCCCAGCCTAAAGTTGATTTTTTTTTAAGTGCACATGTGATATAACTGTATTCTCTTTGACTGAAATGATTGCGCTTTCCTGCTAATTGTGATCGATCTGGTTTCTATCCTTCTCAGCTTCCAAATCTTATTATTCATTAACCTTCAGTTAATGATTATTCATTATTATCATTATTAACCTTCGGTTAATGAATAATAAGTCACAGAGGTAGGATCTAGGGAGAAGAGAGAAGAAATTCCTCAATTTTAGGGAGAATGTGGGGGAGGGAGAATAGCTTACTCAAATGTGACCAAGTCCCAACACGTCAGATTCACAAAATTCCTTTAGAACCGTGTGTGGCAGGAATAGAGGGAACAGGTTGATACTCTCATGTGGACTTTTACATGTCCTCATTATTATTCCTCATGTCCCATAGACCCAGAGAAGAGCTGCCAGCCAGTGTTGGAGACTCTGCGCCAGGCCATGGATGGCACTGTGTATGCCCACAGCACCTTGGAACTGCAGACGCTGCAGCCTACAGTCAACTTCCTTGCCACTGTCACAGTGCCAGGATACTGTGAGCGCCCACTGTGTCCACGCCTCTTTCGACTCTTCACAGTCCTGGCCCTGGAAAGCATGACCCAGGCCACCCTGCTGGAAAGACATGTGCCTATCATTCAGGCTTGGCTTGAGCGTTTCCCTTCTGTGGAACGGGAGCGTGCTCTGGCACGAGGTCTGGTTAGGGCCTCAGTAGAGGCCTGGGAGGCTGTGTGCAATTGCTTCATGCCTTCACCCCTCCACCCACACTACCACTTCTCCCTACACTCTGTGAGCCACCTACTGAGCAGCCTGCAGCTGCTGCCCAACAGAACAGGCTCCCGAGGTTTTGTGGACTATCCCAACCACCAGGAGCACTTGCGCCGGGTGTCAGGCCTGCGAGGCACTTGTCTGACCGTTATGATGGCCACACGCAATGTGGTGCGTCTTTGGTTGCATGAGGCACAGAGAACCTTTTGCGACCGGCTGGACAGCCCCAGGGAACGCTCCTACTGTGCCAAGCTGCTCCTAGTAGTAGCTCAAAGTGTCTTCTGCTGTGGGCCAGGGCCCCAGCACCTGGGCAAGGACCATCAGGAGAGTGAGGAGGAGGAGGAGGAGGAGAGGGTGCCCGAAGTAGAATCTGAAGGGGAGTTGGCCCAGTGGGAGGACTTCAGCAACAGCAATAGTGAAACAGAGGAGGAAGAGGAACCTTATGGCCTTCAGGTCGCCAGAGTCTCAAACTCCAGAGATCCAAGTCTAACACCATCCATAGGACCAGTAAGCAGGGGGATGAAGGAAAGCATAAGTCACAAGATAAGGCAAGAGAAAGGCACAAGGGCATCCAACTATAGGCTCCAGGTAAGGAGATCATTCAAGACTTGGTGGCAGAAGAAACCCCAGATGGACCTGATCTCACCCTTGTTGTTACCAGTGTTACTACTACATCCCCAGGAAAAGCCCTCAGACCTGGTCTTCAGTCAGGAGCTGATACTGGGGCCTAACTCTGAGACCCCCAACTTGTACCTGGAACGACAGTGGGAGAAGCTAGAGGAGCAGTTGGCCACCTCAGCTGCTCAACTGAAGTTGAGCCCCCACCTGGCCCGGTGTCATTCCATGGCCCAGCACGTGGCCCGCCTGGTCCGGGTGCTGGCCAGGCCCCGGCAGCATGGCCTGCTGCTCTCGGGGGCTCTGGGTACTGGGCGCCACACTGCCATCACTCTGGCTTCTAGCATTTGTCAGGCCCATTTCTTTCATCTACCATCTGGGTCAGAGGAGGCCATTCTCCAATGTCTACGAGATGCCAGCTGGCATGCTGGCATGTTAAGCCAGCCAGTGGCTCTGTTGGTACCCAGTGGTGTGGATCTCACTACACTTCATCGCCTCCTGGCCCTGGCAACCTCAGGCAGTTTCCCTGGCCAGTGCACAGAAGCAGATTTGGACCGCATTGGAGAACACCTCCCCAGGGAGAACCTTGGTGTCAAACAGAACATCAAGAAGGAAATGGTGTTGCAGAGGTGAGGCCAAGAACCCCATATGCGAATCTGCTCTGCTCTTACGCTGTCTTGGCCAAAAGGCCAAAAGGAATTCTGTGGGCTGCCATGAGGGCTGAGAAGATTGGGGCTAAGTGGTCTGGCTGGGACTGGGGCCAGGAGGGGCAAGCAAAGGTAAAGGGGAGGACATTAGCTGAGCCCTGGCCCACAGGTTCCACCAGCAAGTGTGCAGCCACCTTCACCTGTTCTTCCTGATTGGAGATAAACAGGCCCACAAGCAGCTGCCCTCCACCCTTTTCCTGAGGCTCCTTCAACTGGCCACTGCCAGCATTGACCGCTATGAACCCTGGGACCAAGCTGCCCTGGCCAAGGTGGCCCAGCATCACCTGGAGGGTGCTCAGAGTGTGCCCCTTGATGACGGTAAGCCCTTTTTACTTGTCCTTACCACTCATCTCTACCAGGCTCTAATGAGGGTTATTACCTAGGTCAGTCTCTCTCTCTCCCTCTCTAGAGCCTACAGAGCCCCCTTCACATTTCCTACCCTTCTTCCTGAGCTAGGAGAGGATCCCTTTCCTTTCCTGTTTTCCTACAAGCTCACAGAGTGAGGCTAAAGCCATGCCCATTGCAGGCTCCTGGAAGTACCCAGACCTCCAGGCCTCAATTCCCAGTGTGGCCAAAGCCATGGCTCTTATCCACCTTTCGGCCACCCACTACCATGAGCACCTGTGCCCTGCATTGCCACTCGTCACCCCCAAGACCTTCCTAGACTTCCTGGACACTTTCCTGATGCTGCAGCAACAGACAATCCTGAAGATTAAGAACAAGGCCCAGCGGTGAGTGTCCCGTCCCCTGCAGTGTACCTCCTTCTGCTCCTTTGGGTTTCCTCACCAGCACATTGTATCTCCAGGGTCCAGAATGCCTTGGAGAATCTGAGAATGCTGATTAAGGAGCACGGTACCCATGCCAATCTGATCTTTGACTTGGAACAGCAGCTGAAAGACTCCGGCAAGGTAAGGAGATGATTTTGAGGCTTCCATGGTGGTGTCAAAGCAGGAGCCCAAAGGGGACTTGAAAGGAAGCAACCAGAATGAACCTTAATTCTTGTCCCCCTAAGCTTCCCCTTTCCCTAGGAAATCTCTCTGATCTCCGCTGCCTCCTCCTTTACAGCTTAGGTTCAAAAGTTTCCCATGATACAGCTAAGACCAGATTGATTCTTCATAACAGGTGAAACCCAAGCATCTGCTTCTGGCTGCCCCTAGTACCATGATCATGTGAAGTTCAGTATGCTGCCAAGATCTCTGTAGATTCCCATGGGGGTTGGGGCAGGCATTACATCTCAGTCACCACTCACTCACCTCTTAGAGTTATCCTCTTTTTCCATAACACTTTGTCCCCATACCCTTTCTTCCACAAAAGCAACAAACAAAACTGTTGTATACAGTGAGGACATGTAGATGGGTGATGGCAGCAGGGAGAAATTTGTATTATGGCATAGAACCAGAAGTAAATTTATAATGGTATACTAGACAAGAGTGTCCTGAATTGTCTTACTCACCCTCCTCTACCAGGCATTTTCCAGTGACCAACTTTTCCTTTCCTCTCTCGTCTCTCTAACACCTGCTCTACAATGTTTTTGAGCCGTCCCATTTTTCCTTTAGCGCTCCCTTCTAGTTGAAACCTCAAAACCTTTTGCTGTCATACAGAACAATCTTATTCTTTGAATAAACAAACTTCTTATATCTGGCTAAAATTGGTGATGATAGGGCTTATCACACCTTCTAAAGCCAAATACTCCTAGTTAAAGGTGTCTTCCCAAACTAAAGAGCAGTTTTGTTTTTAATAAGAAGAATTCTAAAATAGCACCTTTTTTTCCTACTACACAAGATGTTGATAAATATTCTGGTATAACTTCAGAGCAGTGAACTAGTGCCCATCTCACACTCAGATAATCTTTCTACTAGGGTTTCAGGTCTTAAGC
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Subsets and Splits
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